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Research Letter
July 9, 2020

Presymptomatic Awareness of Germline Pathogenic BRCA Variants and Associated Outcomes in Women With Breast Cancer

Author Affiliations
  • 1Breast Surgery Unit, Department of Surgery, Shaare Zedek Medical Center, Jerusalem, Israel
  • 2Department of Obstetrics & Gynecology, Shaare Zedek Medical Center, Jerusalem, Israel
  • 3Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
  • 4Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel
  • 5Breast Imaging Unit, Department of Imaging, Shaare Zedek Medical Center, Jerusalem, Israel
  • 6Departments of Radiation Oncology and Medicine, University of Colorado, Anschutz Medical Campus, Aurora
JAMA Oncol. 2020;6(9):1460-1463. doi:10.1001/jamaoncol.2020.2059

Individuals who carry pathogenic BRCA variants are often identified only after a cancer diagnosis because about half of these persons lack relevant family history (FH),1 and BRCA screening is not routinely performed. Unaffected carriers of pathogenic variants unaware of their genetic status cannot undertake recommended surveillance and prevention measures, including risk-reduction bilateral mastectomy (RRBM), which reduces breast cancer risk in carriers of pathogenic BRCA variants2 and overall mortality in BRCA1 carriers.3 However, worldwide, most carriers decline RRBM.4 We hypothesized that among carriers who decline RRBM and ultimately develop breast cancer, knowing their BRCA status before cancer diagnosis might lead to breast cancer downstaging at diagnosis and measurable downstream benefits.

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