RAD51C Germline Mutations in Breast and Ovarian Cancer Cases from High-Risk Families
Author Information
Author(s): Clague Jessica, Wilhoite Greg, Adamson Aaron, Bailis Adam, Weitzel Jeffrey N., Neuhausen Susan L.
Primary Institution: Beckman Research Institute at the City of Hope National Medical Center
Hypothesis
Is RAD51C a rare hereditary breast and ovarian cancer susceptibility gene?
Conclusion
The study identified one likely pathogenic mutation and one hypomorphic mutation in RAD51C, supporting its role as a predisposition gene for hereditary breast and ovarian cancers.
Supporting Evidence
- Fifteen DNA sequence variants were identified, including four intronic, one 5′ UTR, one promoter, three synonymous, and six non-synonymous variants.
- RAD51C-G153D was predicted to be likely pathogenic based on functional analyses.
- RAD51C-R214C displayed significant decreases in interaction with both XRCC3 and RAD51B.
Takeaway
Scientists looked at a gene called RAD51C in women with breast and ovarian cancer to see if it could cause these cancers. They found some changes in the gene that might make it more likely for someone to get cancer.
Methodology
Complete sequencing of RAD51C in germline DNA of 286 female breast and/or ovarian cancer cases with a family history of breast and ovarian cancers.
Limitations
No additional samples were available to investigate co-segregation of the mutations with cancer.
Participant Demographics
286 women diagnosed with breast and/or ovarian cancers, with a family history of these cancers.
Statistical Information
P-Value
p<0.001
Statistical Significance
p<0.001
Digital Object Identifier (DOI)
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