Two large case-control studies provide more-robust estimates of the risk for hereditary breast cancer associated with previously implicated genes.
Hu and colleagues report a population-based, case-control study of 64,000 women participating in the Cancer Risk Estimates Related to Susceptibility (CARRIER) Consortium. Using a custom-designed panel of 28 cancer predisposition genes, the researchers evaluated prevalence of germline pathogenic variants and their association with risk for developing breast cancer. Twelve genes had an established association with breast cancer risk (e.g., BRCA1, BRCA2, PALB2), and 16 were candidate predisposition genes.
The absolute lifetime risk for developing breast cancer for commonly mutated genes was approximately 50% for BRCA1 and BRCA2, 30% for PALB2, 25% for CHEK2, and 20% for ATM. Of note, women with ATM and CHEK2 mutations are more likely to develop…
Reviewing Author
DisclosuresConsultant/Advisory BoardLilly; AstraZeneca; Gilead
Grant/Research SupportBreast Cancer Research Foundation
Editorial BoardsClinical Breast Cancer; Oncology; Annals of Surgery; Breast Cancer Research and Treatment
Leadership Positions in Professional SocietiesNational Comprehensive Cancer Network (Chair, Breast Cancer Panel); American Board of Internal Medicine (Medical Oncology Board)
DisclosuresConsultant/Advisory BoardLilly; AstraZeneca; Gilead
Grant/Research SupportBreast Cancer Research Foundation
Editorial BoardsClinical Breast Cancer; Oncology; Annals of Surgery; Breast Cancer Research and Treatment
Leadership Positions in Professional SocietiesNational Comprehensive Cancer Network (Chair, Breast Cancer Panel); American Board of Internal Medicine (Medical Oncology Board)