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Article

Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.

Familial cancer - 1 Mar 2013

Sourrouille Isabelle, Coulet Florence, Lefevre Jeremie H, Colas Chrystelle, Eyries Mélanie, Svrcek Magali, Bardier-Dupas Armelle, Parc Yann, Soubrier Florent

Abstract excerpt

Some patients happen to have a colorectal cancer with microsatellite instability (MSI), but without any alteration in Mismatch Repair (MMR) system (germline mutation/promoter methylation). We aimed to identify the mechanism of inactivation of MMR genes in those cases. We studied 18 patients with MSI CCR and loss of expression of a MMR protein. DNA was extracted from tumoral and normal colonic material. We studied...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22987205
DOI: 10.1007/s10689-012-9568-9

Genes

MSH2
MLH1

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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