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Tytuł :
Familial Predisposition and Genetic Risk Factors Associated with Pancreatic Cancer.
Autorzy :
Rustgi SD; Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA.
Hilfrank KJ; Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA.
Kastrinos F; Division of Digestive & Liver Diseases, Columbia University Irving Medical Center, 630 West 168th Street, Box 83, Room P&S 3-401, New York, NY 10032, USA. Electronic address: .
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Źródło :
Gastrointestinal endoscopy clinics of North America [Gastrointest Endosc Clin N Am] 2022 Jan; Vol. 32 (1), pp. 1-12.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Germ-Line Mutation*
Pancreatic Neoplasms*/genetics
Genetic Predisposition to Disease ; Genetic Testing ; Humans ; Risk Factors
Czasopismo naukowe
Tytuł :
Brief Report: Role of Parent-Reported Executive Functioning and Anxiety in Insistence on Sameness in Individuals with Germline PTEN Mutations.
Autorzy :
Uljarević M; Faculty of Medicine, Dentistry, and Health Sciences, Melbourne School of Psychological Sciences, The University of Melbourne, Victoria, Australia. .; La Trobe University, Bundoora, VIC, 3086, Australia. .
Frazier TW; Department of Psychology, John Carroll University, University Heights, OH, USA.
Rached G; Université Saint Joseph, Beirut, Lebanon.
Busch RM; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Klaas P; Department of Neurology, Neurological Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Srivastava S; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Martinez-Agosto JA; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.; Division of Medical Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
Sahin M; Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Eng C; Genomic Medicine Institute, Lerner Research Institute, Cleveland Clinic, Cleveland, OH, 44195, USA.
Hardan AY; Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, CA, USA.
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Corporate Authors :
Developmental Synaptopathies Consortium
Źródło :
Journal of autism and developmental disorders [J Autism Dev Disord] 2022 Jan; Vol. 52 (1), pp. 414-422. Date of Electronic Publication: 2021 Feb 17.
Typ publikacji :
Journal Article
MeSH Terms :
Autism Spectrum Disorder*/genetics
Germ-Line Mutation*
Anxiety/genetics ; Child ; Child, Preschool ; Germ Cells ; Humans ; PTEN Phosphohydrolase/genetics ; Parents
Czasopismo naukowe
Tytuł :
Endometrial cancer in Lynch syndrome.
Autorzy :
Zhao S; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Chen L; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Zang Y; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Liu W; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Liu S; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Teng F; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Xue F; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
Wang Y; Department of Gynecology and Obstetrics, Tianjin Medical University General Hospital, Tianjin, China.; Tianjin Key Laboratory of Female Reproductive Health and Eugenics, Tianjin Medical University General Hospital, Tianjin, China.
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Źródło :
International journal of cancer [Int J Cancer] 2022 Jan 01; Vol. 150 (1), pp. 7-17. Date of Electronic Publication: 2021 Sep 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Germ-Line Mutation*
Microsatellite Instability*
Colorectal Neoplasms, Hereditary Nonpolyposis/*complications
DNA Repair Enzymes/*genetics
Endometrial Neoplasms/*pathology
DNA Repair Enzymes/metabolism ; Endometrial Neoplasms/drug therapy ; Endometrial Neoplasms/etiology ; Endometrial Neoplasms/metabolism ; Female ; Humans
Czasopismo naukowe
Tytuł :
Germline Pathogenic Variants in Cancer Predisposition Genes Among Women With Invasive Lobular Carcinoma of the Breast.
Autorzy :
Yadav S; Mayo Clinic, Rochester, MN.
Hu C; Mayo Clinic, Rochester, MN.
Nathanson KL; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Weitzel JN; Latin American School of Oncology, Sierra Madre, CA.
Goldgar DE; University of Utah, Salt Lake City, UT.
Kraft P; Harvard University T.H. Chan School of Public Health, Boston, MA.
Gnanaolivu RD; Mayo Clinic, Rochester, MN.
Na J; Mayo Clinic, Rochester, MN.
Huang H; Harvard University T.H. Chan School of Public Health, Boston, MA.
Boddicker NJ; Mayo Clinic, Rochester, MN.
Larson N; Mayo Clinic, Rochester, MN.
Gao C; Harvard University T.H. Chan School of Public Health, Boston, MA.
Yao S; Roswell Park Comprehensive Cancer Center, Buffalo, NY.
Weinberg C; NIEHS, Durham, NC.
Vachon CM; Mayo Clinic, Rochester, MN.
Trentham-Dietz A; University of Wisconsin-Madison, Madison, WI.
Taylor JA; NIEHS, Durham, NC.
Sandler DR; NIEHS, Durham, NC.
Patel A; Behavioral and Epidemiology Research Group, American Cancer Society, Atlanta, GA.
Palmer JR; Slone Epidemiology Center, Boston University, Boston, MA.
Olson JE; Mayo Clinic, Rochester, MN.
Neuhausen S; Beckman Research Institute of City of Hope, Duarte, CA.
Martinez E; University of California, San Diego, CA.
Lindstrom S; Fred Hutchinson Cancer Research Center, Seattle, WA.
Lacey JV; Beckman Research Institute of City of Hope, Duarte, CA.
Kurian AW; Stanford University School of Medicine, Stanford, CA.
John EM; Stanford University School of Medicine, Stanford, CA.
Haiman C; Keck School of Medicine, University of Southern California, Los Angeles, CA.
Bernstein L; Beckman Research Institute of City of Hope, Duarte, CA.
Auer PW; UWM Joseph J. Zilber School of Public Health, Milwaukee, WI.
Anton-Culver H; University of California, Irvine, CA.
Ambrosone CB; Roswell Park Comprehensive Cancer Center, Buffalo, NY.
Karam R; Ambry Genetics Inc, Aliso Viejo, CA.
Chao E; Ambry Genetics Inc, Aliso Viejo, CA.
Yussuf A; Ambry Genetics Inc, Aliso Viejo, CA.
Pesaran T; Ambry Genetics Inc, Aliso Viejo, CA.
Dolinsky JS; Ambry Genetics Inc, Aliso Viejo, CA.
Hart SN; Mayo Clinic, Rochester, MN.
LaDuca H; Ambry Genetics Inc, Aliso Viejo, CA.
Polley EC; Mayo Clinic, Rochester, MN.
Domchek SM; Department of Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.; Basser Center for BRCA, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.
Couch FJ; Mayo Clinic, Rochester, MN.
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Źródło :
Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2021 Dec 10; Vol. 39 (35), pp. 3918-3926. Date of Electronic Publication: 2021 Oct 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Germ-Line Mutation*
Biomarkers, Tumor/*genetics
Breast Neoplasms/*pathology
Carcinoma, Ductal, Breast/*pathology
Carcinoma, Lobular/*pathology
Genetic Testing/*methods
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Breast Neoplasms/genetics ; Carcinoma, Ductal, Breast/genetics ; Carcinoma, Lobular/genetics ; Case-Control Studies ; Female ; Follow-Up Studies ; Humans ; Middle Aged ; Prognosis ; Young Adult
Czasopismo naukowe
Tytuł :
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Autorzy :
Kozyra EJ; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.; Faculty of Biology, University of Freiburg, Freiburg, Germany.
Göhring G; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Hickstein DD; Immune Deficiency-Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, MD.
Calvo KR; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD.
DiNardo CD; Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX.
Dworzak M; St. Anna Childreńs Hospital and Cancer Research Institute, Pediatric Clinic, Medical University of Vienna, Vienna, Austria.
de Haas V; Dutch Childhood Oncology Group (DCOG), Utrecht, The Netherlands.
Starý J; Department of Pediatric Hematology and Oncology, Charles University and University Hospital Motol, Prague, Czech Republic.
Hasle H; Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
Shimamura A; Dana-Farber and Boston Children's Cancer and Blood Disorders Center, Boston, MA.
Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, MA.
Inaba H; Department of Oncology and.
Lewis S; Department of Hematology, St Jude Children's Research Hospital, Memphis, TN.
Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
Arnold DE; Immune Deficiency-Cellular Therapy Program, Center for Cancer Research, National Cancer Institute, Bethesda, MD.
Mecucci C; Department of Medicine, Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
Keel SB; Department of Medicine, Division of Hematology, University of Washington, Seattle, WA.
Bertuch AA; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX.
Tawana K; Department of Haematology, Addenbrooke's Hospital, Cambridge, United Kingdom.
Barzilai S; Pediatric Hematology and Oncology, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Israel.
Hirabayashi S; Department of Pediatrics and.
Onozawa M; Department of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Sapporo, Japan.
Lei S; Department of Computational Biology, St Jude Children's Research Hospital, Memphis, TN.
Alaiz H; Hematology Department, Oncology Institute Francisco Gentil, Lisbon, Portugal.
Andrikovics H; Laboratory of Molecular Diagnostics, Central Hospital of Southern Pest, Budapest, Hungary.
Betts D; National Children's Cancer Service, Children's Health Ireland at Crumlin, Dublin, Ireland.
Beverloo BH; Dutch Childhood Oncology Group (DCOG), Utrecht, The Netherlands.; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Buechner J; Department of Pediatric Hematology and Oncology, Oslo University Hospital, Oslo, Norway.
Čermák M; Department of Genetics, The National Institute of Oncology, Bratislava, Slovakia.
Cervera J; Department of Hematology, Genetics Unit, Centro de Investigación Biomédica en Red de Oncología (CIBERONC), Hospital Universitario y Politécnico La Fe, Valencia, Spain.
Haus O; Department of Clinical Genetics, Faculty of Medicine, Collegium Medicum in Bydgoszcz, Nicolaus Copernicus University, Toruń, Poland.
Jahnukainen K; New Children's Hospital, Pediatric Research Centre, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.; Department of Women's and Children's Health, Karolinska Institutet, and Karolinska University Hospital, Stockholm, Sweden.
Manola KN; Department of Biodiagnostic Sciences and Technologies, The Institute of Nuclear & Radiological Sciences and Technology, Energy & Safety (INRASTES), National Centre for Research 'Demokritos', Athens, Greece.
Nebral K; Labdia Labordiagnostik GmbH, Clinical Genetics, Vienna, Austria.
Pasquali F; Medical Genetics, Department of Medicine and Surgery, University of Insubria, Varese, Italy.
Tchinda J; Laboratory for Oncology, University Children's Hospital Zürich, Zürich, Switzerland.
Turkiewicz D; Department of Pediatrics, Section of Pediatric Oncology, Hematology, Immunology and Nephrology, Skåne University Hospital, Lund, Sweden.
Van Roy N; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
Zemanova Z; Center of Oncocytogenomics, Institute of Medical Biochemistry and Laboratory Diagnostics, General University Hospital and First Faculty of Medicine of Charles University, Prague, Czech Republic; and.
Pastor VB; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.
Strahm B; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.
Noellke P; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.
Niemeyer CM; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.; German Cancer Consortium (DKTK), Freiburg, Germany and German Cancer Research Center (DKFZ), Heidelberg, Germany.
Schlegelberger B; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Yoshimi A; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.
Wlodarski MW; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, and.; Department of Hematology, St Jude Children's Research Hospital, Memphis, TN.
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Źródło :
Blood [Blood] 2021 Dec 09; Vol. 138 (23), pp. 2441-2445.
Typ publikacji :
Letter; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
GATA2 Transcription Factor/*genetics
Myelodysplastic Syndromes/*genetics
Adolescent ; Adult ; Child ; Female ; GATA2 Transcription Factor/deficiency ; Humans ; Male ; Middle Aged ; Translocation, Genetic ; Young Adult
Raport
Tytuł :
Childhood acute myeloid leukemia shows a high level of germline predisposition.
Autorzy :
Samaraweera SE; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Wang PPS; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; ACRF Cancer Genomics Facility, SA Pathology, Adelaide, SA, Australia.
Li KL; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Casolari DA; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Feng J; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; ACRF Cancer Genomics Facility, SA Pathology, Adelaide, SA, Australia.
Pinese M; Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, NSW, Australia.; School of Women's and Children's Health, Faculty of Medicine, UNSW Sydney, NSW, Australia.
Maung KZY; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
Leo P; Institute of Health and Biomedical Innovation, Queensland University of Technology, QLD, Australia.; Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
Cowley M; Children's Cancer Institute, Lowy Cancer Centre, UNSW Sydney, NSW, Australia.; School of Women's and Children's Health, Faculty of Medicine, UNSW Sydney, NSW, Australia.
Perkins K; MRC Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Headington, United Kingdom.
Smith AM; Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.
Ellis J; Institute of Health and Biomedical Innovation, Queensland University of Technology, QLD, Australia.
Wee A; Department of Haematology, Royal Adelaide Hospital, Adelaide, SA, Australia.
Hiwase DK; Department of Haematology, Royal Adelaide Hospital, Adelaide, SA, Australia.
Scott HS; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; ACRF Cancer Genomics Facility, SA Pathology, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School and.
Schreiber AW; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; ACRF Cancer Genomics Facility, SA Pathology, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; School of Biological Sciences, The University of Adelaide, Adelaide, SA, Australia.
Brown AL; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.
Deans AJ; St Vincent's Institute of Medical Research, Melbourne, VIC, Australia.
Ross DM; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; Department of Haematology, Royal Adelaide Hospital, Adelaide, SA, Australia.; Adelaide Medical School and.
Moore AS; Diamantina Institute, The University of Queensland, Brisbane, QLD, Australia.; Oncology Service, Queensland Children's Hospital, Brisbane, QLD, Australia.; Child Health Research Centre, The University of Queensland, Brisbane, QLD, Australia.
Gonda TJ; University of South Australia Cancer Research Institute, Adelaide, SA, Australia; and.; School of Pharmacy, University of Queensland, Brisbane, QLD, Australia.
Hahn CN; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, SA, Australia.; UniSA Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Adelaide Medical School and.
D'Andrea RJ; Centre for Cancer Biology, SA Pathology and University of South Australia, Adelaide, SA, Australia.
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Źródło :
Blood [Blood] 2021 Dec 02; Vol. 138 (22), pp. 2293-2298.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Leukemia, Myeloid, Acute/*genetics
Child ; Gene Frequency ; Genetic Predisposition to Disease ; Germ Cells/metabolism ; Humans ; Whole Genome Sequencing
Raport
Tytuł :
Concordance of BRCA mutation detection in tumor versus blood, and frequency of bi-allelic loss of BRCA in tumors from patients in the phase III SOLO2 trial.
Autorzy :
Hodgson DR; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Boston, MA, USA.
Brown JS; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Cambridge, United Kingdom. Electronic address: .
Dearden SP; Precision Medicine and Biosamples, R&D Oncology, AstraZeneca, Cambridge, United Kingdom.
Lai Z; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Boston, MA, USA.
Elks CE; Precision Medicine and Biosamples, R&D Oncology, AstraZeneca, Cambridge, United Kingdom.
Milenkova T; AstraZeneca, Cambridge, United Kingdom.
Dougherty BA; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Boston, MA, USA.
Lanchbury JS; Myriad Genetics, Salt Lake City, UT, USA.
Perry M; Myriad Genetics, Salt Lake City, UT, USA.
Timms KM; Myriad Genetics, Salt Lake City, UT, USA.
Harrington EA; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Cambridge, United Kingdom.
Barrett JC; Translational Medicine, Oncology R+D, Research and Early Development, AstraZeneca, Boston, MA, USA.
Leary A; Department of Medicine and INSERM U981, Université Paris Saclay and Institut Gustave-Roussy, Villejuif, France.
Pujade-Lauraine E; Medical Oncology Department, Université Paris Descartes, AP-HP, Paris, France.
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Źródło :
Gynecologic oncology [Gynecol Oncol] 2021 Dec; Vol. 163 (3), pp. 563-568. Date of Electronic Publication: 2021 Nov 04.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Loss of Heterozygosity*
BRCA2 Protein/*genetics
Ovarian Neoplasms/*genetics
Ubiquitin-Protein Ligases/*genetics
Antineoplastic Agents/therapeutic use ; BRCA2 Protein/blood ; Carcinoma, Endometrioid/blood ; Carcinoma, Endometrioid/genetics ; Clinical Trials, Phase III as Topic ; Fallopian Tube Neoplasms/blood ; Fallopian Tube Neoplasms/genetics ; Female ; Humans ; Ovarian Neoplasms/blood ; Peritoneal Neoplasms/blood ; Peritoneal Neoplasms/genetics ; Phthalazines/therapeutic use ; Piperazines/therapeutic use ; Polymorphism, Single Nucleotide ; Randomized Controlled Trials as Topic ; Ubiquitin-Protein Ligases/blood
Czasopismo naukowe
Tytuł :
Clinical outcome in patients with primary epithelial ovarian cancer and germline BRCA1/2-mutation - real life data.
Autorzy :
Ataseven B; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany; Department of Obstetrics and Gynecology, University Hospital, LMU, Munich, Germany. Electronic address: .
Tripon D; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany; Department of Obstetrics and Gynecology, University Hospital, LMU, Munich, Germany.
Schwameis R; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany; Department of General Gynecology and Gynecologic Oncology, Medical University of Vienna, Austria.
Harter P; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany.
Rhiem K; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
Schneider S; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany.
Heikaus S; Center for Pathology, Kliniken Essen-Mitte, Essen, Germany.
Baert T; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany; Department of Oncology, Laboratory of Tumour Immunology and Immunotherapy, ImmunOvar Research Group, KU Leuven, Leuven, Belgium.
Francesco AP; Department of Visceral Surgery, Kliniken Essen-Mitte, Essen, Germany.
Heitz F; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany; Department of Gynecology, Campus Virchow Clinic, Charité Medical University, Berlin, Germany.
Traut A; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany.
Groeben HT; Department of Anesthesiology and Intensive Care, Kliniken Essen-Mitte, Essen, Germany.
Schmutzler R; Center for Hereditary Breast and Ovarian Cancer, Center for Integrated Oncology (CIO), Medical Faculty, University Hospital Cologne, Cologne, Germany.
du Bois A; Department of Gynecology and Gynecologic Oncology, Evang, Kliniken Essen-Mitte, Essen, Germany.
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Źródło :
Gynecologic oncology [Gynecol Oncol] 2021 Dec; Vol. 163 (3), pp. 569-577. Date of Electronic Publication: 2021 Sep 24.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Carcinoma, Ovarian Epithelial/*genetics
Carcinoma, Ovarian Epithelial/*surgery
Ovarian Neoplasms/*genetics
Ovarian Neoplasms/*surgery
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Humans ; Middle Aged ; Postoperative Complications/etiology ; Retrospective Studies ; Treatment Outcome ; Young Adult
Czasopismo naukowe
Tytuł :
Cancer incidence, patterns, and genotype-phenotype associations in individuals with pathogenic or likely pathogenic germline TP53 variants: an observational cohort study.
Autorzy :
de Andrade KC; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Khincha PP; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: .
Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Wegman-Ostrosky T; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; Basic Research Subdirection, Instituto Nacional de Cancerología (INCan) Mexico City, Mexico.
Mai PL; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA; Center for Clinical Genetics and Genomics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
Best AF; Biometrics Research Program, Division of Cancer Treatment and Diagnosis, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Savage SA; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
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Źródło :
The Lancet. Oncology [Lancet Oncol] 2021 Dec; Vol. 22 (12), pp. 1787-1798. Date of Electronic Publication: 2021 Nov 12.
Typ publikacji :
Journal Article; Observational Study; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural
MeSH Terms :
Genetic Association Studies*
Genetic Predisposition to Disease*
Germ-Line Mutation*
Li-Fraumeni Syndrome/*pathology
Neoplasms/*pathology
Tumor Suppressor Protein p53/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Child ; Child, Preschool ; Early Detection of Cancer ; Female ; Follow-Up Studies ; Humans ; Incidence ; Infant ; Infant, Newborn ; Li-Fraumeni Syndrome/epidemiology ; Li-Fraumeni Syndrome/genetics ; Li-Fraumeni Syndrome/mortality ; Longitudinal Studies ; Male ; Middle Aged ; Neoplasms/epidemiology ; Neoplasms/genetics ; Neoplasms/mortality ; Prognosis ; Survival Rate ; United States/epidemiology ; Young Adult
Czasopismo naukowe
Tytuł :
Gardner-associated fibroma of the neck: role of a multidisciplinary evaluation for familial adenomatous polyposis diagnosis.
Autorzy :
Signoroni S; Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Piozzi GN; Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Collini P; Department of Diagnostic Pathology and Laboratory Medicine, Fondazione IRCCS Istituto Nazionale Tumori, Milan, Italy.
Cocco IMF; Department of General Surgery, Whipps Cross University Hospital, London, UK.
Biasoni D; Pediatric Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Chiaravalli S; Pediatric Oncology Unit, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Ricci MT; Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Vitellaro M; Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.; Colorectal Surgery Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
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Źródło :
Tumori [Tumori] 2021 Dec; Vol. 107 (6), pp. NP73-NP76. Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Germ-Line Mutation*
Adenomatous Polyposis Coli/*diagnosis
Fibroma/*diagnosis
Gardner Syndrome/*diagnosis
Adenomatous Polyposis Coli/genetics ; Adolescent ; Colonoscopy ; Diagnosis, Differential ; Fibroma/genetics ; Gardner Syndrome/genetics ; Genetic Testing ; Humans ; Male
Czasopismo naukowe
Tytuł :
Avoidance or adaptation of radiotherapy in patients with cancer with Li-Fraumeni and heritable TP53-related cancer syndromes.
Autorzy :
Thariat J; Department of Radiation Oncology, Centre François Baclesse, Caen, Normandy, France; ARCHADE Research Community, Caen, France. Electronic address: .
Chevalier F; UMR6252 CIMAP, CEA-CNRS-ENSICAEN, Université de Caen Normandie, Group ARIA, Caen, Normandy, France; ARCHADE Research Community, Caen, France.
Orbach D; SIREDO Oncology Department, Curie Institute, Paris Sciences Lettres University, Paris, France.
Ollivier L; Department of Radiation Oncology, Centre François Baclesse, Caen, Normandy, France; ARCHADE Research Community, Caen, France.
Marcy PY; Department of Radiology, La Seyne, France.
Corradini N; Department of Oncology, Centre Léon Bérard, Lyon, France.
Beddok A; Department of Radiation Oncology, Curie Institute, Paris, France.
Foray N; U1296 Inserm Unit, Radiations Defense, Health and Environment, Centre Léon-Bérard, Lyon, France.
Bougeard G; Department of Genetics, Normandy Center for Genomic and Personalized Medicine, University Hospital, Rouen, France; Normandie Univ-UniRouen, Inserm U1245, Rouen, France.
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Źródło :
The Lancet. Oncology [Lancet Oncol] 2021 Dec; Vol. 22 (12), pp. e562-e574.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Predisposition to Disease*
Germ-Line Mutation*
Li-Fraumeni Syndrome/*radiotherapy
Neoplasms, Radiation-Induced/*pathology
Neoplastic Syndromes, Hereditary/*radiotherapy
Radiotherapy/*adverse effects
Tumor Suppressor Protein p53/*genetics
Humans ; Li-Fraumeni Syndrome/genetics ; Neoplasms, Radiation-Induced/etiology ; Neoplastic Syndromes, Hereditary/pathology ; Prognosis
Czasopismo naukowe
Tytuł :
De novo germline mutation in the dual specificity phosphatase 10 gene accelerates autoimmune diabetes.
Autorzy :
Foray AP; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Candon S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Hildebrand S; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Marquet C; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Valette F; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Pecquet C; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Lemoine S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Langa-Vives F; Mouse Genetics Engineering Center, Institut Pasteur, 75724 Paris, France.
Dumas M; CNRS UMR7242, Biotechnology and Cell Signaling, University of Strasbourg, 67412 Illkirch Cedex, France.
Hu P; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Santamaria P; Julia McFarlane Diabetes Research Centre, Department of Microbiology, Immunology, and Infectious Diseases, Snyder Institute for Chronic Diseases and Hotchkiss Brain Institute, Cumming School of Medicine, University of Calgary, Calgary AB T2N 4N1, Canada.; Consolidated Group of the Generalitat, Institut D'Investigacions Biomèdiques August Pi i Sunyer, 08036 Barcelona, Spain.
You S; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France.; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Lyon S; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Scott L; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Bu CH; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Wang T; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.; Quantitative Biomedical Research Center, Department of Population and Data Sciences, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Xu D; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Moresco EMY; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390.
Scazzocchio C; Section of Microbiology, Department of Infectious Diseases, Imperial College London, London SW7 2AZ, United Kingdom.; Institute for Integrative Biology of the Cell (I2BC), CEA, CNRS, Université Paris-Saclay, 91198 Gif-sur-Yvette, France.
Bach JF; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France; .; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
Beutler B; Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX 75390; .
Chatenoud L; Institut Necker-Enfants Malades, Université de Paris, 75015 Paris, France; .; Institut Necker-Enfants Malades, CNRS UMR8253, Inserm UMR1151, 75015 Paris, France.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Nov 23; Vol. 118 (47).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Diabetes Mellitus, Type 1/*genetics
Diabetes Mellitus, Type 1/*immunology
Dual-Specificity Phosphatases/*genetics
Genetic Predisposition to Disease/*genetics
Animals ; Autoimmune Diseases/genetics ; Female ; Genome-Wide Association Study ; Haplotypes ; Humans ; Islets of Langerhans/metabolism ; Major Histocompatibility Complex ; Male ; Mice ; Mice, Inbred C57BL ; Mice, Inbred NOD ; Mitogen-Activated Protein Kinase Phosphatases ; Mutation
Czasopismo naukowe
Tytuł :
The value of clinical breast examination in a breast cancer surveillance program for women with germline BRCA1 or BRCA2 mutations.
Autorzy :
Hettipathirana T; University of Melbourne, Melbourne, VIC.; Peter MacCallum Cancer Centre, Melbourne, VIC.
Macdonald C; Peter MacCallum Cancer Centre, Melbourne, VIC.
Xie J; Peter MacCallum Cancer Centre, Melbourne, VIC.
Moodie K; Peter MacCallum Cancer Centre, Melbourne, VIC.
Michael C; Peter MacCallum Cancer Centre, Melbourne, VIC.
Phillips KA; University of Melbourne, Melbourne, VIC.; Peter MacCallum Cancer Centre, Melbourne, VIC.
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Źródło :
The Medical journal of Australia [Med J Aust] 2021 Nov 15; Vol. 215 (10), pp. 460-464. Date of Electronic Publication: 2021 Aug 21.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, BRCA1*
Genes, BRCA2*
Germ-Line Mutation*
Palpation*
Breast Neoplasms/*diagnosis
Breast Neoplasms/*genetics
Early Detection of Cancer/*methods
Adult ; Aged ; Breast Neoplasms/diagnostic imaging ; Female ; Genetic Predisposition to Disease ; Humans ; Longitudinal Studies ; Magnetic Resonance Imaging ; Mammography ; Middle Aged ; Retrospective Studies ; Sensitivity and Specificity ; Young Adult
Czasopismo naukowe
Tytuł :
A replication-linked mutational gradient drives somatic mutation accumulation and influences germline polymorphisms and genome composition in mitochondrial DNA.
Autorzy :
Sanchez-Contreras M; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Sweetwyne MT; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Kohrn BF; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Tsantilas KA; Department of Biochemistry, University of Washington, Seattle, WA 98195, USA.
Hipp MJ; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Schmidt EK; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Fredrickson J; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Whitson JA; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Campbell MD; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
Rabinovitch PS; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Marcinek DJ; Department of Radiology, University of Washington, Seattle, WA 98195, USA.
Kennedy SR; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Nov 08; Vol. 49 (19), pp. 11103-11118.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
DNA Replication*
Genome, Mitochondrial*
Germ-Line Mutation*
Mutation Accumulation*
Aging/*genetics
DNA, Mitochondrial/*genetics
Mitochondria/*genetics
Aging/metabolism ; Animals ; Chromosome Mapping ; DNA Polymerase gamma/deficiency ; DNA Polymerase gamma/genetics ; DNA, Mitochondrial/metabolism ; Genetic Speciation ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mice ; Mice, Inbred C57BL ; Mitochondria/metabolism ; Mutation Rate ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
RET signalling provides tumorigenic mechanism and tissue specificity for AIP-related somatotrophinomas.
Autorzy :
Garcia-Rendueles AR; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Chenlo M; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Oroz-Gonjar F; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Solomou A; Department of Endocrinology, William Harvey Research Institute, Barts and London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Mistry A; Department of Endocrinology, William Harvey Research Institute, Barts and London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Barry S; Department of Endocrinology, William Harvey Research Institute, Barts and London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Gaston-Massuet C; Department of Endocrinology, William Harvey Research Institute, Barts and London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Garcia-Lavandeira M; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Perez-Romero S; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Suarez-Fariña M; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Pradilla-Dieste A; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Dieguez C; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain.
Mehlen P; Patrick Mehlen, Apoptosis, Cancer and Development Laboratory- Equipe labellisée 'La Ligue', LabEx DEVweCAN, Institut PLAsCAN, Centre de Recherche en Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Université de Lyon, Centre Léon Bérard, 69008, Lyon, France.
Korbonits M; Department of Endocrinology, William Harvey Research Institute, Barts and London School of Medicine and Dentistry, Queen Mary University of London, London, UK. .
Alvarez CV; Neoplasia & Endocrine Differentiation P0L5, Centro de Investigación en Medicina Molecular y Enfermedades Crónicas (CIMUS), University of Santiago de Compostela (USC), Santiago de Compostela, Spain. .
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Źródło :
Oncogene [Oncogene] 2021 Nov; Vol. 40 (45), pp. 6354-6368. Date of Electronic Publication: 2021 Sep 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Acromegaly/*genetics
Gigantism/*genetics
Growth Hormone-Secreting Pituitary Adenoma/*genetics
Intracellular Signaling Peptides and Proteins/*genetics
Acromegaly/metabolism ; Animals ; Animals, Newborn ; Apoptosis ; Cell Line ; Female ; Gene Knockout Techniques ; Gigantism/metabolism ; Glial Cell Line-Derived Neurotrophic Factor/metabolism ; Growth Hormone-Secreting Pituitary Adenoma/metabolism ; Humans ; Insulin-Like Growth Factor I/metabolism ; Male ; Mice ; Organ Specificity ; Proto-Oncogene Proteins c-ret/metabolism ; Rats ; Signal Transduction
Czasopismo naukowe
Tytuł :
Novel Models of Genetic Education and Testing for Pancreatic Cancer Interception: Preliminary Results from the GENERATE Study.
Autorzy :
Furniss CS; Dana-Farber Cancer Institute, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Yurgelun MB; Dana-Farber Cancer Institute, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Brigham and Women's Hospital, Boston, Massachusetts.
Ukaegbu C; Dana-Farber Cancer Institute, Boston, Massachusetts.
Constantinou PE; Sheikh Ahmed Center for Pancreatic Cancer Research, University of Texas, MD Anderson Cancer Center, Houston, Texas.
Lafferty CC; Dana-Farber Cancer Institute, Boston, Massachusetts.
Talcove-Berko ER; Dana-Farber Cancer Institute, Boston, Massachusetts.
Schwartz AN; Dana-Farber Cancer Institute, Boston, Massachusetts.
Stopfer JE; Dana-Farber Cancer Institute, Boston, Massachusetts.
Underhill-Blazey M; Dana-Farber Cancer Institute, Boston, Massachusetts.
Kenner B; Kenner Family Research Fund, New York, New York.
Nelson SH; Pancreatic Cancer Action Network Volunteer, Patient Advocate, and Pancreatic Cancer Survivor, St. Anthony, Minnesota.
Okumura S; Color Genomics, Burlingame, California.
Law S; Color Genomics, Burlingame, California.
Zhou AY; Color Genomics, Burlingame, California.
Coffin TB; University of Washington, Seattle, Washington.
Rodriguez NJ; Dana-Farber Cancer Institute, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Brigham and Women's Hospital, Boston, Massachusetts.
Uno H; Dana-Farber Cancer Institute, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.
Ocean AJ; Weill Cornell Medical Center, New York, New York.
McAllister F; Sheikh Ahmed Center for Pancreatic Cancer Research, University of Texas, MD Anderson Cancer Center, Houston, Texas.
Lowy AM; Moores Cancer Center, UC San Diego, San Diego, California.
Lippman SM; Moores Cancer Center, UC San Diego, San Diego, California.
Klein AP; Johns Hopkins University, Sol Goldman Pancreatic Cancer Research Center, Baltimore, Maryland.
Madlensky L; Moores Cancer Center, UC San Diego, San Diego, California.
Petersen GM; Mayo Clinic, Rochester, Minnesota.
Garber JE; Dana-Farber Cancer Institute, Boston, Massachusetts.; Harvard Medical School, Boston, Massachusetts.; Brigham and Women's Hospital, Boston, Massachusetts.
Goggins MG; Johns Hopkins University, Sol Goldman Pancreatic Cancer Research Center, Baltimore, Maryland.
Maitra A; Sheikh Ahmed Center for Pancreatic Cancer Research, University of Texas, MD Anderson Cancer Center, Houston, Texas.
Syngal S; Dana-Farber Cancer Institute, Boston, Massachusetts. .; Harvard Medical School, Boston, Massachusetts.; Brigham and Women's Hospital, Boston, Massachusetts.
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Źródło :
Cancer prevention research (Philadelphia, Pa.) [Cancer Prev Res (Phila)] 2021 Nov; Vol. 14 (11), pp. 1021-1032. Date of Electronic Publication: 2021 Oct 08.
Typ publikacji :
Journal Article; Multicenter Study; Randomized Controlled Trial; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Predisposition to Disease*
Germ-Line Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Genetic Testing/*methods
Pancreatic Neoplasms/*genetics
Risk Assessment/*methods
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Carcinoma, Pancreatic Ductal/genetics ; Carcinoma, Pancreatic Ductal/pathology ; Carcinoma, Pancreatic Ductal/therapy ; Female ; Humans ; Male ; Middle Aged ; Models, Genetic ; Pancreatic Neoplasms/pathology ; Pancreatic Neoplasms/therapy ; Patient Participation ; Risk Factors ; Surveys and Questionnaires ; Telemedicine ; Young Adult
Czasopismo naukowe
Tytuł :
Genetic testing in patients with triple-negative or hereditary breast cancer.
Autorzy :
Bernstein-Molho R; Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center, Tel-Hashomer.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv.
Evron E; Department of Oncology, Kaplan Medical Center, Rehovot.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Yerushalmi R; Institute of Oncology, Davidoff Cancer Center, Rabin Medical Center, Beilinson Hospital, Petah Tikva.; Sackler School of Medicine, Tel-Aviv University, Tel-Aviv.
Paluch-Shimon S; Sharett Institute of Oncology, Hadassah University Hospital, Jerusalem.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
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Źródło :
Current opinion in oncology [Curr Opin Oncol] 2021 Nov 01; Vol. 33 (6), pp. 584-590.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Germ-Line Mutation*
Breast Neoplasms/*genetics
Triple Negative Breast Neoplasms/*genetics
Female ; Genetic Testing/methods ; Humans
Czasopismo naukowe
Tytuł :
Early Development of Colonic Adenocarcinoma With Minimal Polyposis in a Young Child With Metastatic Hepatoblastoma and Germline APC Mutation.
Autorzy :
Liu APY; Departments of Paediatrics and Adolescent Medicine.
Chung PHY; Surgery.
Au Yeung RKH; Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Chan S; Departments of Paediatrics and Adolescent Medicine.
Wong KKY; Surgery.
Leung SY; Pathology, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.
Chiang AKS; Departments of Paediatrics and Adolescent Medicine.
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Źródło :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Nov 01; Vol. 43 (8), pp. e1191-e1193.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Germ-Line Mutation*
Adenocarcinoma/*pathology
Adenomatous Polyposis Coli/*pathology
Adenomatous Polyposis Coli Protein/*genetics
Colonic Neoplasms/*pathology
Hepatoblastoma/*pathology
Liver Neoplasms/*pathology
Adenocarcinoma/etiology ; Adenocarcinoma/therapy ; Adenomatous Polyposis Coli/etiology ; Adenomatous Polyposis Coli/therapy ; Adult ; Antineoplastic Combined Chemotherapy Protocols/therapeutic use ; Chemotherapy, Adjuvant ; Child ; Child, Preschool ; Colectomy ; Colonic Neoplasms/etiology ; Colonic Neoplasms/therapy ; Combined Modality Therapy ; Female ; Hepatoblastoma/genetics ; Hepatoblastoma/therapy ; Humans ; Liver Neoplasms/genetics ; Liver Neoplasms/therapy ; Prognosis
Czasopismo naukowe
Tytuł :
Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.
Autorzy :
Singhal D; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Department of Haematology, Royal Adelaide Hospital, Central Adelaide Local Health Network Adelaide, Adelaide, SA, Australia.; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Hahn CN; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.
Feurstein S; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Wee LYA; Department of Haematology, Royal Adelaide Hospital, Central Adelaide Local Health Network Adelaide, Adelaide, SA, Australia.; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Moma L; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA.
Kutyna MM; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Chhetri R; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Department of Haematology, Royal Adelaide Hospital, Central Adelaide Local Health Network Adelaide, Adelaide, SA, Australia.; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Eshraghi L; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Schreiber AW; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
Feng J; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; School of Molecular and Biological Sciences, University of Adelaide, Adelaide, SA, Australia.
Wang PP; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Babic M; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Parker WT; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Gao S; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Moore S; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Das S; Department of Human Genetics, The University of Chicago, Chicago, IL, USA.
Thomas D; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.; OMICO: Australian Genomic Cancer Medicine Centre, Darlinghurst, NSW, Australia.; St Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Darlinghurst, NSW, Australia.
Pattnaik S; The Kinghorn Cancer Centre, Garvan Institute of Medical Research, Darlinghurst, NSW, Australia.
Brown AL; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.
D'Andrea RJ; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.
Poplawski NK; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Adult Genetics Unit, Royal Adelaide Hospital, Central Adelaide Local Health Network, Adelaide, SA, Australia.
Thomas D; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia.
Scott HS; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia.; Department of Genetics and Molecular Pathology, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.; Clinical and Health Sciences, University of South Australia, Adelaide, SA, Australia.; Australian Cancer Research Foundation Cancer Genomics Facility, Centre for Cancer Biology, SA Pathology, Adelaide, SA, Australia.
Godley LA; Section of Hematology/Oncology, Department of Medicine, The University of Chicago, Chicago, IL, USA. .; Department of Human Genetics, The University of Chicago, Chicago, IL, USA. .
Hiwase DK; Adelaide Medical School, University of Adelaide, Adelaide, SA, Australia. .; Department of Haematology, Royal Adelaide Hospital, Central Adelaide Local Health Network Adelaide, Adelaide, SA, Australia. .; Cancer Theme, South Australian Health and Medical Research Institute, Adelaide, SA, Australia. .
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Źródło :
Leukemia [Leukemia] 2021 Nov; Vol. 35 (11), pp. 3245-3256. Date of Electronic Publication: 2021 Apr 13.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
BRCA1 Protein/*genetics
BRCA2 Protein/*genetics
Biomarkers, Tumor/*genetics
Hematologic Neoplasms/*pathology
Neoplasms/*pathology
Tumor Suppressor Protein p53/*genetics
Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Genetic Predisposition to Disease ; Hematologic Neoplasms/epidemiology ; Hematologic Neoplasms/genetics ; Humans ; Male ; Middle Aged ; Neoplasms/epidemiology ; Neoplasms/genetics ; Prognosis ; Retrospective Studies ; United States/epidemiology ; Young Adult
Czasopismo naukowe

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