Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

doi:10.1016/j.ejca.2013.12.005

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Article

Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium.

European journal of cancer (Oxford, England : 1990) - 1 Mar 2014

Bakry Doua, Aronson Melyssa, Durno Carol, Rimawi Hala, Farah Roula, Alharbi Qasim Kholaif, Alharbi Musa, Shamvil Ashraf, Ben-Shachar Shay, Mistry Matthew, Constantini Shlomi, Dvir Rina, Qaddoumi Ibrahim, Gallinger Steven, Lerner-Ellis Jordan, Pollett Aaron, Stephens Derek, Kelies Steve, Chao Elizabeth, Malkin David, Bouffet Eric, Hawkins Cynthia, Tabori Uri

Abstract excerpt

BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) is a devastating cancer predisposition syndrome for which data regarding clinical manifestations, molecular screening tools and management are limited. METHODS: We established an international CMMRD consortium and collected comprehensive clinical and genetic data. Molecular diagnosis of tumour and germline biospecimens was performed. A surveillance...

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PMID: 24440087
DOI: 10.1016/j.ejca.2013.12.005

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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