Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families

Autor: P. Tonin, B. Weber, K. Offit, F. Couch, T.R. Rebbeck, S. Neuhausen, A.K. Godwin, M. Daly, J. Wagner-Costalos, D. Berman, G. Grana, E. Fox, M.F. Kane, R.D. Kolodner, M. Krainer, D.A. Haber, J.P. Struewing, E. Warner, B. Rosen, C. Lerman, B. Peshkin, L. Norton, O. Serova, W.D. Foulkes, H.T. Lynch, G.M. Lenoir, S.A. Narod, J.E. Garber

Publikováno v: Nature Medicine. 2:1179-1183

Two founding mutations in BRCA1 and BRCA2 are responsible for a large proportion of Jewish families with the breast-ovarian cancer syndrome.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fc8d016f3ac6b3fc15b28cc29811934d
https://doi.org/10.1038/nm1196-1179

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Correction: Polygenic risk modeling for prediction of epithelial ovarian cancer risk.

Autor: Dareng EO; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., Tyrer JP; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK., Barnes DR; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., Jones MR; Center for Bioinformatics and Functional Genomics, Cedars-Sinai Medical Center, Los Angeles, CA, USA., Yang X; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., Aben KKH; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands.; Netherlands Comprehensive Cancer Organisation, Utrecht, The Netherlands., Adank MA; The Netherlands Cancer Institute-Antoni van Leeuwenhoek hospital, Family Cancer Clinic, Amsterdam, The Netherlands., Agata S; Veneto Institute of Oncology IOV-IRCCS, Immunology and Molecular Oncology Unit, Padua, Italy., Andrulis IL; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada.; University of Toronto, Department of Molecular Genetics, Toronto, ON, Canada., Anton-Culver H; University of California Irvine, Department of Epidemiology, Genetic Epidemiology Research Institute, Irvine, CA, USA., Antonenkova NN; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus., Aravantinos G; 'Agii Anargiri' Cancer Hospital, Athens, Greece., Arun BK; University of Texas MD Anderson Cancer Center, Department of Breast Medical Oncology, Houston, TX, USA., Augustinsson A; Lund University, Department of Cancer Epidemiology, Clinical Sciences, Lund, Sweden., Balmaña J; Vall d'Hebron Institute of Oncology, Hereditary cancer Genetics Group, Barcelona, Spain.; University Hospital of Vall d'Hebron, Department of Medical Oncology, Barcelona, Spain., Bandera EV; Rutgers Cancer Institute of New Jersey, Cancer Prevention and Control Program, New Brunswick, NJ, USA., Barkardottir RB; Landspitali University Hospital, Department of Pathology, Reykjavik, Iceland.; University of Iceland, BMC (Biomedical Centre), Faculty of Medicine, Reykjavik, Iceland., Barrowdale D; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., Beckmann MW; University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany., Beeghly-Fadiel A; Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA., Benitez J; Biomedical Network on Rare Diseases (CIBERER), Madrid, Spain.; Spanish National Cancer Research Centre (CNIO), Human Cancer Genetics Programme, Madrid, Spain., Bermisheva M; Ufa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia., Bernardini MQ; Princess Margaret Hospital, Division of Gynecologic Oncology, University Health Network, Toronto, ON, Canada., Bjorge L; Haukeland University Hospital, Department of Obstetrics and Gynecology, Bergen, Norway.; University of Bergen, Centre for Cancer Biomarkers CCBIO, Department of Clinical Science, Bergen, Norway., Black A; National Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA., Bogdanova NV; N.N. Alexandrov Research Institute of Oncology and Medical Radiology, Minsk, Belarus.; Hannover Medical School, Department of Radiation Oncology, Hannover, Germany.; Hannover Medical School, Gynaecology Research Unit, Hannover, Germany., Bonanni B; IEO, European Institute of Oncology IRCCS, Division of Cancer Prevention and Genetics, Milan, Italy., Borg A; Lund University and Skåne University Hospital, Department of Oncology, Lund, Sweden., Brenton JD; Cancer Research UK Cambridge Institute, University of Cambridge, Cambridge, UK., Budzilowska A; Maria Sklodowska-Curie National Research Institute of Oncology, Department of Pathology and Laboratory Diagnostics, Warsaw, Poland., Butzow R; University of Helsinki, Department of Pathology, Helsinki University Hospital, Helsinki, Finland., Buys SS; Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA., Cai H; Vanderbilt University School of Medicine, Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Nashville, TN, USA., Caligo MA; University Hospital, SOD Genetica Molecolare, Pisa, Italy., Campbell I; Peter MacCallum Cancer Center, Melbourne, VIC, Australia.; The University of Melbourne, Sir Peter MacCallum Department of Oncology, Melbourne, VIC, Australia., Cannioto R; Roswell Park Cancer Institute, Cancer Pathology & Prevention, Division of Cancer Prevention and Population Sciences, Buffalo, NY, USA., Cassingham H; Division of Human Genetics, The Ohio State University, Department of Internal Medicine, Columbus, OH, USA., Chang-Claude J; German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany.; University Medical Center Hamburg-Eppendorf, Cancer Epidemiology Group, University Cancer Center Hamburg (UCCH), Hamburg, Germany., Chanock SJ; National Cancer Institute, National Institutes of Health, Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA., Chen K; Tianjin Medical University Cancer Institute and Hospital, Department of Epidemiology, Tianjin, China., Chiew YE; The University of Sydney, Centre for Cancer Research, The Westmead Institute for Medical Research, Sydney, NSW, Australia.; Westmead Hospital, Department of Gynaecological Oncology, Sydney, NSW, Australia., Chung WK; Columbia University, Departments of Pediatrics and Medicine, New York, NY, USA., Claes KBM; Ghent University, Centre for Medical Genetics, Gent, Belgium., Colonna S; Huntsman Cancer Institute, Department of Medicine, Salt Lake City, UT, USA., Cook LS; University of New Mexico, University of New Mexico Health Sciences Center, Albuquerque, NM, USA.; Alberta Health Services, Department of Cancer Epidemiology and Prevention Research, Calgary, AB, Canada., Couch FJ; Mayo Clinic, Department of Laboratory Medicine and Pathology, Rochester, MN, USA., Daly MB; Fox Chase Cancer Center, Department of Clinical Genetics, Philadelphia, PA, USA., Dao F; Memorial Sloan Kettering Cancer Center, Gynecology Service, Department of Surgery, New York, NY, USA., Davies E; Cambridge, Cambridge, UK., de la Hoya M; CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clínico San Carlos), Molecular Oncology Laboratory, Madrid, Spain., de Putter R; Ghent University, Centre for Medical Genetics, Gent, Belgium., Dennis J; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., DePersia A; NorthShore University Health System, Center for Medical Genetics, Evanston, IL, USA.; The University of Chicago Pritzker School of Medicine, Chicago, IL, USA., Devilee P; Leiden University Medical Center, Department of Pathology, Leiden, The Netherlands.; Leiden University Medical Center, Department of Human Genetics, Leiden, The Netherlands., Diez O; Vall dHebron Institute of Oncology (VHIO), Oncogenetics Group, Barcelona, Spain.; University Hospital Vall dHebron, Clinical and Molecular Genetics Area, Barcelona, Spain., Ding YC; Beckman Research Institute of City of Hope, Department of Population Sciences, Duarte, CA, USA., Doherty JA; University of Utah, Huntsman Cancer Institute, Department of Population Health Sciences, Salt Lake City, UT, USA., Domchek SM; University of Pennsylvania, Basser Center for BRCA, Abramson Cancer Center, Philadelphia, PA, USA., Dörk T; Hannover Medical School, Gynaecology Research Unit, Hannover, Germany., du Bois A; Ev. Kliniken Essen-Mitte (KEM), Department of Gynecology and Gynecologic Oncology, Essen, Germany.; Dr. Horst Schmidt Kliniken Wiesbaden, Department of Gynecology and Gynecologic Oncology, Wiesbaden, Germany., Dürst M; Jena University Hospital-Friedrich Schiller University, Department of Gynaecology, Jena, Germany., Eccles DM; University of Southampton, Faculty of Medicine, Southampton, UK., Eliassen HA; Harvard T.H. Chan School of Public Health, Department of Epidemiology, Boston, MA, USA.; Brigham and Women's Hospital and Harvard Medical School, Channing Division of Network Medicine, Boston, MA, USA., Engel C; University of Leipzig, Institute for Medical Informatics, Statistics and Epidemiology, Leipzig, Germany.; University of Leipzig, LIFE-Leipzig Research Centre for Civilization Diseases, Leipzig, Germany., Evans GD; University of Manchester, Manchester Academic Health Science Centre, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, Manchester, UK.; St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, North West Genomics Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester, UK., Fasching PA; University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nuremberg, Department of Gynecology and Obstetrics, Comprehensive Cancer Center ER-EMN, Erlangen, Germany.; University of California at Los Angeles, David Geffen School of Medicine, Department of Medicine Division of Hematology and Oncology, Los Angeles, CA, USA., Flanagan JM; Imperial College London, Division of Cancer and Ovarian Cancer Action Research Centre, Department of Surgery and Cancer, London, UK., Fortner RT; German Cancer Research Center (DKFZ), Division of Cancer Epidemiology, Heidelberg, Germany., Machackova E; Masaryk Memorial Cancer Institute, Department of Cancer Epidemiology and Genetics, Brno, Czech Republic., Friedman E; Chaim Sheba Medical Center, The Susanne Levy Gertner Oncogenetics Unit, Ramat Gan, Israel.; Tel Aviv University, Sackler Faculty of Medicine, Ramat Aviv, Israel., Ganz PA; Jonsson Comprehensive Cancer Centre, UCLA, Schools of Medicine and Public Health, Division of Cancer Prevention & Control Research, Los Angeles, CA, USA., Garber J; Dana-Farber Cancer Institute, Cancer Risk and Prevention Clinic, Boston, MA, USA., Gensini F; University of Florence, Department of Experimental and Clinical Biomedical Sciences 'Mario Serio', Medical Genetics Unit, Florence, Italy., Giles GG; Cancer Council Victoria, Cancer Epidemiology Division, Melbourne, VIC, Australia.; The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia.; Monash University, Precision Medicine, School of Clinical Sciences at Monash Health, Clayton, VIC, Australia., Glendon G; Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Fred A. Litwin Center for Cancer Genetics, Toronto, ON, Canada., Godwin AK; University of Kansas Medical Center, Department of Pathology and Laboratory Medicine, Kansas City, KS, USA., Goodman MT; Cedars-Sinai Medical Center, Samuel Oschin Comprehensive Cancer Institute, Cancer Prevention and Genetics Program, Los Angeles, CA, USA., Greene MH; National Cancer Institute, Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, Bethesda, MD, USA., Gronwald J; Pomeranian Medical University, Department of Genetics and Pathology, Szczecin, Poland., Hahnen E; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Familial Breast and Ovarian Cancer, Cologne, Germany.; Faculty of Medicine and University Hospital Cologne, University of Cologne, Center for Integrated Oncology (CIO), Cologne, Germany., Haiman CA; University of Southern California, Department of Preventive Medicine, Keck School of Medicine, Los Angeles, CA, USA., Håkansson N; Karolinska Institutet, Institute of Environmental Medicine, Stockholm, Sweden., Hamann U; German Cancer Research Center (DKFZ), Molecular Genetics of Breast Cancer, Heidelberg, Germany., Hansen TVO; Rigshospitalet, Copenhagen University Hospital, Department of Clinical Genetics, Copenhagen, Denmark., Harris HR; Fred Hutchinson Cancer Research Center, Program in Epidemiology, Division of Public Health Sciences, Seattle, WA, USA.; University of Washington, Department of Epidemiology, Seattle, WA, USA., Hartman M; National University of Singapore and National University Health System, Saw Swee Hock School of Public Health, Singapore, Singapore.; National University Health System, Department of Surgery, Singapore, Singapore., Heitz F; Ev. Kliniken Essen-Mitte (KEM), Department of Gynecology and Gynecologic Oncology, Essen, Germany.; Dr. Horst Schmidt Kliniken Wiesbaden, Department of Gynecology and Gynecologic Oncology, Wiesbaden, Germany.; Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department for Gynecology with the Center for Oncologic Surgery Charité Campus Virchow-Klinikum, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Berlin, Germany., Hildebrandt MAT; University of Texas MD Anderson Cancer Center, Department of Epidemiology, Houston, TX, USA., Høgdall E; Danish Cancer Society Research Center, Department of Virus, Lifestyle and Genes, Copenhagen, Denmark.; University of Copenhagen, Molecular Unit, Department of Pathology, Herlev Hospital, Copenhagen, Denmark., Høgdall CK; University of Copenhagen, Department of Gynaecology, Rigshospitalet, Copenhagen, Denmark., Hopper JL; The University of Melbourne, Centre for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, Melbourne, VIC, Australia., Huang RY; Roswell Park Cancer Institute, Center For Immunotherapy, Buffalo, NY, USA., Huff C; University of Texas MD Anderson Cancer Center, Department of Epidemiology, Houston, TX, USA., Hulick PJ; NorthShore University Health System, Center for Medical Genetics, Evanston, IL, USA.; The University of Chicago Pritzker School of Medicine, Chicago, IL, USA., Huntsman DG; BC Cancer, Vancouver General Hospital, and University of British Columbia, British Columbia's Ovarian Cancer Research (OVCARE) Program, Vancouver, BC, Canada.; University of British Columbia, Department of Pathology and Laboratory Medicine, Vancouver, BC, Canada.; University of British Columbia, Department of Obstetrics and Gynecology, Vancouver, BC, Canada.; BC Cancer Research Centre, Department of Molecular Oncology, Vancouver, BC, Canada., Imyanitov EN; N.N. 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Stanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA, USA.; Stanford Cancer Institute, Stanford University School of Medicine, Department of Medicine, Division of Oncology, Stanford, CA, USA., Jones ME; The Institute of Cancer Research, Division of Genetics and Epidemiology, London, UK., Kang D; Seoul National University College of Medicine, Department of Preventive Medicine, Seoul, Korea.; Seoul National University Graduate School, Department of Biomedical Sciences, Seoul, Korea.; Seoul National University, Cancer Research Institute, Seoul, Korea., Karlan BY; University of California at Los Angeles, David Geffen School of Medicine, Department of Obstetrics and Gynecology, Los Angeles, CA, USA., Karnezis A; UC Davis Medical Center, Department of Pathology and Laboratory Medicine, Sacramento, CA, USA., Kelemen LE; Medical University of South Carolina, Hollings Cancer Center, Charleston, SC, USA., Khusnutdinova E; Ufa Federal Research Centre of the Russian Academy of Sciences, Institute of Biochemistry and Genetics, Ufa, Russia.; Saint Petersburg State University, Saint Petersburg, Russia., Kiemeney LA; Radboud University Medical Center, Radboud Institute for Health Sciences, Nijmegen, The Netherlands., Kim BG; Sungkyunkwan University School of Medicine, Department of Obstetrics and Gynecology, Samsung Medical Center, Seoul, Korea., Kjaer SK; Danish Cancer Society Research Center, Department of Virus, Lifestyle and Genes, Copenhagen, Denmark.; University of Copenhagen, Department of Gynaecology, Rigshospitalet, Copenhagen, Denmark., Komenaka I; City of Hope Clinical Cancer Genetics Community Research Network, Duarte, CA, USA., Kupryjanczyk J; Maria Sklodowska-Curie National Research Institute of Oncology, Department of Pathology and Laboratory Diagnostics, Warsaw, Poland., Kurian AW; Stanford University School of Medicine, Department of Epidemiology & Population Health, Stanford, CA, USA.; Stanford Cancer Institute, Stanford University School of Medicine, Department of Medicine, Division of Oncology, Stanford, CA, USA., Kwong A; 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Fondazione IRCCS Istituto Nazionale dei Tumori di Milano, Unit of Medical Genetics, Department of Medical Oncology and Hematology, Milan, Italy., Marks JR; Duke University Hospital, Department of Surgery, Durham, NC, USA., Matsuno RK; University of Hawaii Cancer Center, Cancer Epidemiology Program, Honolulu, HI, USA., Matsuo K; Aichi Cancer Center Research Institute, Division of Cancer Epidemiology and Prevention, Nagoya, Japan.; Nagoya University Graduate School of Medicine, Division of Cancer Epidemiology, Nagoya, Japan., May T; Princess Margaret Hospital, Division of Gynecologic Oncology, University Health Network, Toronto, ON, Canada., McGuffog L; University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, Cambridge, UK., McLaughlin JR; Samuel Lunenfeld Research Institute, Public Health Ontario, Toronto, ON, Canada., McNeish IA; Imperial College London, Division of Cancer and Ovarian Cancer Action Research Centre, Department Surgery & Cancer, London, UK.; 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Hebei Medical University, Fourth Hospital, Department of Obstetrics and Gynaecology, Shijiazhuang, China., Sieh W; Icahn School of Medicine at Mount Sinai, Department of Population Health Science and Policy, New York, NY, USA.; Icahn School of Medicine at Mount Sinai, Department of Genetics and Genomic Sciences, New York, NY, USA., Simard J; Centre Hospitalier Universitaire de Québec-Université Laval Research Center, Genomic Center, Québec City, QC, Canada., Singer CF; Medical University of Vienna, Dept of OB/GYN and Comprehensive Cancer Center, Vienna, Austria., Sokolenko AP; N.N. 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University of Cambridge, Centre for Cancer Genetic Epidemiology, Department of Oncology, Cambridge, UK. pp10001@medschl.cam.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 May; Vol. 30 (5), pp. 630-631.