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Article

Long-range PCR facilitates the identification of PMS2-specific mutations.

Human mutation - 1 May 2006

Clendenning Mark, Hampel Heather, LaJeunesse Jennifer, Lindblom Annika, Lockman Jan, Nilbert Mef, Senter Leigha, Sotamaa Kaisa, de la Chapelle Albert

Abstract excerpt

Mutations within the DNA mismatch repair gene, "postmeiotic segregation increased 2" (PMS2), have been associated with a predisposition to hereditary nonpolyposis colorectal cancer (HNPCC; Lynch syndrome). The presence of a large family of highly homologous PMS2 pseudogenes has made previous attempts to sequence PMS2 very difficult. Here, we describe a novel method that utilizes long-range PCR as a way to...

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Topics

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

Share to Adenosine Triphosphatases

Share to Carrier Proteins

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Repair Enzymes

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Source

Identifiers

PMID: 16619239
DOI: 10.1002/humu.20318

Genes

PMS2
MLH1

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

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Research trail→

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Long-range PCR facilitates the identification of PMS2-specific mutations.PMID 16619239Read ↗

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

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

Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation.Semantic proximity Read ↗

Improved multiplex ligation-dependent probe amplification analysis identifies a deleterious PMS2 allele generated by recombination with crossover between PMS2 and PMS2CL.Semantic proximity Read ↗

Detecting clinically actionable variants in the 3′ exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogeneSemantic proximity Read ↗

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

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Isolated Loss of PMS2 Immunohistochemical Expression is Frequently Caused by Heterogenous MLH1 Promoter Hypermethylation in Lynch Syndrome Screening for Endometrial Cancer Patients.Semantic proximity Read ↗

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.Semantic proximity Read ↗

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

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