Ontology highlight
ABSTRACT:
SUBMITTER: Kidambi TD
PROVIDER: S-EPMC7749627 | biostudies-literature | 2018 Dec
REPOSITORIES: biostudies-literature
Kidambi Trilokesh D TD Goldberg Dena D Nussbaum Robert R Blanco Amie A Umetsu Sarah E SE Terdiman Jonathan P JP Lee Jeffrey K JK
Clinical journal of gastroenterology 20180515 6
MUTYH-associated polyposis (MAP) is a hereditary cancer syndrome that is caused by biallelic pathogenic variants in the MUTYH gene and should be evaluated for in patients with an attenuated colonic polyposis phenotype. Monoallelic pathogenic variants in MUTYH are associated with a moderate increased risk of colorectal cancer but not with the polyposis phenotype. We present a case of a patient presenting with multiple colonic adenomatous polyps, whose germline testing revealed a heterozygous path ...[more]