rs614367

A hospital-based case-control study in rural and urban India (1,204 cases; 1,212 controls) examined genetic and lifestyle risk factors for breast cancer. Four SNPs in FGFR2 (rs1219648, rs2420946, rs2981575, rs2981582) showed positive associations with breast cancer (ORs 1.32-1.47). Additional SNPs in obesity and metabolic genes (rs374748 in FBN2, rs2922763 in HNF4G, rs2116830 in KCNMA1, rs11121832 in MTHFR, rs16886165 in MAP3K1, rs11594610 in TCF7L2, rs2274459 in MLN) were associated with increased breast cancer risk. Waist-to-hip ratio ≥0.95 showed strong association (OR 3.78; 95% CI 2.92-4.89), and women living first 20 years in rural areas showed protective effect (OR 0.77).

Large pooled case-control study of 49,608 breast cancer cases and 48,772 controls from 39 studies in the Breast Cancer Association Consortium independently confirmed four SNPs as breast cancer susceptibility loci. SNP rs614367 (CCND1 region) showed the strongest association (OR 1.21, P < 1×10⁻⁸) overall and OR 1.29 for hormone receptor-positive breast cancer. SNPs rs1011970 (CDKN2A/2B, OR 1.09), rs10995190 (ZNF365, OR 0.92), and rs704010 (ZMIZ1) were also significantly associated with breast cancer risk in women of European descent, while rs2380205 (10p15) showed limited evidence.

Comprehensive resequencing of a 122.9 kb region on chromosome 11q13.3 identified 644 polymorphic loci, including 166 novel variants not present in public databases. The study focused on fine-mapping prostate cancer susceptibility loci including rs10896438, rs12793759, rs10896449, and rs11228565, cataloguing 22-25 highly correlated surrogates (r² ≥ 0.8) for each locus and identifying functional regulatory elements. Indel polymorphisms comprised 13.4% of identified variants, with 58.5% novel to this study.