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Title: Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese
Authors: Chan, C.H.T
Munusamy, P
Loke, S.Y
Koh, G.L
Yang, A.Z.Y
Law, H.Y 
Yoon, C.S
Wong, C.Y 
Yong, W.S 
Wong, N.S
Ng, R.C.H 
Ong, K.W 
Madhukumar, P 
Oey, C.L
Ho, G.H
Tan, P.H 
Tan, M.H
Ang, P
Yap, Y.S
Lee, A.S.G 
Keywords: adult
breast cancer
cancer risk
case study
cohort analysis
controlled study
disease association
genome-wide association study
major clinical study
middle aged
polygenic risk score
population risk
risk factor
scoring system
single nucleotide polymorphism
Issue Date: 2018
Publisher: Impact Journals LLC
Citation: Chan, C.H.T, Munusamy, P, Loke, S.Y, Koh, G.L, Yang, A.Z.Y, Law, H.Y, Yoon, C.S, Wong, C.Y, Yong, W.S, Wong, N.S, Ng, R.C.H, Ong, K.W, Madhukumar, P, Oey, C.L, Ho, G.H, Tan, P.H, Tan, M.H, Ang, P, Yap, Y.S, Lee, A.S.G (2018). Evaluation of three polygenic risk score models for the prediction of breast cancer risk in Singapore Chinese. Oncotarget 9 (16) : 12796-12804. ScholarBank@NUS Repository.
Abstract: Genome-wide association studies (GWAS) have proven highly successful in identifying single nucleotide polymorphisms (SNPs) associated with breast cancer (BC) risk. The majority of these studies are on European populations, with limited SNP association data in other populations. We genotyped 51 GWAS-identified SNPs in two independent cohorts of Singaporean Chinese. Cohort 1 comprised 1294 BC cases and 885 controls and was used to determine odds ratios (ORs); Cohort 2 had 301 BC cases and 243 controls for deriving polygenic risk scores (PRS). After ageadjustment, 11 SNPs were found to be significantly associated with BC risk. Five SNPs were present in < 1% of Cohort 1 and were excluded from further PRS analysis. To assess the cumulative effect of the remaining 46 SNPs on BC risk, we generated three PRS models: Model-1 included 46 SNPs; Model-2 included 11 statistically significant SNPs; and Model-3 included the SNPs in Model-2 but excluded SNPs that were in strong linkage disequilibrium with the others. Across Models-1, -2 and -3, women in the highest PRS quartile had the greatest ORs of 1.894 (95% CI = 1.157-3.100), 2.013 (95% CI = 1.227-3.302) and 1.751 (95% CI = 1.073-2.856) respectively, suggesting a direct correlation between PRS and BC risk. Given the potential of PRS in BC risk stratification, our findings suggest the need to tailor the selection of SNPs to be included in an ethnic-specific PRS model. © Chan et al.
Source Title: Oncotarget
ISSN: 1949-2553
DOI: 10.18632/oncotarget.24374
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