Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

doi:10.1038/ng.569

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Article

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

Nature genetics - 1 May 2010

Meindl Alfons, Hellebrand Heide, Wiek Constanze, Erven Verena, Wappenschmidt Barbara, Niederacher Dieter, Freund Marcel, Lichtner Peter, Hartmann Linda, Schaal Heiner, Ramser Juliane, Honisch Ellen, Kubisch Christian, Wichmann Hans E, Kast Karin, Deissler Helmut, Engel Christoph, Müller-Myhsok Bertram, Neveling Kornelia, Kiechle Marion, Mathew Christopher G, Schindler Detlev, Schmutzler Rita K, Hanenberg Helmut

Abstract excerpt

Germline mutations in a number of genes involved in the recombinational repair of DNA double-strand breaks are associated with predisposition to breast and ovarian cancer. RAD51C is essential for homologous recombination repair, and a biallelic missense mutation can cause a Fanconi anemia-like phenotype. In index cases from 1,100 German families with gynecological malignancies, we identified six monoallelic...

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PMID: 20400964
DOI: 10.1038/ng.569

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RAD51

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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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