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

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.

Gastroenterology - 1 Aug 2008

Ali Mohsin, Kim Hyeja, Cleary Sean, Cupples Claire, Gallinger Steven, Bristow Robert

Abstract excerpt

BACKGROUND & AIMS: The human mutyh gene encodes a base excision repair protein that prevents G:C to T:A transversions in DNA. Biallelic mutations in this gene are associated with recessively inherited familial colorectal cancer. The aim of this study was to characterize the functional activity of mutant-MUTYH and single-nucleotide polymorphism (SNP)-MUTYH proteins involving familial colorectal cancer. METHODS:...

Read the complete abstract on PubMed

Topics

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

Share to Adenine
Share to Adenomatous Polyposis Coli
Share to DNA Glycosylases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Repair

Share to Electrophoresis, Polyacrylamide Gel

Share to Frameshift Mutation

Share to Gene Expression Regulation, Enzymologic

Share to Mutagenesis, Site-Directed

Source

Open in PubMed Open full text

Identifiers

PMID: 18534194
DOI: 10.1053/j.gastro.2008.04.035
PMCID: PMC2761659

Genes

MUTYH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Characterization of mutant MUTYH proteins associated with familial colorectal cancer.PMID 18534194Read ↗

Functional characterization of two human MutY homolog (hMYH) missense mutations (R227W and V232F) that lie within the putative hMSH6 binding domain and are associated with hMYH polyposisSemantic proximity Read ↗

Role of MUTYH in human cancer.Semantic proximity Read ↗

Clinicopathological and genotypic characteristics of colorectal cancer patients carrying a germline MUTYH mutation.Semantic proximity Read ↗

Characteristics of MUTYH variants in Japanese colorectal polyposis patients.Semantic proximity Read ↗

Functional Evaluation of Nine Missense-Type Variants of the Human DNA Glycosylase Enzyme MUTYH in the Japanese Population.Semantic proximity Read ↗

Identification of critical residues required for the mutation avoidance function of human MutY (hMYH) and implications in colorectal cancer.Semantic proximity Read ↗

Analysis of MUTYH genotypes and colorectal phenotypes in patients With MUTYH-associated polyposis.Semantic proximity Read ↗

MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.Semantic proximity Read ↗

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.Semantic proximity Read ↗

Germline haploinsufficiency for the base excision repair gene <i>MUTYH</i> causes mutational signature SBS18 in multiple tumour types, specifically leading to an increased risk of colorectal cancerSemantic proximity Read ↗

Adenine removal activity and bacterial complementation with the human MutY homologue (MUTYH) and Y165C, G382D, P391L and Q324R variants associated with colorectal cancer.Semantic proximity Read ↗

The thorough screening of the MUTYH gene in a large French cohort of sporadic colorectal cancers.Semantic proximity Read ↗

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