Triple-Negative Breast Cancer: Genes Linked to Increased Risk Identified
Posted: Thursday, September 6, 2018
According to a study published in the Journal of the National Cancer Institute, germline testing with hereditary cancer gene panels may benefit women with an elevated risk of triple-negative breast cancer, a population that previously may not be identified from germline genetic testing. Specifically, germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2, and RAD51D seemed to be linked to a high risk of triple-negative breast cancer as well as a higher than 20% lifetime risk for overall breast cancer. In addition, targeted therapeutic strategies may be of benefit to women with these mutations.
“These findings suggest that testing criteria for [triple-negative breast cancer] patients should be expanded to include testing of all breast cancer predisposition genes regardless of age of diagnosis or family history of cancer,” Hermela Shimelis, PhD, of the Department of Laboratory Medicine and Pathology at the Mayo Clinic, and colleagues concluded.
The authors evaluated 10,901 patients with triple-negative breast cancer. Of them, 8,753 underwent clinical germline cancer panel testing, and results for 21 different genes were evaluated. The remaining patients were tested for 17 predisposition genes.
The germline pathogenic variants in BARD1, BRCA1, BRCA2, PALB2, and RAD51D were associated with a high risk of triple-negative breast cancer and a greater than 20% lifetime risk for overall breast cancer. The pathogenic variants in predisposition genes BRIP1, RAD51C, and TP53 were associated a moderate risk of disease. Trends appeared to be similar among white and African American individuals.