Mutation of the RAD51C gene in a Fanconi anemia-like disorder

Fiona Vaz, Helmut Hanenberg, Beatrice Schuster, Karen Barker, Constanze Wiek, Verena Erven, Kornelia Neveling, Daniela Endt, Ian Kesterton, Flavia Autore, Franca Fraternali, Marcel Freund, Linda Hartmann, David Grimwade, Roland G. Roberts, Heiner Schaal, Shehla Mohammed, Nazneen Rahman, Detlev Schindler, Christopher G. Mathew

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285 Scopus citations


Fanconi anemia (FA) is a rare chromosomal-instability disorder associated with a variety of developmental abnormalities, bone marrow failure and predisposition to leukemia and other cancers. We have identified a homozygous missense mutation in the RAD51C gene in a consanguineous family with multiple severe congenital abnormalities characteristic of FA. RAD51C is a member of the RAD51-like gene family involved in homologous recombination-mediated DNA repair. The mutation results in loss of RAD51 focus formation in response to DNA damage and in increased cellular sensitivity to the DNA interstrand cross-linking agent mitomycin C and the topoisomerase-1 inhibitor camptothecin. Thus, biallelic germline mutations in a RAD51 paralog are associated with an FA-like syndrome.

Original languageEnglish (US)
Pages (from-to)406-409
Number of pages4
JournalNature genetics
Issue number5
StatePublished - May 2010

ASJC Scopus subject areas

  • Genetics

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    Vaz, F., Hanenberg, H., Schuster, B., Barker, K., Wiek, C., Erven, V., Neveling, K., Endt, D., Kesterton, I., Autore, F., Fraternali, F., Freund, M., Hartmann, L., Grimwade, D., Roberts, R. G., Schaal, H., Mohammed, S., Rahman, N., Schindler, D., & Mathew, C. G. (2010). Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nature genetics, 42(5), 406-409.