Abstract
Polygenic risk scores (PRS) have been shown to predict breast cancer risk in European women, but their utility in Asian women is unclear. Here we evaluate the best performing PRSs for European-ancestry women using data from 17,262 breast cancer cases and 17,695 controls of Asian ancestry from 13 case-control studies, and 10,255 Chinese women from a prospective cohort (413 incident breast cancers). Compared to women in the middle quintile of the risk distribution, women in the highest 1% of PRS distribution have a ~2.7-fold risk and women in the lowest 1% of PRS distribution has ~0.4-fold risk of developing breast cancer. There is no evidence of heterogeneity in PRS performance in Chinese, Malay and Indian women. A PRS developed for European-ancestry women is also predictive of breast cancer risk in Asian women and can help in developing risk-stratified screening programmes in Asia.
Highlights
To compare the Polygenic risk scores (PRS) performance with that in women of European ancestry, we recalculated the PRS using these sets of single nucleotide polymorphisms (SNPs) in the validation and prospective cohorts of European women described in Mavaddat et al.[7]
To date, the utility of incorporating common genetic variants into breast cancer risk prediction models has predominantly been investigated in women of European descent
Given the difficulties of defining population-specific PRS, a more practical question is whether the PRS developed using data from women of European ancestry is predictive of risk for women of Asian ancestry
Summary
We evaluate the predictive ability of the 313-SNP PRS developed for European women for predicting breast cancer risk in Asian women, using data from 17,262 cases and 17,695 control women of Asian ancestry, from 10 studies based in Asian countries and three studies from North America, participating in the Breast Cancer Association Consortium (BCAC); and 10,255 Chinese women from a prospective cohort. We show that European ancestry-based PRS is predictive of breast cancer risk in Asian women.
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