Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment

“Multigene testing of women who tested negative for BRCA1 and BRCA2 found some of them harbored other harmful genetic mutations—most commonly, moderate-risk breast and ovarian cancer genes, as well as Lynch syndrome genes (which increase the risk of ovarian cancer)—according to an article by Desmond et al in JAMA Oncology.

“Multigene panel genetic tests are increasingly recommended for patients evaluated for a predisposition to hereditary breast/ovarian cancer. However, the rapid introduction of these tests has raised concerns, because many of the tested genes are low- to moderate-risk genes for which consensus management guidelines have not been introduced or were introduced only very recently, according to the study background.

“Leif W. Ellisen, MD, PhD, of Massachusetts General Hospital Cancer Center, and coauthors wanted to determine how often multigene panel testing would identify mutations that warranted some clinical action among women appropriately tested but lacking BRCA1 and BRCA2 mutations.”