Genetic Testing for Breast Cancer: How Effective Are Guidelines?

National Comprehensive Cancer Network guidelines for multigene panel testing miss nearly half of patients with actionable variants.

To evaluate the effectiveness of the National Comprehensive Cancer Network (NCCN) guidelines for using 80-gene panel testing to identify breast cancer patients with pathogenic variants in breast and nonbreast cancers, investigators conducted a multicenter cohort study of 959 breast cancer patients, half of whom met the 2017 NCCN criteria for breast cancer genetic testing and half of whom did not.

Overall, 8.65% of patients had a likely or known pathogenic variant. Among these patients, actionable variants for breast and nonbreast cancers were found in a similar number of those who met or did not meet the NCCN guidelines for genetic testing (9.4% and 7.9%, respectively). If only the 11 breast cancer–related genes were evaluated, 6.3% of patie…

Reviewing Author

Henry Mark Kuerer, MD, PhD, FACS

Disclosures

Speaker's BureauPhysicians’ Education Resource, LLC

RoyaltiesMcGraw-Hill Professional; UpToDate, Inc.

Editorial BoardsAnnals of Surgical Oncology

Leadership Positions in Professional SocietiesAmerican Society of Breast Surgeons (Chair, Publications Committee)