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Article

The hMSH2(M688R) Lynch syndrome mutation may function as a dominant negative.

Carcinogenesis - 1 Sept 2012

Martín-López Juana V, Barrios Ysamar, Medina-Arana Vicente, Andújar Miguel, Lee Sanghee, Gu Liya, Li Guo-Min, Rüschoff Josef, Salido Eduardo, Fishel Richard

Abstract excerpt

The hMSH2(M688R) mismatch repair (MMR) gene mutation has been found in five large families from Tenerife, Spain, suggesting it is a Lynch syndrome or hereditary non-polyposis colorectal cancer (LS/HNPCC) founder mutation. In addition to classical LS/HNPCC tumors, these families present with a high incidence of central nervous system (CNS) tumors normally associated with Turcot or constitutional mismatch repair...

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Identifiers

PMID: 22739024
DOI: 10.1093/carcin/bgs199
PMCID: PMC3514906

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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.

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