Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers

BOADICEA is a multifactorial breast cancer risk model for predicting the future breast cancer risk based on the joint effects of cancer family history, lifestyle, hormonal and reproductive risk factors, polygenic risk score and rare pathogenic variants. Here, Yang et al validated  for the first time the full multifactorial model in 1,614 BRCA1 and 1,365 BRCA2 PV carriers, demonstrating that BOADICEA is well calibrated, predicts risks accurately in different risk categories and discriminates well between affected and unaffected BRCA1/2 carriers. Implemented in BOADICEA allows for more personalised breast cancer risk assessment for BRCA1/2 carriers. (By Dr Xin Yang, )

(Visited 15 times, 1 visits today)