rs4813802

This study analyzes 243 rectal cancer patients to determine if colorectal cancer (CRC) susceptibility SNPs are associated with rectal cancer prognosis. SNPs on 8q24 (rs6983267 near MYC), 18q21 (rs12953717, rs4464148 in SMAD7), and 20q13 (rs4925386 in LAMA5) are found to be associated with disease-free survival and overall survival in rectal cancer patients, with some alleles associated with better or worse prognosis despite their effects on CRC risk.

This case-control study in Japanese population evaluated CRC risk prediction models using SNPs identified in European and East Asian GWAS. An 11-SNP model combining 6 European-identified SNPs (rs6983267, rs4779584, rs4444235, rs9929218, rs10936599, rs16969681) with 5 East Asian-identified SNPs (rs704017, rs11196172, rs10774214, rs647161, rs2423279) showed significantly improved discrimination capacity compared to a 6-SNP model alone (derivation AUC 0.6392 vs 0.6125, P=0.0039; replication AUC 0.5695 vs 0.5310, P=0.0018), with cumulative risk at age 80 estimated at 13% in high-risk versus 6% in low-risk genetic groups.

Meta-analysis of genome-wide association studies examining colorectal cancer susceptibility in 2,906 cases and 3,416 controls (GWAS) with replication in 8,161 cases and 9,101 controls. Eight of ten previously identified SNPs showed associations (p-values 0.02 to 1.8×10⁻⁸), and the study identified marginal evidence for a second independent signal in BMP2 (rs4813802, combined p=7.3×10⁻⁵) and a novel association with TERT-CLPTM1L (rs2853668, combined p=1.9×10⁻⁴).