Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

doi:10.1038/ejhg.2013.278

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Article

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene.

European journal of human genetics : EJHG - 1 Aug 2014

Degrolard-Courcet Emilie, Sokolowska Joanna, Padeano Marie-Martine, Guiu Séverine, Bronner Myriam, Chery Carole, Coron Fanny, Lepage Côme, Chapusot Caroline, Loustalot Catherine, Jouve Jean-Louis, Hatem Cyril, Ferrant Emmanuelle, Martin Laurent, Coutant Charles, Baurand Amandine, Couillault Gérard, Delignette Alexandra, El Chehadeh Salima, Lizard Sarab, Arnould Laurent, Fumoleau Pierre, Callier Patrick, Mugneret Francine, Philippe Christophe, Frebourg Thierry, Jonveaux Philippe, Faivre Laurence

Abstract excerpt

Fanconi anaemia (FA) is characterized by progressive bone marrow failure, congenital anomalies, and predisposition to malignancy. In a minority of cases, FA results from biallelic FANCD1/BRCA2 mutations that are associated with early-onset leukaemia and solid tumours. Here, we describe the clinical and molecular features of a remarkable family presenting with multiple primary colorectal cancers (CRCs) without...

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PMID: 24301060
DOI: 10.1038/ejhg.2013.278
PMCID: PMC4350595

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BRCA2

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