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Article

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

Gastroenterology - 1 Feb 2006

Hendriks Yvonne M C, Jagmohan-Changur Shantie, van der Klift Heleen M, Morreau Hans, van Puijenbroek Marjo, Tops Carli, van Os Theo, Wagner Anja, Ausems Margreet G F M, Gomez Encarna, Breuning Martijn H, Bröcker-Vriends Annette H J T, Vasen Hans F A, Wijnen Juul Th

Abstract excerpt

BACKGROUND & AIMS: The role of the mismatch repair gene PMS2 in hereditary nonpolyposis colorectal carcinoma (HNPCC) is not fully clarified. To date, only 7 different heterozygous truncating PMS2 mutations have been reported in HNPCC-suspected families. Our aim was to further assess the role of P...

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Topics

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Share to Adaptor Proteins, Signal Transducing
Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Pair Mismatch

Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Share to DNA Repair Enzymes

Share to Genetic Carrier Screening

Share to Mismatch Repair Endonuclease PMS2

Share to MutL Protein Homolog 1

Source

Identifiers

PMID: 16472587
DOI: 10.1053/j.gastro.2005.10.052

Genes

PMS2
MLH1
MSH2
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-16472587-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).PMID 16472587Read ↗

Immunohistochemical analysis reveals high frequency of PMS2 defects in colorectal cancer.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 ↗

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

Germline mutations inPMS2andMLH1in individuals with solitary loss of PMS2 expression in colorectal carcinomas from the Colon Cancer Family Registry CohortSemantic proximity Read ↗

Mutations predisposing to hereditary nonpolyposis colorectal cancer.Semantic proximity Read ↗

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

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

Characteristics of colorectal carcinoma patients with PMS2 defects detected by immunohistochemistrySemantic proximity Read ↗

PMS2 involvement in patients suspected of Lynch syndromeSemantic proximity Read ↗

Homozygous PMS2 deletion causes a severe colorectal cancer and multiple adenoma phenotype without extraintestinal cancer.Semantic proximity Read ↗

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