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Wyświetlanie 1-8 z 8
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 :
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 :
[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 :
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 :
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
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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 :
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 :
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
    Wyświetlanie 1-8 z 8

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