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

D Gareth R Evans12*, Anthony Howell1, Sarah L Ingham13 and Iain Buchan3

Author Affiliations

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

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Breast Cancer Research 2013, 15:401  doi:10.1186/bcr3382

See related research by Rhiem et al.,

Published: 26 February 2013

First paragraph (this article has no abstract)

In the previous issue of Breast Cancer Research, Rhiem and colleagues [1] 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 [2]. 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.