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Sci Rep. 2017 Jan 18;7:40963. doi: 10.1038/srep40963.

Association of Genome-Wide Association Study (GWAS) Identified SNPs and Risk of Breast Cancer in an Indian Population.

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Centre for Cancer Epidemiology, Tata Memorial Centre, Mumbai, India.
Division of Cancer Epidemiology &Genetics, National Cancer Institute, Bethesda, USA.
Department of Biostatistics, Bloomberg School of Public Health, Johns Hopkins University, USA.
Department of Oncology, School of Medicine, Johns Hopkins University, USA.
Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada.
Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Institute For Translational Epidemiology, Mount Sinai Hospital, One Gustave L.Levy Place New York, NY, USA.
Genetic Epidemiology Group, International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372 Lyon CEDEX, France.
Department of Surgical Oncology, Tata Memorial Hospital, Mumbai, India.


To date, no studies have investigated the association of the GWAS-identified SNPs with BC risk in Indian population. We investigated the association of 30 previously reported and replicated BC susceptibility SNPs in 1,204 cases and 1,212 controls from a hospital based case-control study conducted at the Tata Memorial Hospital, Mumbai. As a measure of total susceptibility burden, the polygenic risk score (PRS) for each individual was defined by the weighted sum of genotypes from 21 independent SNPs with weights derived from previously published estimates of association odds-ratios. Logistic regression models were used to assess risk associated with individual SNPs and overall PRS, and stratified by menopausal and receptor status. A total of 11 SNPs from eight genomic regions (FGFR2, 9q31.2, MAP3K, CCND1, ZM1Z1, RAD51L11, ESR1 and UST) showed statistically significant (p-value ≤ 0.05) evidence of association, either overall or when stratified by menopausal status or hormone receptor status. BC SNPs previously identified in Caucasian population showed evidence of replication in the Indian population mainly with respect to risk of postmenopausal and hormone receptor positive BC.

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