Polymerase Proofreading-Associated Polyposis

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant inherited neoplastic syndrome caused by germline mutations in the DNA polymerase proofreading genes POLE or POLD1. It is characterized by the presence of multiple colorectal adenomatous polyps and is associated with an increased risk of developing colorectal cancer, endometrial cancer, and less often gastric cancer, duodenal cancer, pancreatic cancer, breast cancer, and ovarian cancer.

**Synonyms:** - PPAP