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

@article{Meindl2010GermlineMI,
  title={Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene},
  author={Alfons Meindl and Heide Hellebrand and Constanze Wiek and Verena Erven and Barbara Wappenschmidt and D Niederacher and Marcel Freund and Peter Lichtner and Linda S. Hartmann and Heiner Schaal and Juliane Ramser and Ellen Honisch and Christian Kubisch and Hans E Wichmann and Karin Kast and Helmut Deissler and Christoph Engel and Bertram M{\"u}ller-Myhsok and Kornelia Neveling and Marion Kiechle and Christopher G Mathew and Detlev Schindler and Rita Katharina Schmutzler and Helmut Hanenberg},
  journal={Nature Genetics},
  year={2010},
  volume={42},
  pages={410-414}
}
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 pathogenic mutations in RAD51C that confer an increased risk for breast and ovarian… CONTINUE READING
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