Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives

Breast Cancer Res. 2013 Feb 26;15(1):401. doi: 10.1186/bcr3382.

Abstract

In the previous issue of Breast Cancer Research, Rhiem and colleagues report contralateral breast cancer risks in relatives of BRCA1/2 mutation carriers as well as those testing negative. The authors quote 25-year risks of 44.1% for BRCA1 and 33.5% for BRCA2. The risks quoted are somewhat lower than might be inferred from previous estimates in BRCA1/2 carriers, which have been as high as 40% at 10 years . This discrepancy may be explained in part by the decision to exclude index cases in which there may have been testing bias to bilateral disease. However, the authors dismiss a second bias of including many non-carriers in their analysis as 'putative' carriers.

Publication types

  • Letter

MeSH terms

  • BRCA1 Protein / genetics
  • BRCA2 Protein / genetics
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics
  • Breast Neoplasms / pathology
  • Family
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Pedigree
  • Risk Factors

Substances

  • BRCA1 Protein
  • BRCA2 Protein
  • BRCA2 protein, human

Supplementary concepts

  • Breast Cancer, Familial