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Article

Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.

Clinical journal of gastroenterology - 1 Dec 2018

Kidambi Trilokesh D, Goldberg Dena, Nussbaum Robert, Blanco Amie, Umetsu Sarah E, Terdiman Jonathan P, Lee Jeffrey K

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29766397
DOI: 10.1007/s12328-018-0870-4
PMCID: PMC7749627

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel variant of unknown significance in MUTYH in a patient with MUTYH-associated polyposis: a case to reclassify.PMID 29766397Read ↗

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