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- Shuai Li
- Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia
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- Valentina Silvestri
- Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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- Goska Leslie
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
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- Timothy R. Rebbeck
- Harvard T.H. Chan School of Public Health, Boston, MA
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- Susan L. Neuhausen
- Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA
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- John L. Hopper
- Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia
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- Henriette Roed Nielsen
- Department of Clinical Genetics, Odense University Hospital, Odence, Denmark
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- Andrew Lee
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
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- Xin Yang
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
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- Lesley McGuffog
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
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- Michael T. Parsons
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
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- Irene L. Andrulis
- Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada
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- Norbert Arnold
- Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany
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- Muriel Belotti
- Service de Génétique, Institut Curie, Paris, France
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- Åke Borg
- Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden
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- Bruno Buecher
- Service de Génétique, Institut Curie, Paris, France
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- Saundra S. Buys
- Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT
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- Sandrine M. Caputo
- Service de Génétique, Institut Curie, Paris, France
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- Wendy K. Chung
- Departments of Pediatrics and Medicine, Columbia University, New York, NY
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- Chrystelle Colas
- Service de Génétique, Institut Curie, Paris, France
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- Sarah V. Colonna
- Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT
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- Jackie Cook
- Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom
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- Mary B. Daly
- Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA
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- Miguel de la Hoya
- Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain
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- Antoine de Pauw
- Service de Génétique, Institut Curie, Paris, France
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- Hélène Delhomelle
- Service de Génétique, Institut Curie, Paris, France
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- Jacqueline Eason
- Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom
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- Christoph Engel
- Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany
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- D. Gareth Evans
- 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
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- Ulrike Faust
- Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany
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- Tanja N. Fehm
- Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany
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- Florentia Fostira
- Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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- George Fountzilas
- Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece
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- Megan Frone
- Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD
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- Vanesa Garcia-Barberan
- Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain
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- Pilar Garre
- Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain
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- Marion Gauthier-Villars
- Service de Génétique, Institut Curie, Paris, France
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- Andrea Gehrig
- Department of Human Genetics, University Würzburg, Würzburg, Germany
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- Gord Glendon
- Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada
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- David E. Goldgar
- Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT
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- Lisa Golmard
- Service de Génétique, Institut Curie, Paris, France
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- Mark H. Greene
- Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD
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- Eric Hahnen
- Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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- Ute Hamann
- Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Helen Hanson
- Southwest Thames Regional Genetics Service, St George's Hospital, London, United Kingdom
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- Tiara Hassan
- Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia
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- Julia Hentschel
- Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany
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- Judit Horvath
- Institute of Human Genetics, University of Münster, Münster, Germany
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- Louise Izatt
- Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom
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- Ramunas Janavicius
- Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania
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- Yue Jiao
- Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France
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- Esther M. John
- Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA
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- Beth Y. Karlan
- Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA
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- Sung-Won Kim
- Department of Surgery, Daerim Saint Mary's Hospital, Seoul, South Korea
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- Irene Konstantopoulou
- Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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- Ava Kwong
- Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong
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- Anthony Laugé
- Service de Génétique, Institut Curie, Paris, France
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- Jong Won Lee
- Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, South Korea
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- Fabienne Lesueur
- Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France
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- Noura Mebirouk
- Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France
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- Alfons Meindl
- Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany
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- Emmanuelle Mouret-Fourme
- Service de Génétique, Institut Curie, Paris, France
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- Hannah Musgrave
- Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
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- Joanne Ngeow Yuen Yie
- Cancer Genetics Service, National Cancer Center, Singapore, Singapore
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- Dieter Niederacher
- Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany
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- Sue K. Park
- Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea
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- Inge Sokilde Pedersen
- Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark
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- Juliane Ramser
- Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany
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- Susan J. Ramus
- Faculty of Medicine, School of Women's and Children's Health, University of NSW Sydney, Sydney, New South Wales, Australia
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- Johanna Rantala
- Clinical Genetics, Karolinska Institutet, Stockholm, Sweden
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- Muhammad U. Rashid
- Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Florian Reichl
- Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria
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- Julia Ritter
- Institute of Medical and Human Genetics, Charité–Universitätsmedizin Berlin, Berlin, Germany
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- Andreas Rump
- Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Dresden, Germany
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- Marta Santamariña
- Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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- Claire Saule
- Service de Génétique, Institut Curie, Paris, France
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- Gunnar Schmidt
- Institute of Human Genetics, Hannover Medical School, Hannover, Germany
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- Rita K. Schmutzler
- Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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- Leigha Senter
- Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH
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- Saba Shariff
- West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, United Kingdom
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- Christian F. Singer
- Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria
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- Melissa C. Southey
- Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia
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- Dominique Stoppa-Lyonnet
- Service de Génétique, Institut Curie, Paris, France
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- Christian Sutter
- Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany
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- Yen Tan
- Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria
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- Soo Hwang Teo
- Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia
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- Mary Beth Terry
- Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY
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- Mads Thomassen
- Department of Clinical Genetics, Odense University Hospital, Odence, Denmark
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- Marc Tischkowitz
- Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada
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- Amanda E. Toland
- Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH
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- Diana Torres
- Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany
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- Ana Vega
- Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain
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- Sebastian A. Wagner
- Department of Medicine, Hematology/Oncology, Goethe-University Frankfurt, Frankfurt, Germany
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- Shan Wang-Gohrke
- Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany
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- Barbara Wappenschmidt
- Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany
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- Bernhard H. F. Weber
- Institute of Human Genetics, University Regensburg, Regensburg, Germany
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- Drakoulis Yannoukakos
- Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research “Demokritos”, Athens, Greece
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- Amanda B. Spurdle
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
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- Douglas F. Easton
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
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- Georgia Chenevix-Trench
- Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia
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- Laura Ottini
- Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
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- Antonis C. Antoniou
- Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom
抄録
<jats:sec><jats:title>PURPOSE</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p> 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. </jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p> 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. </jats:p></jats:sec>
収録刊行物
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- Journal of Clinical Oncology
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Journal of Clinical Oncology 40 (14), 1529-1541, 2022-05-10
American Society of Clinical Oncology (ASCO)