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Wyświetlanie 1-95 z 95
Tytuł :
Truncating mutations of hSNF5/INI1 in aggressive paediatric cancer.
Autorzy :
Versteege I; Laboratoire de Pathologie Moléculaire des Cancers, Section de Recherche, Institut Curie, Paris, France.
Sévenet N
Lange J
Rousseau-Merck MF
Ambros P
Handgretinger R
Aurias A
Delattre O
Pokaż więcej
Źródło :
Nature [Nature] 1998 Jul 09; Vol. 394 (6689), pp. 203-6.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Mapping*
Chromosomes, Human, Pair 22*
DNA-Binding Proteins/*genetics
Rhabdoid Tumor/*genetics
Transcription Factors/*genetics
Child ; Chromosomal Proteins, Non-Histone ; Chromosome Deletion ; Frameshift Mutation ; Humans ; Infant ; Infant, Newborn ; Mutation ; SMARCB1 Protein ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł :
INI1 mutations in meningiomas at a potential hotspot in exon 9.
Autorzy :
Schmitz U; Department of Neuropathology, Charité, Humboldt University, Berlin, 13353, Germany.
Mueller W
Weber M
Sévenet N
Delattre O
von Deimling A
Pokaż więcej
Źródło :
British journal of cancer [Br J Cancer] 2001 Jan; Vol. 84 (2), pp. 199-201.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA-Binding Proteins/*genetics
Exons/*genetics
Meningeal Neoplasms/*genetics
Meningioma/*genetics
Alleles ; Amino Acid Substitution ; Base Sequence ; Chromosomal Proteins, Non-Histone ; Chromosomes, Human, Pair 22/genetics ; DNA Mutational Analysis ; DNA, Neoplasm/chemistry ; DNA, Neoplasm/genetics ; Gene Frequency ; Humans ; Loss of Heterozygosity ; Meningeal Neoplasms/pathology ; Meningioma/pathology ; Mutation ; Point Mutation ; Polymorphism, Genetic ; Polymorphism, Single-Stranded Conformational ; SMARCB1 Protein ; Transcription Factors
Czasopismo naukowe
Tytuł :
Analysis of the expression of cell cycle regulators in Ewing cell lines: EWS-FLI-1 modulates p57KIP2and c-Myc expression.
Autorzy :
Dauphinot L; INSERM U509, Laboratoire de Pathologie Moléculaire des Cancers, Institut Curie, 26 rue d'Ulm, 75248 Paris Cedex 05, France.
De Oliveira C
Melot T
Sevenet N
Thomas V
Weissman BE
Delattre O
Pokaż więcej
Źródło :
Oncogene [Oncogene] 2001 May 31; Vol. 20 (25), pp. 3258-65.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cell Cycle Proteins/*metabolism
Nuclear Proteins/*metabolism
Oncogene Proteins, Fusion/*metabolism
Proto-Oncogene Proteins c-myc/*metabolism
Sarcoma, Ewing/*etiology
Transcription Factors/*metabolism
Base Sequence ; Cell Cycle ; Cell Transformation, Neoplastic ; Cyclin-Dependent Kinase Inhibitor p57 ; Down-Regulation ; Humans ; Molecular Sequence Data ; Nuclear Proteins/genetics ; Promoter Regions, Genetic ; Proto-Oncogene Protein c-fli-1 ; RNA-Binding Protein EWS ; Tumor Cells, Cultured
Czasopismo naukowe
Tytuł :
Rhabdoid tumor of the kidney is a component of the rhabdoid predisposition syndrome.
Autorzy :
Lee HY; Department of Pathology, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore. />Yoon CS
Sevenet N
Rajalingam V
Delattre O
Walford NQ
Pokaż więcej
Źródło :
Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society [Pediatr Dev Pathol] 2002 Jul-Aug; Vol. 5 (4), pp. 395-9. Date of Electronic Publication: 2002 May 21.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Kidney Neoplasms/*genetics
Kidney Neoplasms/*pathology
Rhabdoid Tumor/*genetics
Rhabdoid Tumor/*pathology
Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/pathology ; Chromosomal Proteins, Non-Histone ; DNA-Binding Proteins/genetics ; Female ; Germ-Line Mutation/genetics ; Humans ; Immunohistochemistry ; Infant ; Kidney Neoplasms/metabolism ; Lung Neoplasms/secondary ; Male ; Pedigree ; Pleural Neoplasms/genetics ; Pleural Neoplasms/secondary ; Polymerase Chain Reaction ; Rhabdoid Tumor/metabolism ; SMARCB1 Protein ; Transcription Factors
Czasopismo naukowe
Tytuł :
Comparative genomic hybridization detects specific cytogenetic abnormalities in pediatric ependymomas and choroid plexus papillomas.
Autorzy :
Grill J; Department of Pediatric Oncology, Institut Gustave Roussy, 39 rue Camille Desmoulins, 94805 Villejuif Cedex, France.
Avet-Loiseau H
Lellouch-Tubiana A
Sévenet N
Terrier-Lacombe MJ
Vénuat AM
Doz F
Sainte-Rose C
Kalifa C
Vassal G
Pokaż więcej
Źródło :
Cancer genetics and cytogenetics [Cancer Genet Cytogenet] 2002 Jul 15; Vol. 136 (2), pp. 121-5.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Aberrations*
Nucleic Acid Hybridization*
Brain Neoplasms/*genetics
Choroid Plexus Neoplasms/*genetics
Ependymoma/*genetics
Papilloma/*genetics
Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 22 ; Humans ; Infant ; Male
Czasopismo naukowe
Tytuł :
Regulation of bone resorption and osteoclast survival by nitric oxide: possible involvement of NMDA-receptor.
Autorzy :
Mentaverri R; Groupe d'Etude des Mécanismes de la Résorption Osseuse, Université de Picardie-Jules Verne, Laboratoire de pharmacie clinique, 1, rue des Louvels, 80037 Amiens, France. />Kamel S
Wattel A
Prouillet C
Sevenet N
Petit JP
Tordjmann T
Brazier M
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Źródło :
Journal of cellular biochemistry [J Cell Biochem] 2003 Apr 15; Vol. 88 (6), pp. 1145-56.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone Resorption*
Nitric Oxide/*physiology
Osteoclasts/*physiology
Receptors, N-Methyl-D-Aspartate/*physiology
Animals ; Apoptosis/drug effects ; Benzoates/pharmacology ; Calcium/metabolism ; Cell Survival ; Cells, Cultured ; Dizocilpine Maleate/pharmacology ; Dose-Response Relationship, Drug ; Imidazoles/pharmacology ; Nitric Oxide/biosynthesis ; Nitric Oxide Synthase/biosynthesis ; Nitric Oxide Synthase Type I ; Osteoclasts/drug effects ; Osteoclasts/metabolism ; Rabbits ; Receptors, N-Methyl-D-Aspartate/drug effects ; Receptors, N-Methyl-D-Aspartate/metabolism
Czasopismo naukowe
Tytuł :
DNA microarrays in clinical practice: past, present, and future.
Autorzy :
Sevenet N; Plateforme de Génomique, Service de Biochimie et de Biologie Moléculaire, Hôpital Lariboisière (AP-HP), 2, rue Ambroise Paré, F-75010 Paris, France. nicolas.sevenet@lrb.ap-hop-paris.fr
Cussenot O
Pokaż więcej
Źródło :
Clinical and experimental medicine [Clin Exp Med] 2003 May; Vol. 3 (1), pp. 1-3.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Oligonucleotide Array Sequence Analysis*
Gene Expression ; Humans ; Prognosis
Czasopismo naukowe
Tytuł :
In vivo antitumor activity of S16020, a topoisomerase II inhibitor, and doxorubicin against human brain tumor xenografts.
Autorzy :
Vassal G; UPRES EA 3535 Pharmacology and New Treatments of Cancers, Institut Gustave-Roussy, Villejuif, France. />Merlin JL
Terrier-Lacombe MJ
Grill J
Parker F
Sainte-Rose C
Aubert G
Morizet J
Sévenet N
Poullain MG
Lucas C
Kalifa C
Pokaż więcej
Źródło :
Cancer chemotherapy and pharmacology [Cancer Chemother Pharmacol] 2003 May; Vol. 51 (5), pp. 385-94. Date of Electronic Publication: 2003 Mar 22.
Typ publikacji :
Journal Article
MeSH Terms :
Topoisomerase II Inhibitors*
Carbazoles/*pharmacology
Cerebellar Neoplasms/*drug therapy
Doxorubicin/*pharmacology
Glioblastoma/*drug therapy
Medulloblastoma/*drug therapy
Multidrug Resistance-Associated Proteins/*biosynthesis
Pyridines/*pharmacology
Animals ; Cerebellar Neoplasms/pathology ; Cerebellar Neoplasms/veterinary ; Drug Therapy, Combination ; Female ; Gene Expression Regulation ; Glioblastoma/pathology ; Glioblastoma/veterinary ; Medulloblastoma/pathology ; Medulloblastoma/veterinary ; Mice ; Mice, Nude ; Multidrug Resistance-Associated Proteins/pharmacology ; Reverse Transcriptase Polymerase Chain Reaction ; Transplantation, Heterologous
Czasopismo naukowe
Tytuł :
Breast cancer cell line MDA-MB 231 exerts a potent and direct anti-apoptotic effect on mature osteoclasts.
Autorzy :
Gallet M; Unité d'Etude des Mécanismes de la Résorption Osseuse, UPRES-EA 2086, Faculté de Pharmacie, 1, rue des Louvels, 80037 Amiens Cedex, France. />Sévenet N
Dupont C
Brazier M
Kamel S
Pokaż więcej
Źródło :
Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2004 Jun 25; Vol. 319 (2), pp. 690-6.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Apoptosis*
Breast Neoplasms/*pathology
Osteoclasts/*cytology
Animals ; Bone Resorption ; Cell Line, Tumor ; Culture Media, Conditioned ; Humans ; Macrophage Colony-Stimulating Factor/physiology ; Rabbits ; Signal Transduction
Czasopismo naukowe
Tytuł :
[Breast carcinoma and genomic technology: contribution of DNA microarrays].
Autorzy :
Sévenet N; Plateforme de génomique, Service de biochimie et biologie moléculaire, Hôpital Lariboisière (AP-HP), 2, rue Ambroise Paré, 75010 Paris.
Cottu PH
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Transliterated Title :
Génomique et cancer du sein: apport des puces à ADN.
Źródło :
Bulletin du cancer [Bull Cancer] 2004 Dec 01; Vol. 91 Suppl 4, pp. S226-31.
Typ publikacji :
English Abstract; Journal Article; Review
MeSH Terms :
Breast Neoplasms/*genetics
Oligonucleotide Array Sequence Analysis/*methods
Female ; Genetic Markers/genetics ; Humans
Czasopismo naukowe
Tytuł :
[Genetic factors and colorectal cancers development: therapeutic impact].
Autorzy :
Olschwang S; Institut Paoli-Calmettes, Centre Régional de Lutte Contre le Cancer, Provence-Alpes-Côte d'Azur, Inserm UMR 599, Marseille, France. />Viret F
Monges G
Seitz J
Sevenet N
Tiret E
Milano G
Birnbaum D
Bertucci F
Pokaż więcej
Transliterated Title :
Identification des facteurs génétiques associés à l'évolution des cancers coliques: impact sur la prise en charge thérapeutique.
Źródło :
Medecine sciences : M/S [Med Sci (Paris)] 2006 Jan; Vol. 22 Spec No 1, pp. 45-9.
Typ publikacji :
English Abstract; Journal Article; Review
MeSH Terms :
Colorectal Neoplasms/*drug therapy
Colorectal Neoplasms/*genetics
Humans
Czasopismo naukowe
Tytuł :
Ability of breast cancer cell lines to stimulate bone resorbing activity of mature osteoclasts correlates with an anti-apoptotic effect mediated by macrophage colony stimulating factor.
Autorzy :
Gallet M; Unité d'Etude des Mécanismes de la Résorption Osseuse (UMRO), UPRES-EA 2086, Faculté de Pharmacie, 1, rue des Louvels, 80037, Amiens Cedex, France. />Mentaverri R
Sévenet N
Brazier M
Kamel S
Pokaż więcej
Źródło :
Apoptosis : an international journal on programmed cell death [Apoptosis] 2006 Nov; Vol. 11 (11), pp. 1909-21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone Resorption/*metabolism
Breast Neoplasms/*metabolism
Macrophage Colony-Stimulating Factor/*metabolism
Osteoclasts/*cytology
Animals ; Apoptosis/drug effects ; Benzamides ; Cell Line, Tumor ; Culture Media, Conditioned ; Humans ; Imatinib Mesylate ; Macrophage Colony-Stimulating Factor/genetics ; Osteoclasts/metabolism ; Piperazines/pharmacology ; Protein Kinase Inhibitors/pharmacology ; Pyrimidines/pharmacology ; RNA, Small Interfering ; Rabbits
Czasopismo naukowe
Tytuł :
Imatinib mesylate (Gleevec) enhances mature osteoclast apoptosis and suppresses osteoclast bone resorbing activity.
Autorzy :
El Hajj Dib I; Laboratoire de Biologie et Pharmacie Clinique, UPRES-EA 2086 and INSERM ERI-12, Faculty of Pharmacie, 1, rue des Louvels, 80037 Amiens Cedex, France.
Gallet M
Mentaverri R
Sévenet N
Brazier M
Kamel S
Pokaż więcej
Źródło :
European journal of pharmacology [Eur J Pharmacol] 2006 Dec 03; Vol. 551 (1-3), pp. 27-33. Date of Electronic Publication: 2006 Sep 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Apoptosis/*drug effects
Bone Density Conservation Agents/*pharmacology
Bone Remodeling/*drug effects
Bone Resorption/*prevention & control
Osteoclasts/*drug effects
Piperazines/*pharmacology
Protein Kinase Inhibitors/*pharmacology
Pyrimidines/*pharmacology
Amino Acid Chloromethyl Ketones/pharmacology ; Animals ; Benzamides ; Caspase Inhibitors ; Cell Survival/drug effects ; Cells, Cultured ; Cysteine Proteinase Inhibitors/pharmacology ; Dose-Response Relationship, Drug ; Imatinib Mesylate ; Interleukin-1alpha/pharmacology ; Macrophage Colony-Stimulating Factor/pharmacology ; Osteoclasts/metabolism ; RANK Ligand/pharmacology ; Rabbits ; Time Factors
Czasopismo naukowe
Tytuł :
Genetic heterogeneity versus molecular analysis of prion susceptibility in neuroblasma N2a sublines.
Autorzy :
Chasseigneaux S; EA 3621, Faculté de Pharmacie, Université Paris 5, 4 avenue de l'Observatoire, 75270 Paris cedex 06, France.
Pastore M
Britton-Davidian J
Manié E
Stern MH
Callebert J
Catalan J
Casanova D
Belondrade M
Provansal M
Zhang Y
Bürkle A
Laplanche JL
Sévenet N
Lehmann S
Pokaż więcej
Źródło :
Archives of virology [Arch Virol] 2008; Vol. 153 (9), pp. 1693-702. Date of Electronic Publication: 2008 Aug 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Disease Susceptibility*
Genetic Heterogeneity*
Neuroblastoma/*genetics
Prions/*metabolism
Animals ; Cell Line, Tumor ; Gene Expression ; Karyotyping ; Mice ; Neuroblastoma/metabolism ; Nucleic Acid Hybridization ; Prions/genetics
Czasopismo naukowe
Tytuł :
Gene profiling in human blood leucocytes during recovery from septic shock.
Autorzy :
Payen D; Lariboisière University Hospital, Assistance Publique - Hôpitaux de Paris, Department of Anesthesiology and Critical Care Medicine, Paris, France. />Lukaszewicz AC
Belikova I
Faivre V
Gelin C
Russwurm S
Launay JM
Sevenet N
Pokaż więcej
Źródło :
Intensive care medicine [Intensive Care Med] 2008 Aug; Vol. 34 (8), pp. 1371-6. Date of Electronic Publication: 2008 Apr 05.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Profiling*
Calgranulin A/*blood
Oligonucleotide Array Sequence Analysis/*methods
Shock, Septic/*genetics
Antigens, Differentiation, B-Lymphocyte/genetics ; Calgranulin A/genetics ; Calgranulin A/physiology ; HLA-DR Antigens/genetics ; HLA-DRB1 Chains ; Histocompatibility Antigens Class II/genetics ; Humans ; Leukocytes ; Middle Aged ; Reverse Transcriptase Polymerase Chain Reaction ; Shock, Septic/mortality ; Survival Analysis
Czasopismo naukowe
Tytuł :
Cutaneous epidermal cysts as a presentation of gorlin syndrome.
Autorzy :
Morice-Picard F
Sévenet N
Bonnet F
Jouary T
Lacombe D
Taieb A
Pokaż więcej
Źródło :
Archives of dermatology [Arch Dermatol] 2009 Nov; Vol. 145 (11), pp. 1341-3.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Disease Susceptibility*
Basal Cell Nevus Syndrome/*diagnosis
Epidermal Cyst/*diagnosis
Skin Neoplasms/*diagnosis
Adult ; Asian Continental Ancestry Group/genetics ; Basal Cell Nevus Syndrome/genetics ; Child, Preschool ; Diagnosis, Differential ; Epidermal Cyst/genetics ; Female ; Humans ; Male ; Mothers ; Pedigree ; Skin Neoplasms/genetics
Raport
Tytuł :
Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2.
Autorzy :
Mulligan AM; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Worts Causeway, Cambridge, CB1 8RN, UK.
Couch FJ
Barrowdale D
Domchek SM
Eccles D
Nevanlinna H
Ramus SJ
Robson M
Sherman M
Spurdle AB
Wappenschmidt B
Lee A
McGuffog L
Healey S
Sinilnikova OM
Janavicius R
Hansen Tv
Nielsen FC
Ejlertsen B
Osorio A
Muñoz-Repeto I
Durán M
Godino J
Pertesi M
Benítez J
Peterlongo P
Manoukian S
Peissel B
Zaffaroni D
Cattaneo E
Bonanni B
Viel A
Pasini B
Papi L
Ottini L
Savarese A
Bernard L
Radice P
Hamann U
Verheus M
Meijers-Heijboer HE
Wijnen J
Gómez García EB
Nelen MR
Kets CM
Seynaeve C
Tilanus-Linthorst MM
van der Luijt RB
van Os T
Rookus M
Frost D
Jones JL
Evans DG
Lalloo F
Eeles R
Izatt L
Adlard J
Davidson R
Cook J
Donaldson A
Dorkins H
Gregory H
Eason J
Houghton C
Barwell J
Side LE
McCann E
Murray A
Peock S
Godwin AK
Schmutzler RK
Rhiem K
Engel C
Meindl A
Ruehl I
Arnold N
Niederacher D
Sutter C
Deissler H
Gadzicki D
Kast K
Preisler-Adams S
Varon-Mateeva R
Schoenbuchner I
Fiebig B
Heinritz W
Schäfer D
Gevensleben H
Caux-Moncoutier V
Fassy-Colcombet M
Cornelis F
Mazoyer S
Léoné M
Boutry-Kryza N
Hardouin A
Berthet P
Muller D
Fricker JP
Mortemousque I
Pujol P
Coupier I
Lebrun M
Kientz C
Longy M
Sevenet N
Stoppa-Lyonnet D
Isaacs C
Caldes T
de la Hoya M
Heikkinen T
Aittomäki K
Blanco I
Lazaro C
Barkardottir RB
Soucy P
Dumont M
Simard J
Montagna M
Tognazzo S
D'Andrea E
Fox S
Yan M
Rebbeck T
Olopade O
Weitzel JN
Lynch HT
Ganz PA
Tomlinson GE
Wang X
Fredericksen Z
Pankratz VS
Lindor NM
Szabo C
Offit K
Sakr R
Gaudet M
Bhatia J
Kauff N
Singer CF
Tea MK
Gschwantler-Kaulich D
Fink-Retter A
Mai PL
Greene MH
Imyanitov E
O'Malley FP
Ozcelik H
Glendon G
Toland AE
Gerdes AM
Thomassen M
Kruse TA
Jensen UB
Skytte AB
Caligo MA
Soller M
Henriksson K
Wachenfeldt vA
Arver B
Stenmark-Askmalm M
Karlsson P
Ding YC
Neuhausen SL
Beattie M
Pharoah PD
Moysich KB
Nathanson KL
Karlan BY
Gross J
John EM
Daly MB
Buys SM
Southey MC
Hopper JL
Terry MB
Chung W
Miron AF
Goldgar D
Chenevix-Trench G
Easton DF
Andrulis IL
Antoniou AC
Pokaż więcej
Corporate Authors :
Breast Cancer Family Registry
EMBRACE
GEMO Study Collaborators
HEBON
kConFab Investigators
Ontario Cancer Genetics Network
SWE-BRCA
CIMBA
Źródło :
Breast cancer research : BCR [Breast Cancer Res] 2011; Vol. 13 (6), pp. R110. Date of Electronic Publication: 2011 Nov 02.
Typ publikacji :
Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Genes, BRCA1*
Genes, BRCA2*
Genetic Predisposition to Disease*
Heterozygote*
Mutation*
Breast Neoplasms/*genetics
Breast Neoplasms/classification ; Breast Neoplasms/metabolism ; Female ; Humans ; Polymorphism, Single Nucleotide ; Receptors, Estrogen/metabolism ; Receptors, Progesterone/metabolism ; Risk
Czasopismo naukowe
Tytuł :
Deletion of chromosomes 13q and 14q is a common feature of tumors with BRCA2 mutations.
Autorzy :
Rouault A; French National Institute of Health and Medical Research (INSERM) Unit 916, University of Bordeaux, Bergonié Cancer Institute, Bordeaux, France.
Banneau G
Macgrogan G
Jones N
Elarouci N
Barouk-Simonet E
Venat L
Coupier I
Letouzé E
de Reyniès A
Bonnet F
Iggo R
Sévenet N
Longy M
Pokaż więcej
Źródło :
PloS one [PLoS One] 2012; Vol. 7 (12), pp. e52079. Date of Electronic Publication: 2012 Dec 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 13*
Chromosomes, Human, Pair 14*
Genes, BRCA2*
Mutation*
Breast Neoplasms/*genetics
Adult ; Aged ; Cluster Analysis ; Comparative Genomic Hybridization ; Female ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Genetic Predisposition to Disease ; Germ-Line Mutation ; Humans ; In Situ Hybridization, Fluorescence ; Middle Aged ; Polymorphism, Single Nucleotide ; ROC Curve ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
Autorzy :
Houdayer C; Service de Génétique, Institut Curie et Université Paris Descartes, Sorbonne Paris Cité, Paris, France. />Caux-Moncoutier V
Krieger S
Barrois M
Bonnet F
Bourdon V
Bronner M
Buisson M
Coulet F
Gaildrat P
Lefol C
Léone M
Mazoyer S
Muller D
Remenieras A
Révillion F
Rouleau E
Sokolowska J
Vert JP
Lidereau R
Soubrier F
Sobol H
Sevenet N
Bressac-de Paillerets B
Hardouin A
Tosi M
Sinilnikova OM
Stoppa-Lyonnet D
Pokaż więcej
Źródło :
Human mutation [Hum Mutat] 2012 Aug; Vol. 33 (8), pp. 1228-38. Date of Electronic Publication: 2012 May 11.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Pathology, Molecular/*methods
Pathology, Molecular/*standards
RNA Splicing/*genetics
Exons/genetics ; Female ; Humans
Czasopismo naukowe
Tytuł :
Alterations of the p53 and PIK3CA/AKT/mTOR pathways in angiosarcomas: a pattern distinct from other sarcomas with complex genomics.
Autorzy :
Italiano A; Department of Pathology, Memorial Sloan-Kettering Cancer Center, New York, New York 10065, USA. />Chen CL
Thomas R
Breen M
Bonnet F
Sevenet N
Longy M
Maki RG
Coindre JM
Antonescu CR
Pokaż więcej
Źródło :
Cancer [Cancer] 2012 Dec 01; Vol. 118 (23), pp. 5878-87. Date of Electronic Publication: 2012 May 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Genes, p53*
Mutation*
Hemangiosarcoma/*genetics
Phosphatidylinositol 3-Kinases/*physiology
Proto-Oncogene Proteins c-akt/*physiology
Signal Transduction/*physiology
TOR Serine-Threonine Kinases/*physiology
Adult ; Aged ; Aged, 80 and over ; Class I Phosphatidylinositol 3-Kinases ; Female ; Genomics ; Hemangiosarcoma/etiology ; Humans ; Male ; Middle Aged ; PTEN Phosphohydrolase/genetics ; Proto-Oncogene Proteins B-raf/genetics ; Proto-Oncogene Proteins c-mdm2/analysis
Czasopismo naukowe
Tytuł :
Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas.
Autorzy :
Isidor B; Service de Génétique Médicale, CHU Nantes, Nantes, France. />Bourdeaut F
Lafon D
Plessis G
Lacaze E
Kannengiesser C
Rossignol S
Pichon O
Briand A
Martin-Coignard D
Piccione M
David A
Delattre O
Jeanpierre C
Sévenet N
Le Caignec C
Pokaż więcej
Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Jul; Vol. 21 (7), pp. 784-7. Date of Electronic Publication: 2012 Nov 21.
Typ publikacji :
Journal Article
MeSH Terms :
Chromosome Deletion*
Chromosomes, Human, Pair 9/*genetics
Fetal Macrosomia/*genetics
Kidney Neoplasms/*genetics
Receptors, Cell Surface/*genetics
Wilms Tumor/*genetics
Adolescent ; Adult ; Child ; Comparative Genomic Hybridization ; Female ; Fetal Macrosomia/pathology ; Humans ; Kidney Neoplasms/pathology ; Mutation ; Patched Receptors ; Patched-1 Receptor ; Pregnancy ; Wilms Tumor/pathology
SCR Disease Name :
Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
Czasopismo naukowe
Tytuł :
Validation of a yeast functional assay for p53 mutations using clonal sequencing.
Autorzy :
Iggo R; INSERM U916, Institut Bergonié Comprehensive Cancer Centre, Univ. Bordeaux, F-33000, Bordeaux, France.
Rudewicz J
Monceau E
Sevenet N
Bergh J
Sjoblom T
Bonnefoi H
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Źródło :
The Journal of pathology [J Pathol] 2013 Dec; Vol. 231 (4), pp. 441-8.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't; Validation Study
MeSH Terms :
Genes, p53*
Mutation*
Breast Neoplasms/*genetics
DNA Mutational Analysis/*methods
Artifacts ; Base Sequence ; DNA, Neoplasm/genetics ; Female ; Humans ; Molecular Sequence Data ; Saccharomyces cerevisiae/genetics
Czasopismo naukowe
Tytuł :
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers.
Autorzy :
Kuchenbaecker KB
Neuhausen SL
Robson M
Barrowdale D
McGuffog L
Mulligan AM
Andrulis IL
Spurdle AB
Schmidt MK
Schmutzler RK
Engel C
Wappenschmidt B
Nevanlinna H
Thomassen M
Southey M
Radice P
Ramus SJ
Domchek SM
Nathanson KL
Lee A
Healey S
Nussbaum RL
Rebbeck TR
Arun BK
James P
Karlan BY
Lester J
Cass I
Terry MB
Daly MB
Goldgar DE
Buys SS
Janavicius R
Tihomirova L
Tung N
Dorfling CM
van Rensburg EJ
Steele L
v O Hansen T
Ejlertsen B
Gerdes AM
Nielsen FC
Dennis J
Cunningham J
Hart S
Slager S
Osorio A
Benitez J
Duran M
Weitzel JN
Tafur I
Hander M
Peterlongo P
Manoukian S
Peissel B
Roversi G
Scuvera G
Bonanni B
Mariani P
Volorio S
Dolcetti R
Varesco L
Papi L
Tibiletti MG
Giannini G
Fostira F
Konstantopoulou I
Garber J
Hamann U
Donaldson A
Brewer C
Foo C
Evans DG
Frost D
Eccles D
Douglas F
Brady A
Cook J
Tischkowitz M
Adlard J
Barwell J
Ong KR
Walker L
Izatt L
Side LE
Kennedy MJ
Rogers MT
Porteous ME
Morrison PJ
Platte R
Eeles R
Davidson R
Hodgson S
Ellis S
Godwin AK
Rhiem K
Meindl A
Ditsch N
Arnold N
Plendl H
Niederacher D
Sutter C
Steinemann D
Bogdanova-Markov N
Kast K
Varon-Mateeva R
Wang-Gohrke S
Gehrig A
Markiefka B
Buecher B
Lefol C
Stoppa-Lyonnet D
Rouleau E
Prieur F
Damiola F
Barjhoux L
Faivre L
Longy M
Sevenet N
Sinilnikova OM
Mazoyer S
Bonadona V
Caux-Moncoutier V
Isaacs C
Van Maerken T
Claes K
Piedmonte M
Andrews L
Hays J
Rodriguez GC
Caldes T
de la Hoya M
Khan S
Hogervorst FB
Aalfs CM
de Lange JL
Meijers-Heijboer HE
van der Hout AH
Wijnen JT
van Roozendaal KE
Mensenkamp AR
van den Ouweland AM
van Deurzen CH
van der Luijt RB
Olah E
Diez O
Lazaro C
Blanco I
Teulé A
Menendez M
Jakubowska A
Lubinski J
Cybulski C
Gronwald J
Jaworska-Bieniek K
Durda K
Arason A
Maugard C
Soucy P
Montagna M
Agata S
Teixeira MR
Olswold C
Lindor N
Pankratz VS
Hallberg E
Wang X
Szabo CI
Vijai J
Jacobs L
Corines M
Lincoln A
Berger A
Fink-Retter A
Singer CF
Rappaport C
Kaulich DG
Pfeiler G
Tea MK
Phelan CM
Mai PL
Greene MH
Rennert G
Imyanitov EN
Glendon G
Toland AE
Bojesen A
Pedersen IS
Jensen UB
Caligo MA
Friedman E
Berger R
Laitman Y
Rantala J
Arver B
Loman N
Borg A
Ehrencrona H
Olopade OI
Simard J
Easton DF
Chenevix-Trench G
Offit K
Couch FJ
Antoniou AC
Pokaż więcej
Corporate Authors :
Breast Cancer Family Registry
EMBRACE Study
GEMO Study Collaborators
HEBON
KConFab Investigators
CIMBA
Źródło :
Breast cancer research : BCR [Breast Cancer Res] 2014 Dec 31; Vol. 16 (6), pp. 3416. Date of Electronic Publication: 2014 Dec 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Breast Neoplasms/*genetics
Carcinoma, Ductal, Breast/*genetics
Carcinoma, Lobular/*genetics
Adult ; Aged ; Alleles ; Breast Neoplasms/metabolism ; Breast Neoplasms/pathology ; Carcinoma/genetics ; Carcinoma/metabolism ; Carcinoma/pathology ; Carcinoma, Ductal, Breast/metabolism ; Carcinoma, Ductal, Breast/pathology ; Carcinoma, Lobular/metabolism ; Carcinoma, Lobular/pathology ; Female ; Genetic Predisposition to Disease ; Heterozygote ; Humans ; Middle Aged ; Neoplasm Grading ; Neoplasm Staging ; Receptor, ErbB-2/metabolism ; Receptors, Estrogen/metabolism ; Receptors, Progesterone/metabolism
Czasopismo naukowe
Tytuł :
[Should knowledge of BRCA1 status impact the choice of chemotherapy in metastatic breast cancer: a review].
Autorzy :
Clergue O; Institut Bergonié, département d'oncologie médicale, 33076 Bordeaux cedex, France; Institut Bergonié, département de bio-pathologie, laboratoire de génétique moléculaire, unité d'oncogénétique, 33076 Bordeaux cedex, France.
Jones N; Institut Bergonié, département de bio-pathologie, laboratoire de génétique moléculaire, unité d'oncogénétique, 33076 Bordeaux cedex, France.
Sévenet N; Institut Bergonié, département de bio-pathologie, laboratoire de génétique moléculaire, unité d'oncogénétique, 33076 Bordeaux cedex, France.
Quenel-Tueux N; Institut Bergonié, département d'oncologie médicale, 33076 Bordeaux cedex, France.
Debled M; Institut Bergonié, département d'oncologie médicale, 33076 Bordeaux cedex, France. Electronic address: .
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Transliterated Title :
La connaissance du statut de BRCA1 devrait-elle avoir un impact sur le choix d'un cytotoxique dans le cancer du sein ? Revue de la littérature.
Źródło :
Bulletin du cancer [Bull Cancer] 2015 Mar; Vol. 102 (3), pp. 245-55. Date of Electronic Publication: 2015 Mar 07.
Typ publikacji :
English Abstract; Journal Article; Review
MeSH Terms :
Genes, BRCA1*
Mutation*
Antineoplastic Combined Chemotherapy Protocols/*therapeutic use
Breast Neoplasms/*drug therapy
Breast Neoplasms/*genetics
Anthracyclines/therapeutic use ; Antineoplastic Agents/therapeutic use ; Antineoplastic Combined Chemotherapy Protocols/administration & dosage ; Breast Neoplasms/pathology ; Cisplatin/administration & dosage ; Cyclophosphamide/administration & dosage ; Female ; Fluorouracil/administration & dosage ; Humans ; Methotrexate/administration & dosage ; Phthalazines/administration & dosage ; Piperazines/administration & dosage ; Prospective Studies ; Retrospective Studies ; Taxoids/therapeutic use
SCR Protocol :
CMF protocol
Czasopismo naukowe
Tytuł :
BRCA Share: A Collection of Clinical BRCA Gene Variants.
Autorzy :
Béroud C; Aix Marseille Univ, INSERM, GMGF, Marseille, France.; APHM, Hôpital TIMONE Enfants, Laboratoire de Génétique Moléculaire, Marseille, France.
Letovsky SI; Laboratory Corporation of America, Westborough, Massachusetts.
Braastad CD; Quest Diagnostics, Marlborough, Massachusetts.
Caputo SM; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Beaudoux O; CHU et Institut Jean Godinot, Reims, France.
Bignon YJ; Centre Jean Perrin, Clermont-Ferrand, France.
Bressac-De Paillerets B; Institut Gustave Roussy, Villejuif, France.
Bronner M; CHU de Nancy-Brabois, Vandoeuvre-lés-Nancy, France.
Buell CM; Quest Diagnostics, Marlborough, Massachusetts.
Collod-Béroud G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Coulet F; Groupe hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Laboratoire d'Oncogénétique et Angiogénétique moléculaire, Université Pierre et Marie Curie, Paris, France.
Derive N; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.
Divincenzo C; Quest Diagnostics, Marlborough, Massachusetts.
Elzinga CD; Quest Diagnostics, Marlborough, Massachusetts.
Garrec C; CHU, Institut de Biologie, Hôtel Dieu, Nantes, France.
Houdayer C; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Karbassi I; Quest Diagnostics, Marlborough, Massachusetts.
Lizard S; CHU de Dijon, Hôpital d'Enfants, Service de Génétique Médicale, Dijon, France.
Love A; Quest Diagnostics, Marlborough, Massachusetts.
Muller D; Centre Paul Strauss, Strasbourg, France.
Nagan N; Laboratory Corporation of America, Westborough, Massachusetts.
Nery CR; Quest Diagnostics, San Juan Capistrano, California.
Rai G; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Revillion F; Centre Oscar Lambret, Unité d'Oncologie Moléculaire Humaine, Lille, France.
Salgado D; Aix Marseille Univ, INSERM, GMGF, Marseille, France.
Sévenet N; Institut Bergonié, Bordeaux, France.
Sinilnikova O; Hospices Civils de Lyon and Centre Léon Bérard, Lyon, France.
Sobol H; Institut Paoli-Calmettes, Marseille, France.
Stoppa-Lyonnet D; Service de Génétique, Department de Biologie des Tumeurs, Institut Curie, Paris, France.; Université Paris Descartes, Paris, France.
Toulas C; Institut Claudius Régaud, Toulouse, France.
Trautman E; Laboratory Corporation of America, Westborough, Massachusetts.
Vaur D; Laboratoire de biologie et de génétique du cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, Caen, France.
Vilquin P; Laboratoire de Biologie Cellulaire et Hormonale (CHU Arnaud de Villeneuve), Montpellier, France.
Weymouth KS; Laboratory Corporation of America, Westborough, Massachusetts.
Willis A; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Eisenberg M; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Strom CM; Quest Diagnostics, San Juan Capistrano, California.
Pokaż więcej
Corporate Authors :
Laboratory Corporation of America Variant Classification Group; Laboratory Corporation of America, Westborough, Massachusetts.; Laboratory Corporation of America, Research Triangle Park, North Carolina.
Quest Diagnostics Variant Classification Group; Quest Diagnostics, Marlborough, Massachusetts.; Quest Diagnostics, San Juan Capistrano, California.
UNICANCER Genetic Group BRCA Laboratory Network
Źródło :
Human mutation [Hum Mutat] 2016 Dec; Vol. 37 (12), pp. 1318-1328. Date of Electronic Publication: 2016 Sep 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Databases, Factual*/economics
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Breast Neoplasms/*genetics
Ovarian Neoplasms/*genetics
Data Curation ; Female ; Genetic Predisposition to Disease ; Humans ; Mutation
Czasopismo naukowe
Tytuł :
Nævomatose basocellulaire diffuse du tronc chez une enfant de 10 ans traitée par Vismodégib
Autorzy :
Salhi, A.
Messaoudi, S.
Cheddani, N.
Oughanem, S.
Cavelier-Balloy, B.
Boukendjakdji, A.
Leclerc-Mercier, S.
Sevenet, N.
Bourrat, E.
Bessis, D.
Djéridane, A.
Hammoud, H.
Sévenet, N.
Bensalah, K.
Guedouar, A.
Benkaidali, I.
Pokaż więcej
Źródło :
Annales de Dermatologie et de Vénéréologie (ScienceDirect); December 2016, Vol. 143 Issue: 12, Number 12 Supplement 1 pS388-S388, 1p
Periodyk
Tytuł :
Association of breast cancer risk in BRCA1 and BRCA2 mutation carriers with genetic variants showing differential allelic expression: identification of a modifier of breast cancer risk at locus 11q22.3.
Autorzy :
Hamdi Y; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Soucy P; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Kuchenbaeker KB; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.; The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus Hinxton, Cambridge, CB10 1HH, UK.
Pastinen T; Department of Human Genetics, McGill University, Montreal, QC, H3A 1B1, Canada.; McGill University and Genome Quebec Innovation Centre, Montreal, QC, H3A 0G1, Canada.
Droit A; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Lemaçon A; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada.
Adlard J; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, LS7 4SA, UK.
Aittomäki K; Department of Clinical Genetics, Helsinki University Hospital, HUS, Meilahdentie 2, P.O. BOX 160, 00029, Helsinki, Finland.
Andrulis IL; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.; Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Arason A; Department of Pathology hus 9, Landspitali-LSH v/Hringbraut, 101, Reykjavík, Iceland.; BMC (Biomedical Centre), Faculty of Medicine, University of Iceland, Vatnsmyrarvegi 16, 101, Reykjavík, Iceland.
Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105, Kiel, Germany.
Arun BK; Department of Breast Medical Oncology and Clinical Cancer Genetics Program, University of Texas MD Anderson Cancer Center, 1515 Pressler Street CBP 5, Houston, TX, 77030, USA.
Azzollini J; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Bane A; Department of Pathology & Molecular Medicine, Juravinski Hospital and Cancer Centre, McMaster University, 711 Concession Street, Hamilton, ON, L8V 1C3, Canada.
Barjhoux L; Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Barrowdale D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Benitez J; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.; Biomedical Network on Rare Diseases (CIBERER), 28029, Madrid, Spain.; Human Genotyping (CEGEN) Unit, Human Cancer Genetics Program, Spanish National Cancer Research Centre (CNIO), Madrid, Spain.
Berthet P; Centre François Baclesse, 3 avenue Général Harris, 14076, Caen, France.
Blok MJ; Department of Clinical Genetics, Maastricht University Medical Center, P.O. Box 5800, 6202 AZ, Maastricht, The Netherlands.
Bobolis K; City of Hope Clinical Cancer Genomics Community Research Network, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Bonadona V; Unité de Prévention et d'Epidémiologie Génétique, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Bonanni B; Division of Cancer Prevention and Genetics, Istituto Europeo di Oncologia (IEO), Via Ripamonti 435, 20141, Milan, Italy.
Bradbury AR; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Brewer C; Department of Clinical Genetics, Royal Devon & Exeter Hospital, Exeter, EX1 2ED, UK.
Buecher B; Service de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Buys SS; Department of Medicine, Huntsman Cancer Institute, 2000 Circle of Hope, Salt Lake City, UT, 84112, USA.
Caligo MA; Section of Genetic Oncology, Department of Laboratory Medicine, University and University Hospital of Pisa, Pisa, Italy.
Chiquette J; Unité de recherche en santé des populations, Centre des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, 1050 chemin Sainte-Foy, Quebec, QC, G1S 4L8, Canada.
Chung WK; Departments of Pediatrics and Medicine, Columbia University, 1150 St. Nicholas Avenue, New York, NY, 10032, USA.
Claes KB; Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Daly MB; Division of Population Science, Fox Chase Cancer Center, 333 Cottman Avenue, Philadelphia, PA, 19111, USA.
Damiola F; Bâtiment Cheney D, Centre Léon Bérard, 28 rue Laënnec, 69373, Lyon, France.
Davidson R; Department of Clinical Genetics, South Glasgow University Hospitals, Glasgow, G51 4TF, UK.
De la Hoya M; Molecular Oncology Laboratory, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
De Leeneer K; Center for Medical Genetics, Ghent University, De Pintelaan 185, 9000, Ghent, Belgium.
Diez O; Oncogenetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron University Hospital, Clinical and Molecular Genetics Area, Passeig Vall d'Hebron 119-129, 08035, Barcelona, Spain.
Ding YC; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Dolcetti R; Cancer Bioimmunotherapy Unit, Department of Medical Oncology, Centro di Riferimento Oncologico, IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) National Cancer Institute, Via Franco Gallini 2, 33081, Aviano, PN, Italy.; University of Queensland Diamantina Institute, Translational Research Institute, Brisbane, QLD, Australia.
Domchek SM; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Dorfling CM; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
Eccles D; Faculty of Medicine, University of Southampton, Southampton University Hospitals NHS Trust, Southampton, UK.
Eeles R; Oncogenetics Team, The Institute of Cancer Research and Royal Marsden NHS Foundation Trust, Sutton, SM2 5NG, UK.
Einbeigi Z; Department of Oncology, Sahlgrenska University Hospital, 41345, Göteborg, Sweden.
Ejlertsen B; Department of Oncology, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, 04107, Leipzig, Germany.; LIFE, Leipzig Research Centre for Civilization Diseases, University of Leipzig, Leipzig, Germany.
Gareth Evans D; Genomic Medicine, Manchester Academic Health Sciences Centre, Institute of Human Development, Manchester University, Central Manchester University Hospitals, NHS Foundation Trust, Manchester, M13 9WL, UK.
Feliubadalo L; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Foretova L; Department of Cancer Epidemiology and Genetics, Masaryk Memorial Cancer Institute, Zluty kopec 7, 65653, Brno, Czech Republic.
Fostira F; Molecular Diagnostics Laboratory, (INRASTES) Institute of Nuclear and Radiological Sciences and Technology, National Centre for Scientific Research 'Demokritos', Patriarchou Gregoriou & Neapoleos str., Aghia Paraskevi Attikis, Athens, Greece.
Foulkes WD; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.
Fountzilas G; Department of Medical Oncology, Papageorgiou Hospital, Aristotle University of Thessaloniki School of Medicine, Thessaloníki, Greece.
Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, 69978, Ramat Aviv, Israel.
Frost D; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Ganschow P; Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Ganz PA; UCLA Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Jonsson Comprehensive Cancer Center, 650 Charles Young Drive South, Room A2-125 HS, Los Angeles, CA, 90095-6900, USA.
Garber J; Cancer Risk and Prevention Clinic, Dana-Farber Cancer Institute, 450 Brookline Avenue, Boston, MA, USA.
Gayther SA; Department of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA, 90033, USA.
Gerdes AM; Department of Clincial Genetics, Rigshospitalet, Blegdamsvej 9, 4062, Copenhagen, Denmark.
Glendon G; Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital, Toronto, ON, M5G 1X5, Canada.
Godwin AK; Department of Pathology and Laboratory Medicine, University of Kansas Medical Center, 3901 Rainbow Boulevard, 4019 Wahl Hall East, MS 3040, Kansas City, Kansas, USA.
Goldgar DE; Department of Dermatology, University of Utah School of Medicine, 30 North 1900 East, SOM 4B454, Salt Lake City, UT, 84132, USA.
Greene MH; Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
Gronwald J; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Hahnen E; Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Im Neuenheimer Feld 580, 69120, Heidelberg, Germany.
Hansen TV; Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Blegdamsvej 9, 2100, Copenhagen, Denmark.
Hart S; Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Hays JL; Division of Medical Oncology, Department of Internal Medicine, The Ohio State University, Columbus, OH, 43210, USA.; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, The Ohio State University, Columbus, OH, 43210, USA.; Comprehensive Cancer Center Arthur C. James Cancer Hospital and Richard J. Solove Research Institute Biomedical Research Tower, Room 588, 460 West 12th Avenue, Columbus, OH, 43210, USA.
Hogervorst FB; Family Cancer Clinic, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE, Amsterdam, The Netherlands.
Hulick PJ; Center for Medical Genetics, NorthShore University HealthSystem, University of Chicago Pritzker School of Medicine, 1000 Central Street, Suite 620, Evanston, IL, 60201, USA.
Imyanitov EN; N.N. Petrov Institute of Oncology, St. Petersburg, Russia, 197758.
Isaacs C; Lombardi Comprehensive Cancer Center, Georgetown University, 3800 Reservoir Road NW, Washington, DC, 20007, USA.
Izatt L; Clinical Genetics, Guy's and St. Thomas' NHS Foundation Trust, London, SE1 9RT, UK.
Jakubowska A; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
James P; Familial Cancer Centre, Peter MacCallum Cancer Centre, Melbourne, VIC, 3000, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC, 3010, Australia.
Janavicius R; Hematology, Oncology and Transfusion Medicine Center, Department of Molecular and Regenerative Medicine, Vilnius University Hospital Santariskiu Clinics, Santariskiu st. 2, 08661, Vilnius, Lithuania.; State Research Institute Centre for Innovative Medicine, Zygymantu st. 9, Vilnius, Lithuania.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgaardsvej 21C, Århus N, Denmark.
John EM; Department of Epidemiology, Cancer Prevention Institute of California, 2201 Walnut Avenue Suite 300, Fremont, CA, 94538, USA.; Department of Health Research and Policy (Epidemiology) and Stanford Cancer Institute, Stanford University School of Medicine, Stanford, CA, USA.
Joseph V; Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
Just W; Institute of Human Genetics, University of Ulm, 89091, Ulm, Germany.
Kaczmarek K; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Karlan BY; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, 90048, USA.
Kets CM; Department of Human Genetics, Radboud University Medical Center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands.
Kirk J; Westmead Hospital, Familial Cancer Service, Hawkebury Road, P.O. Box 533, Wentworthville, NSW, 2145, Australia.
Kriege M; Department of Medical Oncology, Family Cancer Clinic, Erasmus University Medical Center, P.O. Box 5201, 3008 AE, Rotterdam, The Netherlands.
Laitman Y; The Susanne Levy Gertner Oncogenetics Unit, Institute of Human Genetics, Chaim Sheba Medical Center, 52621, Ramat Gan, Israel.
Laurent M; Service de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Lazaro C; Molecular Diagnostic Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Leslie G; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Lester J; Women's Cancer Program at the Samuel Oschin Comprehensive Cancer Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Suite 290W, Los Angeles, CA, 90048, USA.
Lesueur F; Genetic Epidemiology of Cancer Team, INSERM U900, Institut Curie Mines ParisTech, PSL University, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Liljegren A; Department of Oncology, Karolinska University Hospital, 17176, Stockholm, Sweden.
Loman N; Department of Oncology, Lund University Hospital, 22185, Lund, Sweden.
Loud JT; Clinical Genetics Branch, DCEG, NCI NIH, 9609 Medical Center Drive, Room 6E-454, Bethesda, MD, USA.
Manoukian S; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Mariani M; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, INSERM U1028, CNRS UMR5292, University of Lyon, Lyon, France.
McGuffog L; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Meijers-Heijboer HE; Department of Clinical Genetics, VU University Medical Center, P.O. Box 7057, 1007 MB, Amsterdam, The Netherlands.
Meindl A; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Christian-Albrechts University Kiel, Campus Kiel, 24105, Kiel, Germany.
Miller A; NRG Oncology Statistics and Data Management Center, Roswell Park Cancer Institute, Elm St & Carlton St, Buffalo, NY, 14263, USA.
Montagna M; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128, Padua, Italy.
Mulligan AM; Departments of Molecular Genetics and Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.; Department of Laboratory Medicine and the Keenan Research Centre of the Li Ka Shing Knowledge Institute, St Michael's Hospital, Toronto, ON, Canada.
Nathanson KL; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA, USA.
Nevanlinna H; Department of Obstetrics and Gynecology, University of Helsinki and Helsinki University Hospital, Biomedicum Helsinki, Haartmaninkatu 8, HUS, P.O. BOX 700, 00029, Helsinki, Finland.
Nussbaum RL; Department of Medicine and Genetics, University of California, 513 Parnassus Ave., HSE 901E, San Francisco, CA, 94143-0794, USA.
Olah E; Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary.
Olopade OI; Department of Medicine, University of Chicago, 5841 South Maryland Avenue, MC 2115, Chicago, IL, USA.
Ong KR; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Edgbaston, Birmingham, UK.
Oosterwijk JC; Department of Genetics, University Medical Center Groningen, University of Groningen, 9700 RB, Groningen, The Netherlands.
Osorio A; Human Genetics Group, Spanish National Cancer Centre (CNIO), Madrid, Spain.; Biomedical Network on Rare Diseases (CIBERER), 28029, Madrid, Spain.
Papi L; Unit of Medical Genetics, Department of Biomedical Experimental and Clinical Sciences, University of Florence, Viale Morgagni 50, 50134, Florence, Italy.
Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, 103 Daehak-ro, Jongno-gu, Seoul, 110-799, Korea.
Pedersen IS; Section of Molecular Diagnostics, Department of Biochemistry, Aalborg University Hospital, Reberbansgade 15, Ålborg, Denmark.
Peissel B; Unit of Medical Genetics, Department of Preventive and Predictive Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), Via Giacomo Venezian 1, 20133, Milan, Italy.
Segura PP; Department of Oncology, Hospital Clinico San Carlos, IdISSC (El Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Martin Lagos s/n, Madrid, Spain.
Peterlongo P; IFOM, The FIRC (Italian Foundation for Cancer Research) Institute of Molecular Oncology, c/o IFOM-IEO Campus, Via Adamello 16, 20139, Milan, Italy.
Phelan CM; Department of Cancer Epidemiology, Moffitt Cancer Center, Tampa, FL, 33612, USA.
Radice P; Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Preventive and Predicted Medicine, Fondazione IRCCS (Istituto Di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale Tumori (INT), c/o Amaedeolab via GA Amadeo 42, 20133, Milan, Italy.
Rantala J; Department of Clinical Genetics, Karolinska University Hospital, L5:03, 171 76, Stockholm, Sweden.
Rappaport-Fuerhauser C; Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Rennert G; Clalit National Israeli Cancer Control Center and Department of Community Medicine and Epidemiology, Carmel Medical Center and B. Rappaport Faculty of Medicine, 7 Michal St., 34362, Haifa, Israel.
Richardson A; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Robson M; Clinical Genetics, Services Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10065, USA.
Rodriguez GC; Division of Gynecologic Oncology, NorthShore University HealthSystem, University of Chicago, 2650 Ridge Avenue, Suite 1507, Walgreens, Evanston, IL, 60201, USA.
Rookus MA; Department of Epidemiology, Netherlands Cancer Institute, P.O. Box 90203, 1006 BE, Amsterdam, The Netherlands.
Schmutzler RK; Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.; Center for Hereditary Breast and Ovarian Cancer, Medical Faculty, University Hospital Cologne, 50931, Cologne, Germany.; Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Sevenet N; Oncogénétique, Institut Bergonié, 229 cours de l'Argonne, 33076, Bordeaux, France.
Shah PD; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.
Singer CF; Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Slavin TP; Clinical Cancer Genetics, City of Hope, 1500 East Duarte Road, Duarte, CA, 91010, USA.
Snape K; Medical Genetics Unit, St George's, University of London, London, SW17 0RE, UK.
Sokolowska J; Laboratoire de génétique médicale Nancy Université, Centre Hospitalier Régional et Universitaire, Rue du Morvan cedex 1, 54511, Vandoeuvre-les-Nancy, France.
Sønderstrup IM; Department of Pathology Region Zealand Section Slagelse, Slagelse Hospital, Ingemannsvej 18 Slagelse, Cpoenhagen, Denmark.
Southey M; Genetic Epidemiology Laboratory, Department of Pathology, University of Melbourne, Parkville, VIC, 3010, Australia.
Spurdle AB; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
Stadler Z; Clinical Genetics Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY, USA.
Stoppa-Lyonnet D; Service de Génétique Oncologique, Institut Curie, 26 rue d'Ulm, 75248, Paris Cedex 05, France.
Sukiennicki G; Department of Genetics and Pathology, Pomeranian Medical University, Polabska 4, 70-115, Szczecin, Poland.
Sutter C; Institute of Human Genetics, Department of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Tan Y; Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Tea MK; Department of OB/GYN, Medical University of Vienna, Waehringer Guertel 18-20, A, 1090, Vienna, Austria.
Teixeira MR; Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.; Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal.
Teulé A; Genetic Counseling Unit, Hereditary Cancer Program, IDIBELL (Bellvitge Biomedical Research Institute), Catalan Institute of Oncology, Gran Via de l'Hospitalet, 199-203, L'Hospitalet, 08908, Barcelona, Spain.
Teo SH; Cancer Research Initiatives Foundation, Sime Darby Medical Centre, 1 Jalan SS12/1A, 47500, Subang Jaya, Malaysia.; University Malaya Cancer Research Institute, University Malaya, 1 Jalan SS12/1A, 50603, Kuala Lumpur, Malaysia.
Terry MB; Department of Epidemiology, Columbia University, New York, NY, USA.
Thomassen M; Department of Clinical Genetics, Odense University Hospital, Sonder Boulevard 29, Odense C, Denmark.
Tihomirova L; Latvian Biomedical Research and Study Centre, Ratsupites str 1, Riga, Latvia.
Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montreal, QC, Canada.; Department of Medical Genetics Level 6 Addenbrooke's Treatment Centre, Addenbrooke's Hospital, Hills Road, Box 134, Cambridge, CB2 0QQ, UK.
Tognazzo S; Immunology and Molecular Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Via Gattamelata 64, 35128, Padua, Italy.
Toland AE; Division of Human Genetics, Departments of Internal Medicine and Cancer Biology and Genetics Comprehensive Cancer Center, The Ohio State University, 998 Biomedical Research Tower, Columbus, OH, 43210, USA.
Tung N; Department of Medical Oncology, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, Boston, MA, 02215, USA.
van den Ouweland AM; Department of Clinical Genetics, Family Cancer Clinic, Erasmus University Medical Center, 330 Brookline Avenue, P.O. Box 2040, 3000 CA, Rotterdam, The Netherlands.
van der Luijt RB; Department of Medical Genetics, University Medical Center Utrecht, 3584 EA, Utrecht, The Netherlands.
van Engelen K; Department of Clinical Genetics, Academic Medical Center, P.O. Box 22700, 1100 DE, Amsterdam, The Netherlands.
van Rensburg EJ; Cancer Genetics Laboratory, Department of Genetics, University of Pretoria, Private Bag X323, Arcadia, 0007, South Africa.
Varon-Mateeva R; Institute of Human Genetics, Charite Berlin, Campus Virchov Klinikum, 13353, Berlin, Germany.
Wappenschmidt B; Centre of Familial Breast and Ovarian Cancer, Department of Gynaecology and Obstetrics and Centre for Integrated Oncology (CIO), Center for Molecular Medicine Cologne (CMMC), University Hospital of Cologne, 50931, Cologne, Germany.
Wijnen JT; Department of Human Genetics & Department of Clinical Genetics, Leiden University Medical Center, 2300 RC, Leiden, The Netherlands.
Rebbeck T; Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA, 19104, USA.; Center for Clinical Epidemiology and Biostatistics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
Chenevix-Trench G; Genetics and Computational Biology Department, QIMR Berghofer Medical Research Institute, Herston Road, Brisbane, QLD, 4006, Australia.
Offit K; Clinical Genetics Research Laboratory, Department of Medicine, Memorial Sloan-Kettering Cancer Center, 1275 York Avenue, New York, NY, 10044, USA.
Couch FJ; Department of Health Sciences Research, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
Nord S; Department of Cancer Genetics, Institute for Cancer Research, Oslo University Hospital, Radiumhospitalet, 0372, Oslo, Norway.
Easton DF; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Antoniou AC; Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Strangeways Research Laboratory, Worts Causeway, Cambridge, UK.
Simard J; Genomics Center, Centre Hospitalier Universitaire de Québec Research Center and Laval University, 2705 Laurier Boulevard, Quebec, QC, G1V 4G2, Canada. .
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Corporate Authors :
EMBRACE
GEMO Study Collaborators
HEBON
KConFab Investigators
Źródło :
Breast cancer research and treatment [Breast Cancer Res Treat] 2017 Jan; Vol. 161 (1), pp. 117-134. Date of Electronic Publication: 2016 Oct 28.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
MeSH Terms :
Alleles*
Genes, BRCA1*
Genes, BRCA2*
Heterozygote*
Mutation*
Breast Neoplasms/*epidemiology
Breast Neoplasms/*etiology
Biomarkers, Tumor ; Chromosomes, Human, Pair 11 ; Female ; Gene Expression ; Genetic Predisposition to Disease ; Genetic Variation ; Humans ; Quantitative Trait Loci ; Risk
Czasopismo naukowe
Tytuł :
Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.
Autorzy :
Crivelli L; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
Bubien V; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
Jones N; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
Chiron J; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.
Bonnet F; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
Barouk-Simonet E; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.
Couzigou P; Department of Hepato-Gastroenterology, Hôpital Haut Lévêque, Pessac, France.
Sevenet N; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
Caux F; Department of Dermatology, Hôpital Avicenne, Université Paris 13-Sorbonne Paris Cité, Bobigny, France.
Longy M; Cancer Genetics Unit, Institut Bergonié, Bordeaux, France.; INSERM U1218, University of Bordeaux, Bordeaux, France.
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Źródło :
European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Sep; Vol. 25 (9), pp. 1087-1091. Date of Electronic Publication: 2017 May 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alu Elements*
Hamartoma Syndrome, Multiple/*genetics
PTEN Phosphohydrolase/*genetics
Adult ; Exome ; Female ; Genetic Heterogeneity ; Hamartoma Syndrome, Multiple/diagnosis ; Humans ; Male ; Middle Aged ; Mutagenesis, Insertional ; Mutation Rate
Czasopismo naukowe
Tytuł :
Expression of Gastrin-Releasing Peptide Receptor in Breast Cancer and Its Association with Pathologic, Biologic, and Clinical Parameters: A Study of 1,432 Primary Tumors.
Autorzy :
Morgat C; Nuclear Medicine Department, University Hospital of Bordeaux, F-33076 Bordeaux, France .; University Bordeaux, INCIA, UMR 5287, F-33400 Talence, France.; CNRS, INCIA, UMR 5287, F-33400 Talence, France.
MacGrogan G; Surgical Pathology Unit, Department of BioPathology, Institut Bergonié, F-33076 Bordeaux, France.; INSERM, ACTION U1218, F-33076 Bordeaux, France.
Brouste V; Clinical and Epidemiological Research Unit, Institut Bergonié, F-33076 Bordeaux, France.
Vélasco V; Surgical Pathology Unit, Department of BioPathology, Institut Bergonié, F-33076 Bordeaux, France.; INSERM, ACTION U1218, F-33076 Bordeaux, France.
Sévenet N; INSERM, ACTION U1218, F-33076 Bordeaux, France.; Oncogenetics Unit, Department of BioPathology, Institut Bergonié, F-33076 Bordeaux, France; and.
Bonnefoi H; INSERM, ACTION U1218, F-33076 Bordeaux, France.; Department of Medical Oncology, Institut Bergonié, F-33076 Bordeaux, France.
Fernandez P; Nuclear Medicine Department, University Hospital of Bordeaux, F-33076 Bordeaux, France.; University Bordeaux, INCIA, UMR 5287, F-33400 Talence, France.; CNRS, INCIA, UMR 5287, F-33400 Talence, France.
Debled M; Department of Medical Oncology, Institut Bergonié, F-33076 Bordeaux, France.
Hindié E; Nuclear Medicine Department, University Hospital of Bordeaux, F-33076 Bordeaux, France.; University Bordeaux, INCIA, UMR 5287, F-33400 Talence, France.; CNRS, INCIA, UMR 5287, F-33400 Talence, France.
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Źródło :
Journal of nuclear medicine : official publication, Society of Nuclear Medicine [J Nucl Med] 2017 Sep; Vol. 58 (9), pp. 1401-1407. Date of Electronic Publication: 2017 Mar 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Neoplastic*
Breast Neoplasms/*metabolism
Breast Neoplasms/*pathology
Receptors, Bombesin/*metabolism
Adult ; Breast Neoplasms/diagnosis ; Cell Line, Tumor ; Female ; Humans ; Lymphatic Metastasis ; Male ; Prognosis ; Receptors, Estrogen/metabolism
Czasopismo naukowe
Tytuł :
Combined tumor genomic profiling and exome sequencing in a breast cancer family implicates ATM in tumorigenesis: A proof of principle study.
Autorzy :
Bubien V; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
Bonnet F; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
Dupiot-Chiron J; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
Barouk-Simonet E; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
Jones N; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
de Reynies A; Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identité des Tumeurs), Paris, France.
MacGrogan G; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; BioPathology Department, Institut Bergonié, Bordeaux, France.
Sevenet N; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
Letouzé E; Programme CIT, Bioinformatics Department, Ligue Nationale contre le Cancer (Cartes d'Identité des Tumeurs), Paris, France.
Longy M; INSERM U1218, Mammary & Leukemic Oncogenesis group, Université de Bordeaux, Bordeaux, France.; Cancer Genetics Department, Institut Bergonié, Bordeaux, France.
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Źródło :
Genes, chromosomes & cancer [Genes Chromosomes Cancer] 2017 Nov; Vol. 56 (11), pp. 788-799. Date of Electronic Publication: 2017 Aug 16.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Exome*
Germ-Line Mutation*
Ataxia Telangiectasia Mutated Proteins/*genetics
Breast Neoplasms/*genetics
Carcinogenesis/*genetics
Adult ; Aged ; Ataxia Telangiectasia Mutated Proteins/metabolism ; Breast Neoplasms/pathology ; Female ; Gene Expression Profiling ; Gene Frequency ; Humans ; Male ; Middle Aged ; Pedigree ; Polymorphism, Single Nucleotide ; Proof of Concept Study
Czasopismo naukowe
Tytuł :
Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome.
Autorzy :
Renaux-Petel M; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Paediatric Surgery, Rouen University Hospital, Rouen, France.
Charbonnier F; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Théry JC; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Medical Oncology, Henri Becquerel Centre, Rouen, France.
Fermey P; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Lienard G; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Bou J; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Coutant S; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Vezain M; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Kasper E; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Fourneaux S; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Manase S; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Blanluet M; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Leheup B; Department of Clinical Genetics, Nancy University Hospital, Nancy, France.
Mansuy L; Department of Paediatric Oncology, Nancy University Hospital, Nancy, France.
Champigneulle J; Department of Pathology, Nancy University Hospital, Nancy, France.
Chappé C; Department of Paediatric Oncology, Rennes University Hospital, Rennes, France.
Longy M; Department of Molecular Genetics, Bergonié Institute, Bordeaux, France.
Sévenet N; Department of Molecular Genetics, Bergonié Institute, Bordeaux, France.
Paillerets BB; Department of Medical Biology and Pathology, and Inserm U1186, Gustave Roussy, University of Paris-Saclay, Villejuif, France.
Guerrini-Rousseau L; Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.
Brugières L; Child and Adolescent Cancer Department, Gustave Roussy Cancer Campus, Villejuif, France.
Caron O; Department of Oncology, Gustave Roussy Cancer Campus, Villejuif, France.
Sabourin JC; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.; Department of Pathology, Rouen University Hospital, Rouen, France.
Tournier I; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Baert-Desurmont S; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Frébourg T; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
Bougeard G; Department of Genetics, Normandy Centre for Genomic and Personalized Medicine, Normandie University, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
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Źródło :
Journal of medical genetics [J Med Genet] 2018 Mar; Vol. 55 (3), pp. 173-180. Date of Electronic Publication: 2017 Oct 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
High-Throughput Nucleotide Sequencing*
Li-Fraumeni Syndrome/*genetics
Tumor Suppressor Protein p53/*genetics
Adrenocortical Carcinoma/blood ; Adrenocortical Carcinoma/genetics ; Adrenocortical Carcinoma/pathology ; Adult ; Breast Neoplasms/blood ; Breast Neoplasms/genetics ; Breast Neoplasms/pathology ; Child ; Choroid Plexus Neoplasms/blood ; Choroid Plexus Neoplasms/genetics ; Choroid Plexus Neoplasms/pathology ; Female ; Germ-Line Mutation/genetics ; Humans ; Li-Fraumeni Syndrome/blood ; Li-Fraumeni Syndrome/pathology ; Male ; Middle Aged ; Mosaicism ; Tumor Suppressor Protein p53/blood ; Young Adult
Czasopismo naukowe
Tytuł :
Germline SUFU mutation carriers and medulloblastoma: clinical characteristics, cancer risk, and prognosis.
Autorzy :
Guerrini-Rousseau L; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Dufour C; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Varlet P; Service de neuropathologie, Hôpital Sainte-Anne, Université Paris Descartes, Paris, France.
Masliah-Planchon J; PSL Research University, INSERM U830 Génétique et Biologie des Cancers Institut Curie, Paris, France.; Unité de génétique somatique, SIREDO pediatric oncology center, Institut Curie, Paris, France.
Bourdeaut F; PSL Research University, INSERM U830 Génétique et Biologie des Cancers Institut Curie, Paris, France.; Département d'oncologie Pédiatrique adolescents Jeunes Adultes, Institut Curie, Paris, France, SIREDO pediatric oncology center, Institut Curie, Paris, France.; Institut Curie SIRIC - Laboratoire de Recherche Translationnelle en Oncologie Pédiatrique, Institut Curie, Paris, France.
Guillaud-Bataille M; Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Abbas R; INSERM U1018, CESP, Université Paris-Sud, Université Paris-Saclay, Villejuif, France.; Service de Biostatistique et d'Epidémiologie, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Bertozzi AI; Unité d' Hémato-Immuno-Oncologie pédiatrique, CHU Toulouse, Toulouse, France.
Fouyssac F; Onco-hématologie pédiatrique, Hôpital d'Enfants, CHU Nancy, Nancy, France.
Huybrechts S; Hematology-Oncology Unit, Hôpital Universitaire des Enfants Reine Fabiola, ULB Université libre de Bruxelles, Brussels, Belgium.
Puget S; Service de neurochirurgie pédiatrique, Hôpital Necker-Enfants malades, Université Paris Descartes, Sorbonne Paris Cité, Paris, France.
Bressac-De Paillerets B; Département de Biologie et Pathologie Médicales, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Caron O; PSL Research University, INSERM U830 Génétique et Biologie des Cancers Institut Curie, Paris, France.; Unité de génétique somatique, SIREDO pediatric oncology center, Institut Curie, Paris, France.; Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Sevenet N; Laboratoire de génétique moléculaire, Département de bio-pathologie, Institut Bergonié, Bordeaux, France.; INSERM U1218, Université de Bordeaux, Bordeaux, France.; UFR des Sciences Pharmaceutiques, Université de Bordeaux, Bordeaux, France.
Dimaria M; Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Villebasse S; Département de Médecine Oncologique, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Delattre O; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Valteau-Couanet D; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Grill J; Unité Mixte de Recherche 8203 du Centre National de la Recherche Scientifique, Université Paris-Saclay, Villejuif, France.
Brugières L; Département de Cancérologie de l'Enfant et de l'Adolescent, Gustave Roussy, Université Paris-Saclay, Villejuif, France.
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Źródło :
Neuro-oncology [Neuro Oncol] 2018 Jul 05; Vol. 20 (8), pp. 1122-1132.
Typ publikacji :
Journal Article
MeSH Terms :
Germ-Line Mutation*
Heterozygote*
Biomarkers, Tumor/*genetics
Cerebellar Neoplasms/*pathology
Medulloblastoma/*pathology
Neoplasm Recurrence, Local/*pathology
Repressor Proteins/*genetics
Adolescent ; Adult ; Cerebellar Neoplasms/genetics ; Cerebellar Neoplasms/therapy ; Child ; Child, Preschool ; Combined Modality Therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Medulloblastoma/genetics ; Medulloblastoma/therapy ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/therapy ; Prognosis ; Retrospective Studies ; Risk Factors ; Survival Rate ; Young Adult
Czasopismo naukowe
Tytuł :
Mutations in SUFU and PTCH1 genes may cause different cutaneous cancer predisposition syndromes: similar, but not the same.
Autorzy :
Huq AJ; Department of Genomic Medicine, The Royal Melbourne Hospital, 300, Grattan Street, Parkville, VIC, 3050, Australia. .; Department of Medicine, University of Melbourne, Parkville, VIC, 3010, Australia. .
Walsh M; Department of Genomic Medicine, The Royal Melbourne Hospital, 300, Grattan Street, Parkville, VIC, 3050, Australia.
Rajagopalan B; Ballarat, VIC, 3350, Australia.
Finlay M; Department of Pathology, The Royal Melbourne Hospital, Parkville, VIC, 3050, Australia.
Trainer AH; Department of Genomic Medicine, The Royal Melbourne Hospital, 300, Grattan Street, Parkville, VIC, 3050, Australia.; Department of Medicine, University of Melbourne, Parkville, VIC, 3010, Australia.
Bonnet F; Laboratoire de Génétique Moléculaire, Institut Bergonie, 229, Coursde l'argonne, C561285, 33076, Bordeaux Cedex, France.
Sevenet N; Laboratoire de Génétique Moléculaire, Institut Bergonie, 229, Coursde l'argonne, C561285, 33076, Bordeaux Cedex, France.; Faculty of Pharmacy, University of Bordeaux, 146, rue Leo Saignat, 33076, Bordeaux Cedex, France.
Winship IM; Department of Genomic Medicine, The Royal Melbourne Hospital, 300, Grattan Street, Parkville, VIC, 3050, Australia.; Department of Medicine, University of Melbourne, Parkville, VIC, 3010, Australia.
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Źródło :
Familial cancer [Fam Cancer] 2018 Oct; Vol. 17 (4), pp. 601-606.
Typ publikacji :
Journal Article
MeSH Terms :
Mutation*
Carcinoma, Basal Cell/*genetics
Patched-1 Receptor/*genetics
Repressor Proteins/*genetics
Basal Cell Nevus Syndrome/genetics ; Carcinoma, Basal Cell/pathology ; Female ; Fibroma/genetics ; Fibroma/pathology ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Pedigree ; RNA Splice Sites ; Skin Neoplasms/genetics ; Skin Neoplasms/pathology
SCR Disease Name :
Basal cell carcinoma, infundibulocystic
Czasopismo naukowe
Tytuł :
Severe PATCHED1 Deficiency in Cancer-Prone Gorlin Patient Cells Results in Intrinsic Radiosensitivity.
Autorzy :
Vulin A; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Sedkaoui M; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Moratille S; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Sevenet N; Molecular Genetics Laboratory, Institut Bergonié/INSERM U1218, Université de Bordeaux, Bordeaux cedex, France.
Soularue P; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Rigaud O; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Guibbal L; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France.
Dulong J; Laboratory of Tissue Biology and Therapeutic Engineering, UMR5305 CNRS - Université Lyon I, Lyon Cedex 07, France.
Jeggo P; Genome Damage and Stability Centre, University of Sussex, Brighton, United Kingdom.
Deleuze JF; CNRGH, Genome Institute, CEA, DRF/IFJ, Evry, France.
Lamartine J; Laboratory of Tissue Biology and Therapeutic Engineering, UMR5305 CNRS - Université Lyon I, Lyon Cedex 07, France.
Martin MT; Laboratory of Genomics and Radiobiology of Keratinopoiesis, CEA, DRF/IFJ/iRCM, INSERM/UMR967, Université Paris-Diderot, Université Paris-Saclay, Evry, France. Electronic address: .
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Źródło :
International journal of radiation oncology, biology, physics [Int J Radiat Oncol Biol Phys] 2018 Oct 01; Vol. 102 (2), pp. 417-425. Date of Electronic Publication: 2018 Jun 02.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Basal Cell Nevus Syndrome/*genetics
Cancer-Associated Fibroblasts/*radiation effects
Patched-1 Receptor/*deficiency
Radiation Tolerance/*genetics
Adult ; Cell Survival/radiation effects ; DNA Damage/genetics ; DNA Repair/genetics ; Female ; Histones/genetics ; Humans ; Male ; Middle Aged ; Patched-1 Receptor/genetics ; Tumor Suppressor p53-Binding Protein 1/genetics
Czasopismo naukowe
Tytuł :
Corrigendum: Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Gac GL; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Caux-Moncoutier V; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
Caputo SM; Service de Génétique, Institut Curie, 75005 Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Guillaud-Bataille M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Rouleau E; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Paillerets BB; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
Revillon F; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Rousselin A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Davy G; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castelain G; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castéra L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Sokolowska J; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Coulet F; Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
Delnatte C; Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.
Férec C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Houdayer C; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2018 Nov 30; Vol. 46 (21), pp. 11656-11657.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Engineering Genetic Predisposition in Human Neuroepithelial Stem Cells Recapitulates Medulloblastoma Tumorigenesis.
Autorzy :
Huang M; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Tailor J; Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK; Institute of Cancer Research, Sutton, London SM2 5NG, UK; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada.
Zhen Q; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Gillmor AH; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada; Charbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Calgary, AB, Canada.
Miller ML; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Weishaupt H; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
Chen J; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Zheng T; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Nash EK; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
McHenry LK; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
An Z; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Ye F; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Takashima Y; Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Clarke J; Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Ayetey H; Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Cavalli FMG; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Luu B; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Moriarity BS; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA; Center for Genome Engineering, University of Minnesota, Minneapolis, MN 55455, USA; Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.
Ilkhanizadeh S; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA.
Chavez L; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Yu C; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.
Kurian KM; Institute of Clinical Neurosciences, Level 1, Learning and Research Building, Southmead Hospital, University of Bristol, Bristol BS10 5NB, UK.
Magnaldo T; Institute for Research on Cancer and Aging, Nice UMR CNRS 7284 INSERM U1081 UNS/UCA, Nice, France.
Sevenet N; Institut Bergonie & INSERM U1218, Universite de Bordeaux, 229 cours de l'Argonne, 33076 Bordeaux Cedex, France.
Koch P; Central Institute of Mental Health, University of Heidelberg/Medical Faculty Mannheim and Hector Institut for Translational Brain Research (HITBR gGmbH), Mannheim, Germany; German Cancer Research Center (DKFZ), Heidelberg, Germany.
Pollard SM; MRC Centre for Regenerative Medicine and Cancer Research UK Edinburgh Centre, University of Edinburgh, Edinburgh, UK.
Dirks P; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Snyder MP; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA.
Largaespada DA; Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA; Center for Genome Engineering, University of Minnesota, Minneapolis, MN 55455, USA; Masonic Cancer Center, University of Minnesota, Minneapolis, MN 55455, USA.
Cho YJ; Division of Pediatric Neurology, Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA; Papé Family Pediatric Research Institute, Department of Pediatrics, Oregon Health & Science University, Portland, OR, USA; Knight Cancer Institute, Oregon Health & Science University, Portland, OR, USA.
Phillips JJ; Departments of Neurological Surgery and Pathology, University of California, San Francisco, CA 94158, USA.
Swartling FJ; Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden.
Morrissy AS; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, AB, Canada; Charbonneau Cancer Institute, University of Calgary, Calgary, AB, Canada; Alberta Children's Hospital Research Institute, Calgary, AB, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada.
Kool M; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany.
Pfister SM; Hopp-Children's Cancer Center (KiTZ), Heidelberg, Germany; Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany; Department of Pediatric Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Taylor MD; Developmental & Stem Cell Biology Program, The Hospital for Sick Children, Toronto, ON, Canada; Division of Neurosurgery, The Hospital for Sick Children, Toronto, ON, Canada; The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada; Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, ON, Canada.
Smith A; Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Tennis Court Road, Cambridge CB2 1QR, UK.
Weiss WA; Department of Neurology and the Helen Diller Family Comprehensive Cancer Center, University of California, San Francisco, San Francisco, CA 94158, USA; Departments of Pediatrics, Neurosurgery and Brain Tumor Research Center, University of California, San Francisco, San Francisco, CA 94158, USA. Electronic address: .
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Źródło :
Cell stem cell [Cell Stem Cell] 2019 Sep 05; Vol. 25 (3), pp. 433-446.e7. Date of Electronic Publication: 2019 Jun 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Basal Cell Nevus Syndrome/*genetics
Brain Neoplasms/*genetics
Medulloblastoma/*genetics
N-Myc Proto-Oncogene Protein/*metabolism
Neural Stem Cells/*physiology
Neuroepithelial Cells/*physiology
Pluripotent Stem Cells/*physiology
Animals ; Basal Cell Nevus Syndrome/metabolism ; Basal Cell Nevus Syndrome/pathology ; Brain Neoplasms/metabolism ; Brain Neoplasms/pathology ; Carcinogenesis/genetics ; DEAD-box RNA Helicases/genetics ; Disease Models, Animal ; Genetic Engineering ; Genetic Predisposition to Disease ; Humans ; Medulloblastoma/metabolism ; Medulloblastoma/pathology ; Mice ; Mice, SCID ; N-Myc Proto-Oncogene Protein/genetics ; Neoplasm Proteins/genetics ; Patched-1 Receptor/genetics ; Stem Cell Transplantation ; Transplantation, Heterologous
Czasopismo naukowe
Tytuł :
Assessment of branch point prediction tools to predict physiological branch points and their alteration by variants.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France. .; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France. .; Université Caen-Normandie, Caen, France. .
Tubeuf H; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.; Interactive Biosoftware, Rouen, France.
Raad S; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Tournier I; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Derambure C; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Lanos R; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Gaildrat P; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Castelain G; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Hauchard J; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Killian A; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Baert-Desurmont S; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Legros A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Goardon N; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Quesnelle C; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Ricou A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Castera L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Vaur D; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Le Gac G; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, Brest, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, Bordeaux, France.
Guillaud-Bataille M; Service de Génétique, Institut Gustave Roussy, Villejuif, France.
Boutry-Kryza N; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, Lyon, France.
Schultz I; Laboratoire d'Oncogénétique, Centre Paul Strauss, Strasbourg, France.
Caux-Moncoutier V; Service de Génétique, Institut Curie, Paris, France.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
Walker LC; Department of Pathology and Biomedical Science, University of Otago, Christchurch, New Zealand.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Herston, Queensland, Australia.
Houdayer C; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Martins A; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France. .; Inserm U1245, Normandy Center for Genomic and Personalized Medicine, Rouen, UNIROUEN, Normandy University, Caen, France. .; Université Caen-Normandie, Caen, France. .; Present address: Laboratoire de biologie et génétique des cancers, Centre François Baclesse, Caen, France. .
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Źródło :
BMC genomics [BMC Genomics] 2020 Jan 28; Vol. 21 (1), pp. 86. Date of Electronic Publication: 2020 Jan 28.
Typ publikacji :
Journal Article
MeSH Terms :
Introns*
RNA Precursors*
RNA Splice Sites*
RNA Splicing*
Alternative Splicing ; Computational Biology/methods ; Humans ; Nucleotide Motifs ; Position-Specific Scoring Matrices ; RNA Processing, Post-Transcriptional ; ROC Curve ; Reproducibility of Results
Czasopismo naukowe
Tytuł :
Novel diagnostic tool for prediction of variant spliceogenicity derived from a set of 395 combined in silico/in vitro studies: an international collaborative effort.
Autorzy :
Leman R; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Gaildrat P; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Le Gac G; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Ka C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Fichou Y; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Audrezet MP; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Caux-Moncoutier V; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
Caputo SM; Service de Génétique, Institut Curie, 75005 Paris, France.
Boutry-Kryza N; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Léone M; Unité Mixte de Génétique Constitutionnelle des Cancers Fréquents, Hospices Civils de Lyon, 69000 Lyon, France.
Mazoyer S; Lyon Neuroscience Research Center-CRNL, Inserm U1028, CNRS UMR 5292, University of Lyon, 69008 Lyon, France.
Bonnet-Dorion F; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Sevenet N; Inserm U916, Département de Pathologie, Laboratoire de Génétique Constitutionnelle, Institut Bergonié, 33000 Bordeaux, France.
Guillaud-Bataille M; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Rouleau E; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Bressac-de Paillerets B; Gustave Roussy, Université Paris-Saclay, Département de Biopathologie, 94805 Villejuif, France.
Wappenschmidt B; Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, University Hospital of Cologne, 50937 Cologne, Germany.
Rossing M; Centre for Genomic Medicine, Rigshospitalet, University of Copenhagen, 1017 Copenhagen, Denmark.
Muller D; Laboratoire d'Oncogénétique, Centre Paul Strauss, 67000 Strasbourg, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Institut Paoli-Calmettes, 13009 Marseille, France.
Revillon F; Laboratoire d'Oncogénétique Moléculaire Humaine, Centre Oscar Lambret, 59000 Lille, France.
Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Rousselin A; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Davy G; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castelain G; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Castéra L; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Sokolowska J; Service de Génétique, CHU Nancy, 54035 Nancy, France.
Coulet F; Service de génétique, Hôpital Pitié Salpétrière, AP-HP, 75013 Paris, France.
Delnatte C; Laboratoire de génétique moléculaire, CHU Nantes, 44000 Nantes, France.
Férec C; Inserm UMR1078, Genetics, Functional Genomics and Biotechnology, Université de Bretagne Occidentale, 29200 Brest, France.
Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, 4006 Herston, Queensland, Australia.
Martins A; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.
Krieger S; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, 14000 Caen, France.; Inserm U1245 Genomics and Personalized Medecine in Cancer and Neurological Disorders, Normandie Univ, UNIROUEN, Normandy Centre for Genomic and Personalized Medicine, 76031 Rouen, France.; Normandie Univ, UNICAEN, 14000 Caen, France.
Houdayer C; Inserm U830, Institut Curie Centre de Recherches, 75005 Paris, France.; Université Paris Descartes, Sorbonne Paris Cité, 75005 Paris, France.; Service de Génétique, Institut Curie, 75005 Paris, France.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2020 Feb 20; Vol. 48 (3), pp. 1600-1601.
Typ publikacji :
Journal Article; Published Erratum
Czasopismo naukowe
Tytuł :
Dramatic response to PARP inhibition in a PALB2-mutated breast cancer: moving beyond BRCA.
Autorzy :
Grellety T; Early Phase Trials Unit, Institut Bergonié, Bordeaux, France; Medical Oncology Department, Centre Hospitalier de la Côte Basque, Bayonne, France.
Peyraud F; Early Phase Trials Unit, Institut Bergonié, Bordeaux, France; Faculty of Medicine, University of Bordeaux, Bordeaux, France.
Sevenet N; Biopathology Department, Institut Bergonié, Bordeaux, France.
Tredan O; Department of Medicine, Centre Léon Bérard, Lyon, France.
Dohollou N; Department of Medical Oncology, Polyclinique Bordeaux Nord, Bordeaux, France.
Barouk-Simonet E; Biopathology Department, Institut Bergonié, Bordeaux, France; Cancer Genetics Department, Centre Hospitalier de la Côte Basque, Bayonne, France.
Kind M; Department of Imaging, Institut Bergonié, Bordeaux, France.
Longy M; Biopathology Department, Institut Bergonié, Bordeaux, France.
Blay JY; Department of Medicine, Centre Léon Bérard, Lyon, France.
Italiano A; Early Phase Trials Unit, Institut Bergonié, Bordeaux, France; Faculty of Medicine, University of Bordeaux, Bordeaux, France. Electronic address: .
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Źródło :
Annals of oncology : official journal of the European Society for Medical Oncology [Ann Oncol] 2020 Jun; Vol. 31 (6), pp. 822-823. Date of Electronic Publication: 2020 Mar 17.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Breast Neoplasms*/drug therapy
Breast Neoplasms*/genetics
Poly(ADP-ribose) Polymerase Inhibitors*/therapeutic use
BRCA1 Protein/genetics ; BRCA2 Protein/genetics ; Fanconi Anemia Complementation Group N Protein/genetics ; Humans
Raport
Tytuł :
Prostate cancer and PARP inhibitors: progress and challenges.
Autorzy :
Teyssonneau D; Department of Medical Oncology, Institut Bergonie, Bordeaux, France. .
Margot H; Department of Genetic, Institut Bergonie, Bordeaux, France.
Cabart M; Department of Medical Oncology, Institut Bergonie, Bordeaux, France.
Anonnay M; Department of Medical Oncology, Institut Bergonie, Bordeaux, France.
Sargos P; Department of Radiotherapy, Institut Bergonie, Bordeaux, France.
Vuong NS; Department of Urology, Clinique Saint-Augustin, Bordeaux, France.
Soubeyran I; Department of Biopathology, Institut Bergonie, Bordeaux, France.
Sevenet N; Department of Genetic, Institut Bergonie, Bordeaux, France.
Roubaud G; Department of Medical Oncology, Institut Bergonie, Bordeaux, France.
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Źródło :
Journal of hematology & oncology [J Hematol Oncol] 2021 Mar 29; Vol. 14 (1), pp. 51. Date of Electronic Publication: 2021 Mar 29.
Typ publikacji :
Journal Article; Review
MeSH Terms :
DNA Repair/*genetics
Poly(ADP-ribose) Polymerase Inhibitors/*therapeutic use
Prostatic Neoplasms, Castration-Resistant/*drug therapy
Humans ; Male ; Poly(ADP-ribose) Polymerase Inhibitors/pharmacology ; Prostatic Neoplasms, Castration-Resistant/mortality ; Survival Analysis
Czasopismo naukowe
Tytuł :
5' Region Large Genomic Rearrangements in the BRCA1 Gene in French Families: Identification of a Tandem Triplication and Nine Distinct Deletions with Five Recurrent Breakpoints.
Autorzy :
Caputo SM; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, PSL Research University, F-75005 Paris, France.
Telly D; Laboratoire d'Oncogénétique, Institut Claudius Regaud, IUCT-O, F-31059 Toulouse, France.
Briaux A; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, PSL Research University, F-75005 Paris, France.
Sesen J; Department of Neurosurgery, Boston Children's Hospital, Boston, MA 02115, USA.
Ceppi M; Roche Innovation Center Basel (RICB), Roche Pharma Research and Early Development, CH-4052 Basel, Switzerland.
Bonnet F; Laboratoire de Génétique Constitutionnelle et INSERM U916 VINCO, Institut Bergonié, CEDEX, F-33076 Bordeaux, France.
Bourdon V; Laboratoire d'Oncogénétique Moléculaire, Département de Biologie du Cancer, Institut Paoli-Calmettes, F-13273 Marseille, France.
Coulet F; Department of Genetics, Pitié-Salpêtriere Hospital, Assistance Publique-Hopitaux de Paris, Sorbonne University, F-75013 Paris, France.
Castera L; Laboratoire de Biologie et de Génétique du Cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, F-14076 Caen, France.
Delnatte C; Service de Génétique Médicale, Unité de Génétique Moléculaire, CHU Nantes, F-44093 Nantes, France.
Hardouin A; Laboratoire de Biologie et de Génétique du Cancer, CLCC François Baclesse, INSERM 1079 Centre Normand de Génomique et de Médecine Personnalisée, F-14076 Caen, France.
Mazoyer S; Centre de Recherche en Neurosciences de Lyon, INSERM, U1028, CNRS, UMR5292, Université de Lyon, F-69008 Lyon, France.
Schultz I; Centre Paul Strauss, Laboratoire de Biologie Tumorale-Oncogénétique, F-67000 Strasbourg, France.
Sevenet N; Laboratoire de Génétique Constitutionnelle et INSERM U916 VINCO, Institut Bergonié, CEDEX, F-33076 Bordeaux, France.
Uhrhammer N; Biologie Clinique et Oncologique, Biologie Moléculaire-Centre Jean Perrin, F-63000 Clermont-Ferrand, France.
Bonnet C; Institut de Cancérologie, 6 Avenue de Bourgogne, F-54519 Vandœuvre-lès-Nancy, France.
Tilkin-Mariamé AF; Cancer Research Center of Toulouse (CRCT), Institut National de la Santé et de la Recherche Médicale (INSERM) UMR 1037, F-31000 Toulouse, France.
Houdayer C; Inserm U1245, UNIROUEN, Normandie University, Normandy Centre for Genomic and Personalized Medicine, F-76183 Rouen, France.; Normandy Centre for Genomic and 41 Personalized Medicine, Department of Genetics, University Hospital, F-76183 Rouen, France.
Moncoutier V; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, PSL Research University, F-75005 Paris, France.
Andrieu C; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, PSL Research University, F-75005 Paris, France.
French Covar Group Collaborators
Bièche I; Department of Genetics, Institut Curie, F-75248 Paris, France.; Faculty of Pharmaceutical and Biological Sciences, University of Paris, F-75006 Paris, France.
Stern MH; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), PSL Research University, F-75005 Paris, France.
Stoppa-Lyonnet D; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), PSL Research University, F-75005 Paris, France.; Faculty of Medicine, University of Paris, F-75005 Paris, France.
Lidereau R; Department of Genetics, Institut Curie, F-75248 Paris, France.; Institut Curie, PSL Research University, F-75005 Paris, France.
Toulas C; Laboratoire d'Oncogénétique, Institut Claudius Regaud, IUCT-O, F-31059 Toulouse, France.
Rouleau E; Department of Biology, Gustave Roussy, Université Paris-Saclay, F-94805 Villejuif, France.
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Źródło :
Cancers [Cancers (Basel)] 2021 Jun 25; Vol. 13 (13). Date of Electronic Publication: 2021 Jun 25.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Concordance Between Tumor and Germline BRCA Status in High-Grade Ovarian Carcinoma Patients in the Phase III PAOLA-1/ENGOT-ov25 Trial.
Autorzy :
Callens C; Genetics Department, Institut Curie and Paris Sciences Lettres University, Paris, France.
Vaur D; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Soubeyran I; Biopathology Department, Institut Bergonié, Bordeaux, France.
Rouleau E; Biopathology Department, Institut Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Just PA; Department of Pathological Anatomy and Cytology, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France, Genetics Department, Hôpital Universitaire Pitié-Salpétrière, Assistance Publique - Hôpitaux de Paris, Paris, France.
Guillerm E; Department of Pathological Anatomy and Cytology, Hôpital Cochin, Assistance Publique - Hôpitaux de Paris, Paris, France, Genetics Department, Hôpital Universitaire Pitié-Salpétrière, Assistance Publique - Hôpitaux de Paris, Paris, France.
Golmard L; Genetics Department, Institut Curie and Paris Sciences Lettres University, Paris, France.
Goardon N; Laboratoire de Biologie Clinique et Oncologique, Centre François Baclesse, Caen, France.
Sevenet N; Biopathology Department, Institut Bergonié, Bordeaux, France.
Cabaret O; Biopathology Department, Institut Gustave Roussy, Université Paris-Saclay, Villejuif, France.
Harter P; Obstetric and Gynecologic Department, Kliniken Essen Mitte, Essen, AGO De, Germany.
Gonzalez-Martin A; Oncology Department, Clínica Universidad de Navarra, Madrid, formerly MD Anderson Cancer Center, Madrid, GEICO, Spain.
Fujiwara K; Gynecologic Oncologic Department, Saitama Medical University, Saitama, GOTIC, Japan.
Cecere SC; Department of Urology and Gynecology, Istituto Nazionale Tumori IRCCS Fondazione G. Pascale, Napoli, Mito Italy.
Colombo N; Gynecology Oncology Division, European Institute of Oncology, Milan, Mango Italy.
Marth C; Obstetric and Gynecologic Department, Medical University of Innsbruck, AGO Au, Austria.
Vergote I; Gynecologic Oncologic Department, University Hospital Leuven, Department of Gynecologic oncology, Leuven Cancer Institute, Leuven, BGOG, Belgium.
Maenpaa J; Gynecologic Oncologic Department, Tampere University and University Hospital Cancer Centre, Tampere, NSGO, Finland.
Pujade-Lauraine E; ARCAGY Research, Paris, France.
Ray-Coquard I; Medical Oncology Department, Centre Léon Bérard and University, Claude Bernard Lyon 1, Lyon, GINECO, France.
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Źródło :
Journal of the National Cancer Institute [J Natl Cancer Inst] 2021 Jul 01; Vol. 113 (7), pp. 917-923.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.
Autorzy :
Lesueur F; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Eon-Marchais S; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Bonnet-Boissinot S; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Beauvallet J; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Dondon MG; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Golmard L; Service de Génétique, Institut Curie, F-75005 Paris, France.
Rouleau E; Service de Génétique, Département de Biologie et Pathologie Médicales, Gustave Roussy, F-94805 Villejuif, France.
Garrec C; Laboratoire Génétique Moléculaire, Institut de Biologie, CHU Hôtel Dieu, F-44093 Nantes, France.
Martinez M; Unité de Génétique Clinique, CHU Rouen Normandie, F-76100 Rouen, France.
Toulas C; Laboratoire d'Oncogénétique, Institut Claudius Regaud, IUCT-Oncopole, F-31100 Toulouse, France.
Nguyen TD; Institut de Cancérologie Jean Godinot, F-51100 Reims, France.
Brayotel F; Institut de Cancérologie Jean Godinot, F-51100 Reims, France.
Crivelli L; Service d'Oncogénétique, Centre Eugène Marquis, F-35000 Rennes, France.
Maugard CM; Centre Paul Strauss, Unité d'Oncogénétique, ICANS Institut de Cancérologie de Strasbourg, F-67200 Strasbourg, France.
Bubien V; Unité d'Oncogénétique, Département de Bio-Pathologie, Institut Bergonié, F-33000 Bordeaux, France.
Sevenet N; Institut Bergonié, UFR des Sciences Pharmaceutiques, Collège des Sciences de la Santé Université de Bordeaux, INSERM U1218, F-33000 Bordeaux, France.
Gesta P; CH Georges Renon, Service d'Oncogénétique Régional Poitou-Charentes, F-79000 Niort, France.
Chieze-Valero S; CH Georges Renon, Service d'Oncogénétique Régional Poitou-Charentes, F-79000 Niort, France.
Nambot S; Institut GIMI, CHU de Dijon, Hôpital d'Enfants, F-21000 Dijon, France.
Goussot V; Unité de Biologie Moléculaire, Département de Biologie et Pathologie des Tumeurs, Centre Georges François Leclerc, F-21000 Dijon, France.
Mari V; Service d'Oncogénétique et Recherche Clinique, Centre Antoine Lacassagne, F-06100 Nice, France.
Popovici C; Département d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, F-13009 Marseille, France.
Prieur F; Service de Génétique, CHU-Hôpital Nord, F-42055 Saint Etienne, France.
Morin-Meschin ME; Service d'Oncogénétique, Institut de Cancérologie de l'Ouest, Site Paul Papin, F-49055 Angers, France.
Tinat J; Génétique Médicale, CHU de Bordeaux, F-33000 Bordeaux, France.
Lortholary A; Service d'Oncologie Médicale, Centre Catherine de Sienne, Hôpital Privé du Confluent, F-44200 Nantes, France.
Dreyfus H; Clinique Sainte Catherine, F-84000 Avignon, France.; Département de Génétique, Hôpital Couple-Enfant, CHU de Grenoble, F-38700 Grenoble, France.
Bidart M; Laboratoire de Génétique Moléculaire: Maladies Rares et Oncologies, Institut de Biologie et Pathologie, CHU Grenoble Alpes, F-38700 Grenoble, France.
Collonge-Rame MA; Consultation d'Oncogénétique, Oncobiologie Génétique Bioinformatique, CHRU, F-25000 Besançon, France.
Mozelle-Nivoix M; Centre Hospitalier de Troyes, Hôpital S. Veil, F-10000 Troyes, France.
Gladieff L; Service d'Oncologie Médicale, Institut Claudius Regaud-IUCT-Oncopole, F-31100 Toulouse, France.
Giraud S; Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier EST, F-69500 Bron, France.
Boutry-Kryza N; Hospices Civils de Lyon, Service de Génétique, Groupement Hospitalier EST, F-69500 Bron, France.
Chiesa J; UF de Cytogénétique et Génétique Médicale, CHRU Hôpital Caremeau, F-30900 Nîmes, France.
Denizeau P; Service de Génétique Clinique, Hôpital Sud, F-35200 Rennes, France.
Bignon YJ; Centre Jean Perrin, Département d'Oncogénétique, Université Clermont Auvergne, UMR INSERM 1240, F-63011 Clermont Ferrand, France.
Uhrhammer N; Centre Jean Perrin, LBM OncoGenAuvergne, F-63011 Clermont Ferrand, France.
Cohen-Haguenauer O; Unité d'Oncogénétique Clinique AP-HP Nord-UP, DMU Icare, UFR de Médecine de l'Université de Paris, INSERM UMR-S 976, Hôpital Saint-Louis, F-75010 Paris, France.
Vilquin P; Département de Génomique des Tumeurs Solides, Hôpital Saint-Louis, APHP, F-75010 Paris, France.
Mailliez A; Centre Oscar Lambret, F-59000 Lille, France.
Coupier I; Service de Génétique Médicale et Oncogénétique, Hôpital Arnaud de Villeneuve, CHU Montpellier, F-34090 Montpellier, France.; INSERM 896, CRCM Val d'Aurelle, F-34090 Montpellier, France.
Rey JM; Laboratoire de Biopathologie Cellulaire et Tissulaire des Tumeurs, CHRU Arnaud de Villeneuve, F-34090 Montpellier, France.
Lacaze E; Unité de Génétique Médicale, Groupe Hospitalier du Havre, F-76290 Le Havre, France.
Béra O; CHU de Martinique, F-97261 Fort-de-France, France.
Colas C; Service de Génétique, Institut Curie, F-75005 Paris, France.
Coulet F; Service de Génétique, AP-HP, Hôpital Universitaire Pitié-Salpétrière, F-75013 Paris, France.
Delnatte C; Unité d'Oncogénétique, ICO-Site René Gauducheau, F-44800 Nantes Saint Herblain, France.
Houdayer C; Département de Génétique, Hôpital Universitaire de Rouen, Unirouen, Inserm U1245, F-76000 Rouen, France.
Lasset C; CNRS UMR 5558, Université Claude Bernard Lyon 1, F-69100 Villeurbanne, France.; Centre Léon Bérard, Unité de Prévention et Epidémiologie Génétique, F-69008 Lyon, France.
Lemonnier J; R&D UNICANCER, Fédération Nationale des Centres de Lutte Contre le Cancer, F-75013 Paris, France.
Longy M; Cancer Genetics Unit & INSERM U1218, Institut Bergonié, University of Bordeaux, F-33000 Bordeaux, France.
Noguès C; Département d'Anticipation et de Suivi des Cancers, Oncogénétique Clinique, Institut Paoli-Calmettes, F-13009 Marseille, France.; Institut Paoli-Calmettes & Aix Marseille University, INSERM, IRD, SESSTIM, F-13009 Marseille, France.
Stoppa-Lyonnet D; Service de Génétique, Institut Curie, F-75005 Paris, France.; Inserm, U830, Université de Paris, F-75005 Paris, France.
Vaur D; Laboratoire de Biologie et de Génétique du Cancer, Centre François Baclesse, F-14000 Caen, France.
Andrieu N; Inserm, U900, Institut Curie, PSL Research University, Mines ParisTech, F-75005 Paris, France.
Caron O; Département de Médecine Oncologique, Gustave Roussy, F-94805 Villejuif, France.; Centre Médical de Bligny, F-91640 Briis-Sous-Forges, France.
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Źródło :
Cancers [Cancers (Basel)] 2021 Jul 21; Vol. 13 (15). Date of Electronic Publication: 2021 Jul 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
    Wyświetlanie 1-95 z 95

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