NTHL1-Related Tumor Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A syndrome inherited in an autosomal recessive manner and caused by germline bi-allelic mutations in NTHL1 gene. It is characterized by the presence of multiple colorectal adenomatous polyps and an increased risk of developing colorectal cancer, breast cancer, endometrial cancer, and less often cancers in other anatomic sites.

**Synonyms:** - Familial Adenomatous Polyposis 3 - NTS