title: Contralateral breast cancer risk in BRCA1/2-positive families needs to be adjusted for phenocopy rates particularly in second-degree untested relatives.
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.
authors: D Gareth R
authors: DG
authors: Evans
authors: Anthony
authors: A
authors: Howell
authors: Sarah L
authors: SL
authors: Ingham
authors: Iain
authors: I
authors: Buchan
mesh_terms: D019313:BRCA1 Protein / Q000235:genetics; D024682:BRCA2 Protein / Q000235:genetics; D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D010375:Pedigree; D012307:Risk Factors
chemical_list: D019313:BRCA1 Protein; D024682:BRCA2 Protein; C551750:BRCA2 protein, human