Definition

A gene that makes a protein involved in the repair of DNA damage. Mutations (changes) in the NTHL1 gene may keep cells from repairing their damaged DNA, which may cause cancer cells to grow. The mutated NTHL1 gene has been found in some patients with an inherited condition called familial adenomatous polyposis 3 (FAP3). FAP3 causes many polyps (abnormal growths) to form on the inner walls of the colon and rectum, which may lead to colorectal cancer. People who have mutations in NTHL1 may also be at increased risk of developing other types of cancer, including endometrial, small intestine, skin, breast, and pancreatic cancers.