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

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...

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Détails bibliographiques
Publié dans:Eur J Hum Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Nature Publishing Group 2014
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4350595/
https://ncbi.nlm.nih.gov/pubmed/24301060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.278
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