Cancer Risks Associated With <i>BRCA1</i> and <i>BRCA2</i> Pathogenic Variants-Reference-Cited by-同舟云学术

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Published:2022-05-10 Issue:14 Volume:40 Page:1529-1541
ISSN:0732-183X
Container-title:Journal of Clinical Oncology
language:en
Short-container-title:JCO

Author:

Li Shuai¹²³^ORCID,Silvestri Valentina⁴^ORCID,Leslie Goska²^ORCID,Rebbeck Timothy R.⁵⁶^ORCID,Neuhausen Susan L.⁷^ORCID,Hopper John L.¹^ORCID,Nielsen Henriette Roed⁸,Lee Andrew²^ORCID,Yang Xin²^ORCID,McGuffog Lesley²,Parsons Michael T.⁹^ORCID,Andrulis Irene L.¹⁰¹¹^ORCID,Arnold Norbert¹²¹³,Belotti Muriel¹⁴¹⁵,Borg Åke¹⁶^ORCID,Buecher Bruno¹⁴¹⁵,Buys Saundra S.¹⁷^ORCID,Caputo Sandrine M.¹⁴¹⁵^ORCID,Chung Wendy K.¹⁸^ORCID,Colas Chrystelle¹⁴¹⁵,Colonna Sarah V.¹⁷,Cook Jackie¹⁹,Daly Mary B.²⁰,de la Hoya Miguel²¹^ORCID,de Pauw Antoine¹⁴¹⁵^ORCID,Delhomelle Hélène¹⁴¹⁵,Eason Jacqueline²²,Engel Christoph²³^ORCID,Evans D. Gareth²⁴²⁵,Faust Ulrike²⁶,Fehm Tanja N.²⁷,Fostira Florentia²⁸^ORCID,Fountzilas George²⁹³⁰^ORCID,Frone Megan³¹^ORCID,Garcia-Barberan Vanesa²¹,Garre Pilar²¹^ORCID,Gauthier-Villars Marion¹⁴¹⁵,Gehrig Andrea³²,Glendon Gord¹⁰^ORCID,Goldgar David E.³³^ORCID,Golmard Lisa¹⁴¹⁵^ORCID,Greene Mark H.³¹,Hahnen Eric³⁴³⁵^ORCID,Hamann Ute³⁶,Hanson Helen³⁷^ORCID,Hassan Tiara³⁸^ORCID,Hentschel Julia³⁹,Horvath Judit⁴⁰,Izatt Louise⁴¹,Janavicius Ramunas⁴²⁴³,Jiao Yue⁴⁴⁴⁵⁴⁶^ORCID,John Esther M.⁴⁷⁴⁸^ORCID,Karlan Beth Y.⁴⁹^ORCID,Kim Sung-Won⁵⁰,Konstantopoulou Irene²⁸^ORCID,Kwong Ava⁵¹⁵²⁵³,Laugé Anthony¹⁴¹⁵,Lee Jong Won⁵⁴^ORCID,Lesueur Fabienne⁴⁴⁴⁵⁴⁶^ORCID,Mebirouk Noura⁴⁴⁴⁵⁴⁶,Meindl Alfons⁵⁵⁵⁶,Mouret-Fourme Emmanuelle¹⁴¹⁵,Musgrave Hannah⁵⁷,Ngeow Yuen Yie Joanne⁵⁸⁵⁹^ORCID,Niederacher Dieter²⁷^ORCID,Park Sue K.⁶⁰⁶¹⁶²,Pedersen Inge Sokilde⁶³⁶⁴⁶⁵^ORCID,Ramser Juliane⁵⁶,Ramus Susan J.⁶⁶⁶⁷^ORCID,Rantala Johanna⁶⁸,Rashid Muhammad U.³⁶⁶⁹^ORCID,Reichl Florian⁷⁰,Ritter Julia⁷¹,Rump Andreas⁷²^ORCID,Santamariña Marta⁷³⁷⁴⁷⁵,Saule Claire¹⁴¹⁵^ORCID,Schmidt Gunnar⁷⁶,Schmutzler Rita K.³⁴³⁵⁷⁷,Senter Leigha⁷⁸^ORCID,Shariff Saba⁷⁹^ORCID,Singer Christian F.⁷⁰^ORCID,Southey Melissa C.³⁸⁰⁸¹^ORCID,Stoppa-Lyonnet Dominique¹⁴⁸²⁸³^ORCID,Sutter Christian⁸⁴,Tan Yen⁷⁰,Teo Soo Hwang³⁸⁸⁵^ORCID,Terry Mary Beth⁸⁶^ORCID,Thomassen Mads⁸,Tischkowitz Marc⁸⁷⁸⁸^ORCID,Toland Amanda E.⁸⁹^ORCID,Torres Diana³⁶⁹⁰,Vega Ana⁷³⁷⁴⁷⁵^ORCID,Wagner Sebastian A.⁹¹^ORCID,Wang-Gohrke Shan⁹²,Wappenschmidt Barbara³⁴³⁵,Weber Bernhard H. F.⁹³⁹⁴^ORCID,Yannoukakos Drakoulis²⁸^ORCID,Spurdle Amanda B.⁹^ORCID,Easton Douglas F.²^ORCID,Chenevix-Trench Georgia⁹^ORCID,Ottini Laura⁴^ORCID,Antoniou Antonis C.²^ORCID

Affiliation:

1. Center for Epidemiology and Biostatistics, Melbourne School of Population and Global Health, The University of Melbourne, Parkville, Victoria, Australia

2. Center for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, United Kingdom

3. Precision Medicine, School of Clinical Sciences at Monash Health, Monash University, Clayton, Victoria, Australia

4. Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

5. Harvard T.H. Chan School of Public Health, Boston, MA

6. Dana-Farber Cancer Institute, Boston, MA

7. Department of Population Sciences, Beckman Research Institute of City of Hope, Duarte, CA

8. Department of Clinical Genetics, Odense University Hospital, Odence, Denmark

9. Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia

10. Fred A. Litwin Center for Cancer Genetics, Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital, Toronto, ON, Canada

11. Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada

12. Department of Gynaecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany

13. Institute of Clinical Molecular Biology, University Hospital of Schleswig-Holstein, Campus Kiel, Christian-Albrechts University Kiel, Kiel, Germany

14. Service de Génétique, Institut Curie, Paris, France

15. Paris Sciences Lettres Research University, Paris, France

16. Division of Oncology and Pathology, Department of Clinical Sciences Lund, Lund University, Lund, Sweden

17. Department of Medicine and Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT

18. Departments of Pediatrics and Medicine, Columbia University, New York, NY

19. Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield, United Kingdom

20. Department of Clinical Genetics, Fox Chase Cancer Center, Philadelphia, PA

21. Molecular Oncology Laboratory, CIBERONC, Hospital Clinico San Carlos, IdISSC (Instituto de Investigación Sanitaria del Hospital Clinico San Carlos), Madrid, Spain

22. Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, United Kingdom

23. Institute for Medical Informatics, Statistics and Epidemiology, University of Leipzig, Leipzig, Germany

24. 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

25. 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

26. Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

27. Department of Gynecology and Obstetrics, University Hospital Düsseldorf, Heinrich-Heine University Düsseldorf, Düsseldorf, Germany

28. Molecular Diagnostics Laboratory, INRASTES, National Center for Scientific Research “Demokritos”, Athens, Greece

29. Aristotle University of Thessaloniki School of Medicine, Thessaloniki, Greece

30. Department of Medical Oncology, German Oncology Center, Limassol, Cyprus

31. Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD

32. Department of Human Genetics, University Würzburg, Würzburg, Germany

33. Department of Dermatology, Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, UT

34. Center for Familial Breast and Ovarian Cancer, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

35. Center for Integrated Oncology (CIO), Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany

36. Molecular Genetics of Breast Cancer, German Cancer Research Center (DKFZ), Heidelberg, Germany

37. Southwest Thames Regional Genetics Service, St George's Hospital, London, United Kingdom

38. Breast Cancer Research Programme, Cancer Research Malaysia, Subang Jaya, Selangor, Malaysia

39. Institute of Human Genetics, University Hospital Leipzig, Leipzig, Germany

40. Institute of Human Genetics, University of Münster, Münster, Germany

41. Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London, United Kingdom

42. Faculty of Medicine, Department of Human and Medical Genetics, Institute of Biomedical Sciences, Vilnius University, Vilnius, Lithuania

43. State Research Institute Center for Innovative Medicine, Vilnius, Lithuania

44. Genetic Epidemiology of Cancer Team, Inserm U900, Paris, France

45. Institut Curie, Paris, France

46. Mines ParisTech, Fontainebleau, France

47. Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, CA

48. Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA

49. Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, CA

50. Department of Surgery, Daerim Saint Mary's Hospital, Seoul, South Korea

51. Hong Kong Hereditary Breast Cancer Family Registry, Hong Kong

52. Department of Surgery, The University of Hong Kong, Hong Kong

53. Department of Surgery and Cancer Genetics Center, Hong Kong Sanatorium and Hospital, Hong Kong

54. Department of Surgery, Ulsan University College of Medicine and Asan Medical Center, Seoul, South Korea

55. Department of Gynecology and Obstetrics, University of Munich, Campus Großhadern, Munich, Germany

56. Division of Gynaecology and Obstetrics, Klinikum rechts der Isar der Technischen Universität München, Munich, Germany

57. Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom

58. Cancer Genetics Service, National Cancer Center, Singapore, Singapore

59. Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore

60. Department of Preventive Medicine, Seoul National University College of Medicine, Seoul, South Korea

61. Integrated Major in Innovative Medical Science, Seoul National University College of Medicine, Seoul, South Korea

62. Cancer Research Institute, Seoul National University, Seoul, South Korea

63. Molecular Diagnostics, Aalborg University Hospital, Aalborg, Denmark

64. Clinical Cancer Research Center, Aalborg University Hospital, Aalborg, Denmark

65. Department of Clinical Medicine, Aalborg University, Aalborg, Denmark

66. Faculty of Medicine, School of Women's and Children's Health, University of NSW Sydney, Sydney, New South Wales, Australia

67. Adult Cancer Program, Lowy Cancer Research Center, University of NSW Sydney, Sydney, New South Wales, Australia

68. Clinical Genetics, Karolinska Institutet, Stockholm, Sweden

69. Department of Basic Sciences, Shaukat Khanum Memorial Cancer Hospital and Research Center (SKMCH & RC), Lahore, Pakistan

70. Department of OB/GYN and Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria

71. Institute of Medical and Human Genetics, Charité–Universitätsmedizin Berlin, Berlin, Germany

72. Faculty of Medicine Carl Gustav Carus, Institute for Clinical Genetics, TU Dresden, Dresden, Germany

73. Centro de Investigación en Red de Enfermedades Raras (CIBERER), Madrid, Spain

74. Fundación Pública Galega Medicina Xenómica, Santiago De Compostela, Spain

75. Instituto de Investigación Sanitaria de Santiago de Compostela, Santiago De Compostela, Spain

76. Institute of Human Genetics, Hannover Medical School, Hannover, Germany

77. Faculty of Medicine, Center for Molecular Medicine Cologne (CMMC), University Hospital Cologne, University of Cologne, Cologne, Germany

78. Clinical Cancer Genetics Program, Division of Human Genetics, Department of Internal Medicine, The Comprehensive Cancer Center, The Ohio State University, Columbus, OH

79. West Midlands Regional Genetics Service, Birmingham Women's Hospital Healthcare NHS Trust, Birmingham, United Kingdom

80. Department of Clinical Pathology, The University of Melbourne, Parkville, Victoria, Australia

81. Cancer Epidemiology Division, Cancer Council Victoria, Melbourne, Victoria, Australia

82. Department of Tumour Biology, INSERM U830, Paris, France

83. Université Paris Descartes, Paris, France

84. Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany

85. Department of Surgery, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia

86. Department of Epidemiology, Mailman School of Public Health, Columbia University, New York, NY

87. Program in Cancer Genetics, Departments of Human Genetics and Oncology, McGill University, Montréal, QC, Canada

88. Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom

89. Department of Cancer Biology and Genetics, The Ohio State University, Columbus, OH

90. Institute of Human Genetics, Pontificia Universidad Javeriana, Bogota, Colombia

91. Department of Medicine, Hematology/Oncology, Goethe-University Frankfurt, Frankfurt, Germany

92. Department of Gynaecology and Obstetrics, University Hospital Ulm, Ulm, Germany

93. Institute of Human Genetics, University Regensburg, Regensburg, Germany

94. Institute of Clinical Human Genetics, University Hospital Regensburg, Regensburg, Germany

Abstract

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.

Publisher

American Society of Clinical Oncology (ASCO)

Subject

Cancer Research,Oncology

Link

https://ascopubs.org/doi/pdfdirect/10.1200/JCO.21.02112

Reference41 articles.

1. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers

2. Cancer Risks in BRCA2 Mutation Carriers

3. Cancer Risk Estimates for BRCA1 Mutation Carriers Identified in a Risk Evaluation Program

4. Cancer Incidence in BRCA1 Mutation Carriers

5. Cancer risks in BRCA2 families: estimates for sites other than breast and ovary

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