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 Dieter Niederacher and Marcel Freund and Peter Lichtner and Linda Hartmann and Heiner Schaal and Juliane Ramser and Ellen Honisch and Christian Kubisch and H Erich 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 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… 

Germline RAD51C mutations in ovarian cancer susceptibility

TLDR
The results confirm that RAD51C is a susceptibility gene for ovarian and BC and that this gene should be screened for mutations in families with multiple BC/OC.

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing

TLDR
A low prevalence of RAD51C mutations with an exception for some founder populations is suggested and this observation is in favor of the rare allele hypothesis in the debate over the nature of the genetic contribution to individual susceptibility to breast and ovarian cancer.

RAD51C germline mutations found in Spanish site-specific breast cancer and breast-ovarian cancer families

TLDR
It is suggested that RAD51C testing should be offered to hereditary breast and/or ovarian cancer families without selecting for specific cancer origin, and prophylactic bilateral salpingo-ophorectomy in premenopausal RAD 51C mutation carriers is recommended.

Screening RAD51C nucleotide alterations in patients with a family history of breast and ovarian cancer

It has been reported that one biallelic missense mutation in the RAD51C gene was found in a Fanconi anemia-like disorder and six monoallelic pathogenic mutations were identified in 480 BRCA1/2

RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families

BRCA1 and BRCA2 are the most well-known breast cancer susceptibility genes. Additional genes involved in DNA repair have been identified as predisposing to breast cancer. One such gene, RAD51C, is

Germline mutation in the RAD51B gene confers predisposition to breast cancer

TLDR
This study identified the first RAD51B mutation in a breast and ovarian cancer family and is the first report of XRCC3 mutation analysis in breast and Ovarian cancer.

RAD51C germline mutations in Chinese women with familial breast cancer

TLDR
This study screened the entire coding regions and exon–intron boundaries of the RAD51C gene in 273 Chinese women with familial breast cancer who do not carry mutations in BRCA1 and BRCa2 genes by polymerase chain reaction (PCR)-sequencing and detected eight germline sequence variants in the RAD 51C gene.

Germline mutations in RAD51C in Jewish high cancer risk families

TLDR
Germline mutations in RAD51C contribute marginally to breast and ovarian cancer susceptibility in ethnically diverse, Jewish high risk families.

RAD51 and Breast Cancer Susceptibility: No Evidence for Rare Variant Association in the Breast Cancer Family Registry Study

TLDR
The data suggest that RAD51 tolerates so little dysfunctional sequence variation that rare variants in the gene contribute little, if anything, to breast cancer susceptibility.

Mutation screening of RAD51C in high-risk breast and ovarian cancer families

TLDR
It is suggested that RAD51C mutations are rare events among high-risk breast cancer and breast/ovarian cancer families and large population-based studies will be needed to reliably assess the prevalence and penetrance of inactivating mutations in the RAD 51C susceptibility gene.
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