rs9929218

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.

Genome-wide investigation of gene-environment interactions in colorectal cancer using a two-tiered case-only/case-control design. In 314 sporadic CRC cases (stage I) and 259 familial CRC cases plus 1,002 controls (stage II), rs1944511 showed a significant interaction with overweight (OR=2.00, p=0.042 after multiple testing correction). Several other SNPs showed nominally significant G×E interactions with overweight, smoking, and alcohol consumption. Among candidate CRC-associated SNPs, rs9929218 showed the strongest interaction with alcohol consumption (nominal p=0.008).

This document is a comprehensive collection of ~1,200 cancer-related research abstracts and summaries published in various journals (2013), covering clinical trials, pharmacogenomic studies, and mutation analyses across multiple cancer types including colorectal, breast, lung, lymphoma, and other malignancies. The collection documents associations between genetic variants (SNPs and somatic mutations), gene expression patterns, and cancer treatment outcomes, including studies on KRAS, EGFR, TP53, BRAF, and pharmacogenomic variants like CYP3A4 and UGT1A1.

This is a comprehensive journal compilation containing multiple oncology and pharmacogenomics studies published in 2013 across various journals. The collection includes 60+ papers covering cancer treatment outcomes, genetic polymorphisms predicting chemotherapy response and survival, pharmacogenetic variants in drug metabolism and DNA repair genes, and prognostic biomarkers in various cancer types including breast, lung, colorectal, hematologic malignancies, and others. Key findings include associations of XRCC1 variants (rs915927, rs76507, rs2854501, rs2854509, rs3213255) with bladder cancer chemotherapy survival, ABCG2 rs2725264 with lung cancer overall survival (HR 3.22), SLCO1B1 rs4149056 with methotrexate pharmacokinetics, MTHFR rs1801131 with acute lymphoblastic leukemia outcome, and ABCC3/GSTM variants with acute myeloid leukemia survival.

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).

This paper applies a bias correction method for odds ratio estimates from GWAS discovery data, demonstrating that the 'winner's curse' affects initial effect size estimates. The authors applied conditional maximum likelihood estimation to correct bias in GWAS findings from multiple complex diseases (breast cancer, colorectal cancer, lung cancer, prostate cancer, type I and II diabetes) and show that bias-adjusted odds ratios are substantially more consistent with subsequent replication studies, with selection-adjusted confidence intervals providing better uncertainty quantification than uncorrected estimates.

A case-control study of 500 cleft individuals and 500 unrelated controls investigated associations between AXIN2 and CDH1 gene polymorphisms and oral clefts with or without tooth agenesis. CDH1 SNPs (rs11642413, rs9929218) showed borderline associations with unilateral cleft lip/palate (P=0.03-0.04), while AXIN2 SNPs showed trends with incomplete cleft palate (P=0.006) and unilateral right cleft lip/palate with tooth agenesis (P=0.01-0.008).

This study examined the relationship between 233 colorectal cancer (CRC) risk loci and overall survival in 1,926 patients with advanced CRC from clinical trials. Two SNPs significantly associated with survival under a recessive model were identified: rs117079142 (HR=2.79, 95% CI=1.70-4.58, P=4.7×10⁻⁵) mapping to UTP23/EIF3H, and rs9924886 (HR=1.24, 95% CI=1.12-1.38, P=5.2×10⁻⁵) mapping to CDH1/CDH3. Low CDH1 gene expression in tumors was associated with worse survival (HR=2.18, P=1.8×10⁻³), supporting a prognostic role for CDH1 variants.