BOADICEA: a comprehensive breast cancer risk prediction model incorporating genetic and nongenetic risk factors.

ABSTRACT:

Purpose

Breast cancer (BC) risk prediction allows systematic identification of individuals at highest and lowest risk. We extend the Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) risk model to incorporate the effects of polygenic risk scores (PRS) and other risk factors (RFs).

Methods

BOADICEA incorporates the effects of truncating variants in BRCA1, BRCA2, PALB2, CHEK2, and ATM; a PRS based on 313 single-nucleotide polymorphisms (SNPs) explaining 20% of BC polygenic variance; a residual polygenic component accounting for other genetic/familial effects; known lifestyle/hormonal/reproductive RFs; and mammographic density, while allowing for missing information.

Results

Among all factors considered, the predicted UK BC risk

SUBMITTER: Lee A 

PROVIDER: S-EPMC6687499 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature