Phenotypes of patients with APC gene mutations identified via multi-gene cancer panel testing
7.1% of APC+ patients did not meet current NCCN APC testing guidelines.
54.2% of APC+ patients presented with fewer than 100 polyps suggesting that mutation carriers identified on MGPT may be more likely to present with AFAP.
13% of APC mutation carriers with clinical data available had a breast cancer diagnosis, including 2 male breast cancers.
Authors: Tara Namey; Emily Dalton; Carin Espenschied; Amal Yussuf