Germline mutation likelihood in breast cancer patients: Navigating the nuances of multi-gene panel testing
Positive rates increased in individuals meeting various NCCN BRCA1/2 testing criteria as panel size increased, with the exception of the TNBC criterion and the family history of male BC criterion.
Our findings that mutation likelihood based on clinical presentation differ by panel highlight the need to tailor risk assessment for MGPT rather than relying on tools designed for single gene testing.
Continued exploration of panel and phenotype-specific detection rates will improve pre-test risk counseling in the MGPT setting.
Title: Germline mutation likelihood in breast cancer patients: Navigating the nuances of multi-gene panel testing
Authors: Carrie Horton; Lily Hoang; Kelly Fulk; Holly LaDuca