Adapting the BOADICEA breast and ovarian cancer risk models for the ethnically diverse UK population

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Abstract Background BOADICEA is a widely used algorithm for predicting breast and ovarian cancer risks, using a combination of genetic and lifestyle/environmental risk factors. However, it has largely been developed using data from individuals of White ethnicity. Methods We utilised data from multiple sources to derive estimates for the distributions of risk factors and their effect sizes in major UK ethnic groups (White, Black, South Asian, East Asian, and Mixed). We combined these with ethnicity-specific population cancer incidences to update BOADICEA so that it provides ethnicity-specific risk estimates. We also developed and included a method for deriving adjusted polygenic scores for individuals of mixed genetic ancestry. Results The predicted average absolute risks were smaller in all non-White ethnic groups than in Whites, and the risk distributions were narrower. The proportion of women classified as at moderate or high risk of breast or ovarian cancer, according to national guidelines, was considerably smaller in non-White women. Discussion The updated BOADICEA (v7), available in the CanRisk tool ( www.canrisk.org ), is based on estimates more appropriate for non-White women in the UK. Further validation of the model in prospective studies is required. Considering these findings, risk classification guidelines for non- White women may need to be revised.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.