Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis.

The American surgeon - 1 Dec 2007

Raoof Mustafa, Canter Robert J, Paty Philip B

Abstract excerpt

Germline mutations in the Mutant-Y-homologue (MYH) gene have been linked to an attenuated form of familial adenomatous polyposis in patients who express a wild-type adenomatous polyposis coli gene. However, the diverse clinical manifestations of MYH mutations have not been fully elucidated. We report a case of siblings with identical germline mutations in the MYH gene, one of whom developed a locally advanced...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenocarcinoma
Share to Adenomatous Polyposis Coli

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Glycosylases

Share to Germ-Line Mutation

Share to Phenotype

Source

Identifiers

PMID: 18186383

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variable phenotypic expression of identical MYH germline mutations in siblings with attenuated familial adenomatous polyposis.PMID 18186383Read ↗

Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.Semantic proximity Read ↗

Absence of MutY homologue mutation in patients with multiple sporadic adenomatous polyps in Korea.Semantic proximity Read ↗

Comprehensive analysis of the contribution of germline MYH variation to early-onset colorectal cancer.Semantic proximity Read ↗

Attenuated familial adenomatous polyposis and Muir–Torre syndrome linked to compound biallelic constitutional MYH gene mutationsSemantic proximity Read ↗

Prevalence of MYH germline mutations in Swiss APC mutation-negative polyposis patients.Semantic proximity Read ↗

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors.Semantic proximity Read ↗

Germline mutations of the MYH gene in Korean patients with multiple colorectal adenomas.Semantic proximity Read ↗

Aggressive phenotype of MYH-associated polyposis with jejunal cancer and intra-abdominal desmoid tumor: report of a case.Semantic proximity Read ↗

Role of inherited defects of MYH in the development of sporadic colorectal cancer.Semantic proximity Read ↗

Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.Semantic proximity Read ↗

Multiple Colorectal Adenomas, Classic Adenomatous Polyposis, and Germ-Line Mutations in<i>MYH</i>Semantic proximity Read ↗

Germline mutations of the MYH gene in Japanese patients with multiple colorectal adenomas.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.