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Breast Cancer Res. 2013 Dec 20;15(6):R120. doi: 10.1186/bcr3589.

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families.

Abstract

RAD51C is an integral part of the DNA double-strand repair through homologous recombination, and monoallelic mutations were found in ~1.3% of BRCA1/2-negative breast cancer (BC) and/or ovarian cancer (OC) families. Several studies confirmed the occurrence of RAD51C mutations predominantly in BC and/or OC families, although with varying frequencies, clearly establishing RAD51C as a cancer-predisposing gene. There is ongoing debate whether pathogenic RAD51C alterations increase the relative risk for BC in addition to that for OC, which was estimated to be 5.88 (95% confidence interval = 2.91 to 11.88; P = 7.65 × 10(-7)).

PMID:
24359560
PMCID:
PMC3978715
DOI:
10.1186/bcr3589
[Indexed for MEDLINE]
Free PMC Article

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