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Article

Diversity of the clinical presentation of the MMR gene biallelic mutations.

Familial cancer - 1 Mar 2014

Bougeard Gaëlle, Olivier-Faivre Laurence, Baert-Desurmont Stéphanie, Tinat Julie, Martin Cosette, Bouvignies Emilie, Vasseur Stéphanie, Huet Frédéric, Couillault Gérard, Vabres Pierre, Le Pessot Florence, Chapusot Caroline, Malka David, Bressac-de Paillerets Brigitte, Tosi Mario, Frebourg Thierry

Abstract excerpt

Constitutional mismatch repair-deficiency, due to biallelic mutations of MMR genes, results in a tumour spectrum characterized by leukaemias, lymphomas, brain tumours and adenocarcinomas of the gastro-intestinal tract, occurring mostly in childhood. We report here two families illustrating the phenotypic diversity associated with biallelic MMR mutations. In the first family, two siblings developed six...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Source

Identifiers

PMID: 24068316
DOI: 10.1007/s10689-013-9676-1

Genes

MSH6
PMS2

Provenance

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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