Differences in polygenic score distributions in European ancestry populations: implications for breast cancer risk prediction
Yiangou, K.; Mavaddat, N.; Dennis, J.; Zanti, M.; Wang, Q.; Bolla, M. K.; Abubakar, M.; Ahearn, T. U.; Andrulis, I. L.; Anton-Culver, H.; Antonenkova, N. N.; Arndt, V.; Aronson, K. J.; Augustinsson, A.; Baten, A.; Behrens, S.; Bermisheva, M.; Berrington de Gonzalez, A.; Bialkowska, K.; Boddicker, N.; Bodelon, C.; Bogdanova, N. V.; Bojesen, S. E.; Brantley, K. D.; Brauch, H.; Brenner, H.; Camp, N. J.; Canzian, F.; Castelao, J. E.; Cessna, M. H.; Chang-Claude, J.; Chenevix-Trench, G.; Chung, W. K.; Collaborators, N.; Colonna, S. V.; Couch, F. J.; Cox, A.; Cross, S. S.; Czene, K.; Daly, M. B.; De
Show abstract
The 313-variant polygenic risk score (PRS313) provides a promising tool for breast cancer risk prediction. However, evaluation of the PRS313 across different European populations which could influence risk estimation has not been performed. Here, we explored the distribution of PRS313 across European populations using genotype data from 94,072 females without breast cancer, of European-ancestry from 21 countries participating in the Breast Cancer Association Consortium (BCAC) and 225,105 female participants from the UK Biobank. The mean PRS313 differed markedly across European countries, being highest in south-eastern Europe and lowest in north-western Europe. Using the overall European PRS313 distribution to categorise individuals leads to overestimation and underestimation of risk in some individuals from south-eastern and north-western countries, respectively. Adjustment for principal components explained most of the observed heterogeneity in mean PRS. Country-specific PRS distributions may be used to calibrate risk categories in individuals from different countries.
Matching journals
The top 10 journals account for 50% of the predicted probability mass.
Similar papers in this journal
- Common variants in breast cancer risk loci predispose to distinct tumor subtypes 95%
- Comparative validation of the BOADICEA and Tyrer-Cuzick breast cancer risk models incorporating classical risk factors and polygenic risk in a population-based prospective cohort 94%
- A genome-wide association study of mammographic texture variation 93%
Similar papers in this journal
- The mediating role of mammographic density in the protective effect of early-life adiposity on breast cancer risk: a multivariable Mendelian randomization study 94%
- Identifying therapeutic targets for cancer: 2,094 circulating proteins and risk of nine cancers 94%
- Cross-Cancer Evaluation of Polygenic Risk Scores for 17 Cancer Types in Two Large Cohorts 94%
Similar papers in this journal
- Segregation analysis of 17,425 population-based breast cancer families: evidence for genetic susceptibility and risk prediction 96%
- The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data 94%
- Cancer PRSweb - an Online Repository with Polygenic Risk Scores (PRS) for Major Cancer Traits and Their Phenome-wide Exploration in Two Independent Biobanks 94%
Similar papers in this journal
Similar papers in this journal
- Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry: a Cross-Ancestry Approach 96%
- Imputed Gene Expression Risk Scores: A Functionally Informed Component of Polygenic Risk 92%
- Evaluating and implementing block jackknife resampling Mendelian randomization to mitigate bias induced by overlapping samples 92%
"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.