Expanding BRCA1/2 testing criteria to include other confirmed breast and ovarian cancer susceptibility genes
Breast cancer susceptibility gene mutations are detected in 8.6% of breast cancer patients undergoing multigene panel testing who meet BRCA1/2 testing criteria (3.4% in BRCA1/2 and 5.2% in other genes).
Ovarian cancer susceptibility gene mutations are detected in 13.0% of OC patients undergoing multigene panel testing (8.0% for BRCA1/2 and 5.0% in other genes).
Inclusion of additional risk genes increases detection rate for BC and OC patients meeting BRCA1/2 testing criteria by 152.9% and 62.5%, respectively
Title: Expanding BRCA1/2 testing criteria to include other confirmed breast and ovarian cancer susceptibility genes
Authors: Fergus J. Couch; Hermela Shimelis; Jill Dolinsky; Eric C. Polley; Carrie Horton; Amal Yussuf; Lily Hoang; Jenna Lilyquist; Virginia Speare; Chunling Hu; Steven N. Hart; Holly LaDuca