The breast cancer risks associated with common germline mutations in predisposition genes were identified for the general population using a set of studies that make up the CARRIERS consortium. The study findings were presented during a poster discussion at the 2019 San Antonio Breast Cancer Symposium (SABCS) in Texas.1
“As clinical hereditary cancer genetic testing is already provided to many women at increased risk and may soon be offered to all breast cancer patients; population-based risk estimates associated with predisposition gene mutations will be needed for appropriate clinical management of these patients,” the study authors reported.
The current analysis was based on data from 32,247 patients with breast cancer and 32,544 matched individuals who were cancer-free, all of whom supplied germline DNA for sequencing. Among the 24 genes evaluated for mutations, 12 were for breast cancer predisposition genes: ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, and TP53.