Monoallelic deleterious MUTYH mutations generate colorectal cancer: A case report.

ABSTRACT: Here we reported a particular case of MUTYH-associated polyposis (MAP) that had only one rare heterozygous variant, but some particular clinical manifestations contributed to occur in this male patient by only one defective MUTYH allele were worth of further investigation. We reported a case of MAP. It is about a 33-year-old man with chief complaints of hematochezia who had multiple polyps that were found in his colon via colonoscopy. He followed his doctor's advice and performed a genetic analysis examination. Germline test was positive for a major heterozygous variant: chr1:45800165 on the MUTYH gene. MUTYH gene sequence analysis confirmed the following heterozygous variant: c.55CT (p.R19X) in exon 2 (ClinVar NM_001128425). Unfortunately, his mother and daughter have the ILK variant acco

SUBMITTER: Zhao B 

PROVIDER: S-EPMC10686896 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature