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

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

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)).

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Breast Neoplasms / genetics*
  • Female
  • Gene Deletion
  • Humans
  • Ovarian Neoplasms / genetics*
  • Pedigree
  • Rad51 Recombinase / genetics*

Substances

  • RAD51 protein, human
  • Rad51 Recombinase