articleJournal of Clinical OncologyJan 25, 2022GREEN OA

Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

SLShuai LiVSValentina SilvestriGLGoska LeslieTRTimothy R. RebbeckSLSusan L. Neuhausen

The University of Melbourne · University of Cambridge · +94 more institutions

PubMed
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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…

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271
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Authors

102
  • SL
    Shuai LiCorresponding

    The University of Melbourne, University of Cambridge, Monash Health, Monash University

  • VS
    Valentina Silvestri

    Sapienza University of Rome

  • GL
    Goska Leslie

    University of Cambridge

  • TR
    Timothy R. Rebbeck

    Harvard University, Dana-Farber Cancer Institute

  • SL
    Susan L. Neuhausen

    City of Hope, Beckman Research Institute

Topics & keywords

Topics
Keywords
  • Cancer
  • Prostate cancer
  • Breast cancer
  • Ovarian cancer
  • Risk assessment
  • Prostate
  • Genetic variants
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