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

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.

Human mutation - 1 Oct 2010

Mastrocola Adam S, Heinen Christopher D

Abstract excerpt

The DNA mismatch repair (MMR) pathway is essential in maintaining genomic stability through its role in DNA repair and the checkpoint response. Loss of DNA MMR underlies the hereditary cancer disease Lynch Syndrome (LS). Germline mutations in MSH2 account for approximately 40% of LS patients and of these, 18% are missense variants. One important clinical challenge has been discriminating between missense variants...

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Neoplasms, Hereditary Nonpolyposis
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Repair

Share to Genes, cdc

Share to Germ-Line Mutation

Share to Mutation, Missense

Share to MutS Homolog 2 Protein

Share to Protein Subunits

Source

Open in PubMed Open full text

Identifiers

PMID: 20672385
DOI: 10.1002/humu.21333
PMCID: PMC2947597

Genes

MSH2

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.PMID 20672385Read ↗

Functional interrogation of Lynch syndrome‐associated MSH2 missense variants via CRISPR‐Cas9 gene editing in human embryonic stem cellsSemantic proximity Read ↗

Functional Interrogation of Lynch Syndrome Associated <i>MSH2</i> Missense Variants Using CRISPR-Cas9 Gene Editing in Human Embryonic Stem CellsSemantic proximity Read ↗

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.Semantic proximity Read ↗

Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Semantic proximity Read ↗

Truncation of the MSH2 C-terminal 60 amino acids disrupts effective DNA mismatch repair and is causative for Lynch syndrome.Semantic proximity Read ↗

The changing landscape of Lynch syndrome due to PMS2 mutations.Semantic proximity Read ↗

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.Semantic proximity Read ↗

Functional analysis of MSH2 unclassified variants found in suspected Lynch syndrome patients reveals pathogenicity due to attenuated mismatch repair.Semantic proximity Read ↗

Mechanisms of pathogenicity in human MSH2 missense mutants.Semantic proximity Read ↗

Functional analysis of HNPCC-related missense mutations in MSH2.Semantic proximity Read ↗

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.Semantic proximity Read ↗

Classification of MSH6 Variants of Uncertain Significance Using Functional AssaysSemantic proximity Read ↗

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