Exploration of germline mutation burden in a hereditary cancer panel cohort identifies gaps in cancer risk associations and testing and management guidelines.
In a large multigene panel testing cohort, genes commonly mutated among patients with breast, colorectal, ovarian, and endometrial cancers generally have established cancer risk estimates and management recommendations for the respective cancer types.
In contrast, genes commonly mutated among pancreatic and prostate cancer patients are lacking associated cancer risk and management data.
Research efforts focused on generating precise cancer risk estimates and expanded testing and management recommendations for more commonly mutated genes will have the largest immediate impact for counseling patients and their families.
Authors: Holly LaDuca; Carin Espenschied; Jill Dolinsky; Laura Panos Smith; Kelly Fulk; Melissa Pronold; Carrie Horton; Fergus J. Couch; Brigette Tippin Davis