A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

doi:10.1136/jmedgenet-2014-102934

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

Community

Back to search

Article

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Journal of medical genetics - 1 May 2015

Li Lili, Hamel Nancy, Baker Kristi, McGuffin Michael J, Couillard Martin, Gologan Adrian, Marcus Victoria A, Chodirker Bernard, Chudley Albert, Stefanovici Camelia, Durandy Anne, Hegele Robert A, Feng Bing-Jian, Goldgar David E, Zhu Jun, De Rosa Marina, Gruber Stephen B, Wimmer Katharina, Young Barbara, Chong George, Tischkowitz Marc D, Foulkes William D

Abstract excerpt

BACKGROUND: Inherited mutations in DNA mismatch repair genes predispose to different cancer syndromes depending on whether they are mono-allelic or bi-allelic. This supports a causal relationship between expression level in the germline and phenotype variation. As a model to study this relationship, our study aimed to define the pathogenic characteristics of a recurrent homozygous coding variant in PMS2...

Read the complete abstract on PubMed

Topics

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

Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Brain Neoplasms

Share to Colorectal Neoplasms

Share to DNA Repair Enzymes

Share to Founder Effect

Share to Homozygote

Share to Mismatch Repair Endonuclease PMS2

Share to Neoplastic Syndromes, Hereditary

Source

Open in PubMed

Identifiers

PMID: 25691505
DOI: 10.1136/jmedgenet-2014-102934

Genes

PMS2

Variants

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

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.PMID 25691505Read ↗

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 ↗

Identification of a novel PMS2 alteration c.505C>G (R169G) in trans with a PMS2 pathogenic mutation in a patient with constitutional mismatch repair deficiency.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 ↗

Homozygous germ-line mutation of the PMS2 mismatch repair gene: a unique case report of constitutional mismatch repair deficiency (CMMRD)Semantic proximity Read ↗

A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing.Semantic proximity Read ↗

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

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

Case report: a glioma patient diagnosed as constitutional mismatch repair deficiency syndrome (CMMRD) with a de novo germline variant in PMS2Semantic proximity Read ↗

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

A Validated Highly Sensitive Microsatellite Instability Assay Accurately Identifies Individuals Harboring Biallelic Germline PMS2 Pathogenic Variants in Constitutional Mismatch Repair Deficiency.Semantic proximity Read ↗

Variant Detection in 3' Exons of PMS2 Using Exome Sequencing Data.Semantic proximity Read ↗

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

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