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Article

Sporadic endometrial adenocarcinoma with MMR deficiency due to biallelic MSH2 somatic mutations.

Familial cancer - 1 Apr 2018

Buecher Bruno, De Pauw Antoine, Bazire Louis, Houdayer Claude, Fievet Alice, Moncoutier Virginie, Farkhondeh Fereshteh, Melaabi Samia, Lyonnet Dominique Stoppa, Golmard Lisa

Abstract excerpt

The invalidation of the Mismatch Repair (MMR) system is responsible for a so-called "deficient MMR" phenotype (dMMR) characterized by microsatellite instability and abnormal pattern of expression of MMR proteins in tumor tissue. This phenotype occurs in at least 20% of sporadic endometrial adenocarcinomas by epigenetic silencing of MLH1 gene. It is also observed in virtually all tumors occurring in patients with...

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Source

Identifiers

PMID: 28819700
DOI: 10.1007/s10689-017-0032-8

Genes

MSH2
MLH1
MSH6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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