APC

APC mutations

APC (Adenomatous Polyposis Coli) gene is a tumor suppressor gene located on chromosome 5q21 that plays a crucial role in the development of colorectal cancer. Constitutional mutations (inherited) in the APC gene are responsible for familial adenomatous polyposis or hereditary nonpolyposis colon cancer, and related syndromes. Over 95% of the known mutations in the APC gene are frameshift mutations or nonsense mutations leading to altered or premature termination of protein synthesis.