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Article

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

European journal of medical genetics - 1 Mar 2016

Svojgr Karel, Sumerauer David, Puchmajerova Alena, Vicha Ales, Hrusak Ondrej, Michalova Kyra, Malis Josef, Smisek Petr, Kyncl Martin, Novotna Drahuse, Machackova Eva, Jencik Jan, Pycha Karel, Vaculik Miroslav, Kodet Roman, Stary Jan

Abstract excerpt

Fanconi anemia, complementation group D1 with bi-allelic FANCD1 (BRCA2) mutations, is a very rare genetic disorder characterized by early onset of childhood malignancies, including acute leukemia, brain cancer and nephroblastoma. Here, we present a case report of a family with 3 affected children in terms of treatment outcome, toxicity and characterization of the malignancies using comprehensive cytogenetic...

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Identifiers

PMID: 26657402
DOI: 10.1016/j.ejmg.2015.11.013

Genes

BRCA2

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