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

A frame-shift mutation of <i>PMS2</i> is a widespread cause of Lynch syndrome

4 Jan 2008

Abstract excerpt

BACKGROUND: When compared to the other mismatch repair genes involved in Lynch syndrome, the identification of mutations within PMS2 has been limited (<2% of all identified mutations), yet the immunohistochemical analysis of tumour samples indicates that approximately 5% of Lynch syndrome cases are caused by PMS2. This disparity is primarily due to complications in the study of this gene caused by interference...

Read the complete abstract on PubMed

Topics

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

Share to BRCA gene mutations in cancer
Share to Genetic factors in colorectal cancer
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18178629
DOI: 10.1136/jmg.2007.056150

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A frame-shift mutation of <i>PMS2</i> is a widespread cause of Lynch syndromePMID 18178629Read ↗

Clinical analysis of<i>PMS2</i>: mutation detection and avoidance of pseudogenesSemantic proximity Read ↗

In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch syndrome risk.Semantic proximity Read ↗

Misclassification of a frequent loss of function variant from<i>PMS2CL</i>pseudogene as a<i>PMS2</i>variant in Brazilian patientsSemantic proximity Read ↗

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.Semantic proximity Read ↗

The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations.Semantic proximity Read ↗

Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.Semantic proximity Read ↗

Recurrent and founder mutations in the PMS2 gene.Semantic proximity Read ↗

Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome.Semantic proximity Read ↗

Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.Semantic proximity Read ↗

Germline <i><scp>PMS</scp>2</i> mutation screened by mismatch repair protein immunohistochemistry of colorectal cancer in JapanSemantic proximity Read ↗

Mutation deep within an intron of MSH2 causes Lynch syndrome.Semantic proximity Read ↗

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada.Semantic proximity Read ↗

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