Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives
1 Genesis Breast Cancer Prevention Centre, University Hospital of South Manchester NHS Trust, Southmoor Road, Wythenshawe, Manchester, M23 9LT, UK
2 Genetic Medicine, The University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust, St. Mary's Hospital, Oxford Road, Manchester, M13 9WL, UK
3 NIBHI, Centre for Health Informatics, Institute of Population Health, Jean McFarlane Building, The University of Manchester, Oxford Road, Manchester, M13 9PL, UK
Breast Cancer Research 2013, 15:401 doi:10.1186/bcr3382
See related research by Rhiem et al., http://breast-cancer-research.com/content/14/6/R156Published: 26 February 2013
First paragraph (this article has no 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.