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

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.

Journal of medical genetics - 1 Jul 2020

Wang Qing, Leclerc Julie, Bougeard Gaëlle, Olschwang Sylviane, Vasseur Stéphanie, Cassinari Kévin, Boidin Denis, Lefol Cédrick, Naïbo Pierre, Frébourg Thierry, Buisine Marie Pierre, Baert-Desurmont Stéphanie

Abstract excerpt

BACKGROUND: Heterozygous germline PMS2 variants are responsible for about 5% of Lynch syndrome (LS) but their prevalence is most likely underestimated because of complicated routine screening caused by highly homologous pseudogenes. Consequently, there is limited knowledge on the implication of the PMS2 gene in LS. METHODS: We report 200 PMS2 heterozygous variants identified in 195 French patients, including 112...

Read the complete abstract on PubMed

Topics

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

Share to Colorectal Neoplasms
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to DNA Mismatch Repair

Share to France

Share to Germ-Line Mutation

Share to Microsatellite Instability

Share to Mismatch Repair Endonuclease PMS2

Source

Identifiers

PMID: 31992580
DOI: 10.1136/jmedgenet-2019-106256

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome.PMID 31992580Read ↗

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

Exome sequencing in a Swedish family with PMS2 mutation with varying penetrance of colorectal cancer: investigating the presence of genetic risk modifiers in colorectal cancer risk.Semantic proximity Read ↗

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

Clinical and Molecular Characterization of Brazilian Patients Suspected to Have Lynch SyndromeSemantic proximity Read ↗

Cancer Risks for PMS2-Associated Lynch Syndrome.Semantic proximity Read ↗

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

Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk.Semantic proximity Read ↗

Adenomas Are Frequent in PMS2 Lynch Syndrome patients but Rarely Mismatch Repair DeficientSemantic 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 ↗

Molecular Background of Colorectal Tumors From Patients With Lynch Syndrome Associated With Germline Variants in PMS2Semantic proximity Read ↗

Establishing cancer risks associated with PMS2 germline mutations in Lynch syndrome.Semantic proximity Read ↗

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

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