Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants.

Autor:	Li S; Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia.; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia., Silvestri V; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Leslie G; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Rebbeck TR; Harvard T.H. Chan School of Public Health, Boston, MA.; Dana-Farber Cancer Institute, Boston, MA., Neuhausen SL; Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA., Hopper JL; Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia., Nielsen HR; Department of Clinical Genetics, Odense University Hospital, Odence, Denmark., Lee A; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Yang X; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., McGuffog L; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Parsons MT; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Andrulis IL; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Arnold N; Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany.; Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany., Belotti M; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Borg Å; Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden., Buecher B; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Buys SS; Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT., Caputo SM; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Chung WK; Departments of Pediatrics and Medicine, Columbia University, New York, NY., Colas C; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Colonna SV; Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT., Cook J; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom., Daly MB; Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA., de la Hoya M; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain., de Pauw A; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Delhomelle H; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Eason J; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom., Engel C; Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany., Evans DG; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Center, Manchester, United Kingdom.; North West Genomics Laboratory Hub, Manchester Center for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Center, Manchester, United Kingdom., Faust U; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Fehm TN; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Fostira F; Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research 'Demokritos', Athens, Greece., Fountzilas G; Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece.; Department of Medical Oncology, German Oncology Center, Limassol, Cyprus., Frone M; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD., Garcia-Barberan V; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain., Garre P; Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain., Gauthier-Villars M; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Gehrig A; Department of Human Genetics, University Würzburg, Würzburg, Germany., Glendon G; Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada., Goldgar DE; Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT., Golmard L; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Greene MH; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD., Hahnen E; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Hamann U; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany., Hanson H; Southwest Thames Regional Genetics Service, St George's Hospital, London, United Kingdom., Hassan T; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia., Hentschel J; Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany., Horvath J; Institute of Human Genetics, University of Münster, Münster, Germany., Izatt L; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom., Janavicius R; Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania.; State Research Institute Center for Innovative Medicine, Vilnius, Lithuania., Jiao Y; Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France.; Institut Curie, Paris, France.; Mines ParisTech, Fontainebleau, France., John EM; Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA.; Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA., Karlan BY; Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA., Kim SW; Department of Surgery, Daerim Saint Mary's Hospital, Seoul, South Korea., Konstantopoulou I; Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research 'Demokritos', Athens, Greece., Kwong A; Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong.; Department of Surgery, The University of Hong Kong, Hong Kong.; Department of Surgery and Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong., Laugé A; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Lee JW; Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, South Korea., Lesueur F; Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France.; Institut Curie, Paris, France.; Mines ParisTech, Fontainebleau, France., Mebirouk N; Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France.; Institut Curie, Paris, France.; Mines ParisTech, Fontainebleau, France., Meindl A; Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany.; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany., Mouret-Fourme E; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Musgrave H; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom., Ngeow Yuen Yie J; Cancer Genetics Service, National Cancer Center, Singapore, Singapore.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore., Niederacher D; Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany., Park SK; Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea.; Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, South Korea.; Cancer Research Institute, Seoul National University, Seoul, South Korea., Pedersen IS; Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark.; Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark.; Department of Clinical Medicine, Aalborg University, Aalborg, Denmark., Ramser J; Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany., Ramus SJ; Faculty of Medicine, School of Women's and Children's Health, University of NSW Sydney, Sydney, New South Wales, Australia.; Adult Cancer Program, Lowy Cancer Research Center, University of NSW Sydney, Sydney, New South Wales, Australia., Rantala J; Clinical Genetics, Karolinska Institutet, Stockholm, Sweden., Rashid MU; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Center (SKMCH & RC), Lahore, Pakistan., Reichl F; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Ritter J; Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany., Rump A; Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Dresden, Germany., Santamariña M; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega Medicina Xenómica, Santiago De Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago De Compostela, Spain., Saule C; Service de Génétique, Institut Curie, Paris, France.; Paris Sciences Lettres Research University, Paris, France., Schmidt G; Institute of Human Genetics, Hannover Medical School, Hannover, Germany., Schmutzler RK; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Faculty of Medicine, Center for Molecular Medicine Cologne (CMMC), University Hospital Cologne, University of Cologne, Cologne, Germany., Senter L; Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH., Shariff S; West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, United Kingdom., Singer CF; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Southey MC; Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia.; Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia.; Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia., Stoppa-Lyonnet D; Service de Génétique, Institut Curie, Paris, France.; Department of Tumour Biology, INSERM U830, Paris, France.; Université Paris Descartes, Paris, France., Sutter C; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany., Tan Y; Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria., Teo SH; Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia.; Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Terry MB; Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY., Thomassen M; Department of Clinical Genetics, Odense University Hospital, Odence, Denmark., Tischkowitz M; Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada.; Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom., Toland AE; Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH., Torres D; Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany.; Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia., Vega A; Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain.; Fundación Pública Galega Medicina Xenómica, Santiago De Compostela, Spain.; Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago De Compostela, Spain., Wagner SA; Department of Medicine, Hematology/Oncology, Goethe-University Frankfurt, Frankfurt, Germany., Wang-Gohrke S; Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany., Wappenschmidt B; Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany., Weber BHF; Institute of Human Genetics, University Regensburg, Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany., Yannoukakos D; Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research 'Demokritos', Athens, Greece., Spurdle AB; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Easton DF; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom., Chenevix-Trench G; Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia., Ottini L; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy., Antoniou AC; Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom.
Jazyk:	angličtina
Zdroj:	Journal of clinical oncology : official journal of the American Society of Clinical Oncology [J Clin Oncol] 2022 May 10; Vol. 40 (14), pp. 1529-1541. Date of Electronic Publication: 2022 Jan 25.
DOI:	10.1200/JCO.21.02112
Abstrakt:	Purpose: To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management. Methods: We used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment. Results: BRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers. Conclusion: In addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs. Competing Interests: Timothy R. RebbeckHonoraria: AstraZeneca (I)Consulting or Advisory Role: AstraZeneca (I) Andrew LeeEmployment: IlluminaPatents, Royalties, Other Intellectual Property: I am an inventor of the BOADICEA model that is licensed to Cambridge Enterprise (part of the University of Cambridge) for commercialization. I have received royalties from Cambridge Enterprise. Norbert ArnoldHonoraria: AstraZeneca Åke BorgHonoraria: Roche, AstraZenecaTravel, Accommodations, Expenses: Roche, AstraZeneca Sandrine CaputoResearch Funding: AstraZeneca/France (Inst) Wendy K. ChungConsulting or Advisory Role: RegeneronResearch Funding: Biogen Chrystelle ColasConsulting or Advisory Role: AstraZeneca/Merck, Pfizer Miguel de la HoyaConsulting or Advisory Role: AstraZenecaResearch Funding: AstraZeneca D. Gareth EvansHonoraria: AstraZeneca Tanja N. FehmConsulting or Advisory Role: Roche, Novartis, Pfizer, AstraZeneca, Daiichi Sankyo, MSD OncologyTravel, Accommodations, Expenses: Roche George FountzilasStock and Other Ownership Interests: GENPREX Inc (I), ARIAD (I), Deciphera Pharmaceuticals Inc (I), Daiichi Sankyo, RFL Holdings, FORMYCONHonoraria: AstraZenecaConsulting or Advisory Role: Pfizer, Roche, NovartisSpeakers' Bureau: Roche (I), LEO Pharma (I), Pfizer (I)Travel, Accommodations, Expenses: Merck (I), Pfizer (I), K.A.M Oncology/Hematology (I) Megan FronePatents, Royalties, Other Intellectual Property: Receive royalties for being a codeveloper of CancerGene Connect Eric HahnenConsulting or Advisory Role: AstraZeneca Helen HansonHonoraria: Pfizer Beth Y. KarlanConsulting or Advisory Role: Roche Pharma AG, Merck, Mercy Bioanalytics, GRAILResearch Funding: GOG Foundation (Inst), NCI-NRG Oncology (Inst), Genentech/Roche (Inst)Patents, Royalties, Other Intellectual Property: US and EU patent on gene signatureOther Relationship: Elsevier Irene KonstantopoulouSpeakers' Bureau: AstraZenecaResearch Funding: AstraZeneca Ava KwongHonoraria: Stryker, AstraZeneca Taiwan Limited, Roche Singapore, Pfizer, AstraZeneca Hong Kong Ltd Joanne Ngeow Yuen YieResearch Funding: AstraZeneca Rita K. SchmutzlerHonoraria: AstraZeneca, Clovis, MSD/AstraZenecaConsulting or Advisory Role: AstraZeneca, MSD/AstraZenecaResearch Funding: Amgen Leigha SenterConsulting or Advisory Role: AstraZeneca/MerckSpeakers' Bureau: AstraZeneca/Merck Christian F. SingerHonoraria: Novartis, AstraZeneca/MedImmune, Daiichi Sankyo Europe GmbHConsulting or Advisory Role: AstraZeneca/MedImmune, Daiichi-Sankyo, Gilead Sciences, Sanofi/Aventis, NovartisSpeakers' Bureau: Novartis, AstraZeneca/MedImmuneResearch Funding: Novartis, Sanofi, Myriad Genetics, Roche, AstraZeneca/MedImmuneTravel, Accommodations, Expenses: Roche, Novartis Dominique Stoppa-LyonnetHonoraria: AstraZeneca/Merck (Inst) Soo Hwang TeoSpeakers' Bureau: AstraZeneca, Pfizer, Roche Sebastian A. WagnerConsulting or Advisory Role: Bayer Antonis C. AntoniouPatents, Royalties, Other Intellectual Property: Inventor of the BOADICEA model, which has been licensed to Cambridge Enterprise for commercialization. May receive royalties if commercialization is realized.No other potential conflicts of interest were reported.
Databáze:	MEDLINE
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