rs2294008

This case-control study of 1,115 gastric cancer cases and 1,172 Eastern Chinese controls identified six SNPs (rs13361707, rs2294008, rs4072037, rs3762272, rs2274223, rs80142782) associated with increased gastric cancer risk with ORs ranging from 1.19–1.47. A predictive model combining these genetic variants with BMI achieved an AUC of 0.684 compared to 0.653 for BMI alone, and revealed a gene-environment interaction between low BMI and genetic risk variants.

This fine-mapping association study in 1926 European gastric cancer (GC) patients and 2012 controls confirmed associations at chromosome 5p13 (rs6872282, P=2.53×10⁻⁴, OR=1.22) and 8q24 (rs2585176, P=1.09×10⁻⁹, OR=1.34) and characterized them through eQTL analysis. The study found cis-eQTL effects for PTGER4 upregulation (5p13, P=9.27×10⁻¹¹) and PSCA upregulation (8q24, P=2.17×10⁻⁴⁷), plus trans-eQTL effects for MBOAT7 downregulation (8q24, P=1.99×10⁻⁹) in GC risk allele carriers.

A discovery and replication study of 130 and 159 Colombian patients examining genetic and epigenetic variation in GATA5 associated with gastric disease progression. Two synonymous SNPs in GATA5 (rs6061243 and rs6587239) were significantly associated with histopathology scores in dominant-effect models (p = 2.63×10⁻⁷ and 7.97×10⁻⁷, respectively, β = -0.86 and -0.82) and replicated in additive/dominant models. GATA5 promoter methylation was independently associated with disease progression (p = 0.001), and a significant SNP-by-methylation interaction indicated non-linear combined effects on gastric lesion severity.

This case-control study investigated associations between CD133 gene polymorphisms in microRNA binding sites and gastric cancer (GC) susceptibility and survival. Among 684 participants (371 cases, 313 controls), rs2240688 C allele was associated with increased GC risk (adjusted OR = 1.52, 95% CI = 1.09-2.13, P = 0.013), while rs3130 T allele was protective (adjusted OR = 0.68 per TT genotype, P = 0.033). The rs3130 TT genotype was also associated with improved overall survival (adjusted HR = 0.77, 95% CI = 0.63-0.93, P = 0.007), with median survival time of 43 months versus 26 months for CT/CC carriers.

A case-control study of 1,115 gastric cancer (GCa) cases and 1,172 controls from Eastern China examined whether 42 common genetic variants associated with GCa susceptibility predict patient prognosis. A weighted genetic risk score (GRS) was constructed and tested in 633 GCa cases using Cox proportional hazards regression. The results found no significant association between increasing GRS and risk of death (low vs medium: HR=0.87, P=0.349; high vs medium: HR=0.97, P=0.847), and GRS did not improve prognostic prediction beyond clinical factors alone (C-index 0.78 vs 0.78, P=0.986). Genetic variants associated with gastric cancer susceptibility do not appear to predict worse prognosis in Chinese gastric cancer patients.

Pathway analysis of a gastric cancer GWAS dataset using ICSNPathway identified 7 candidate SNPs (rs4745, rs12904, rs1801019, rs364897, rs11187870, rs2274223, rs3765524) in 4 genes (EFNA1, UMPS, GBA, PLCE1) and 12 biological pathways. Four hypothetical mechanisms were proposed: ephrin receptor binding via EFNA1, pyrimidine metabolism via UMPS, cyanoamino acid metabolism via GBA, and cell growth/lipid biosynthesis via PLCE1.

This review article discusses the molecular mechanisms underlying sex steroid-dependent growth of muscle-invasive bladder cancer (MIBC) and the role of SNPs on chromosome 8q24, particularly rs2294008 in the PSCA gene. The paper proposes that androgen receptor loss during tumor progression leads to androgen-independent pathways (IGFBP2 signaling), potentially explaining why female MIBC patients have worse outcomes. The PSCA rs2294008 T-allele is associated with increased bladder cancer risk (OR 1.33, 95% CI 1.22-1.45) and reduced PSCA transcriptional activity.

A case-control study of 1550 esophageal squamous cell carcinoma (ESCC) patients and 1620 controls from four Chinese populations found that rs621559 (1p34.2) and rs398652 (14q21) SNPs, which are associated with leukocyte telomere length, contribute to ESCC susceptibility. The rs621559 AA genotype was associated with a 0.71-fold decreased risk of ESCC (p = 5.9×10⁻⁶), while the rs398652 G allele was associated with a 1.22–1.39-fold increased risk (p = 4.1×10⁻⁵ to 6.5×10⁻⁴) across multiple genetic models.

Case-control study of PSCA rs2294008 C/T polymorphism in 107 South Indian urothelial bladder cancer patients and 105 controls. The CT heterozygous genotype conferred 2.77-fold increased risk (p<0.0001), and the T allele showed 3.35-fold risk (OR=3.349, p<0.0001). Risk was significantly elevated in smokers (OR CT/TT=2.374) and inversive tumors (OR CT/TT=2.658), suggesting rs2294008 as a susceptibility marker for bladder carcinogenesis.

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.

This case-control study of 231 bladder urothelial carcinoma (UC) patients and 261 benign controls found that rs9642880[T] and rs798766[T] variants increase bladder-UC risk (OR=1.72, p=0.028 and OR=1.84, p=0.01 respectively), but unlike upper tract UC, these variants are not associated with disease aggressiveness (grade or stage). The findings highlight distinct genetic differences between bladder-UC and upper urinary tract urothelial carcinoma.

A nested case-control study within the EPIC-EURGAST cohort in 411 gastric adenocarcinoma cases and 1,530 matched controls showed that the T allele of PSCA variant rs2294008 (Met1Thr) is significantly associated with increased gastric cancer risk in Caucasians (OR=1.42, 95% CI: 1.23-1.66, p=6.5×10⁻⁶), with comparable effects for both diffuse and intestinal histological types.

A meta-analysis of 9 case-control studies (10,746 cases, 9,158 controls) found that PSCA rs2294008 C>T and rs2976392 G>A polymorphisms are significantly associated with increased gastric cancer risk, with ORs of 1.61 (95% CI 1.35-1.91) and 1.69 (95% CI 1.24-2.31) respectively. The association was particularly strong for non-cardia and diffuse-type gastric cancer subtypes in both Asian and European populations.

Case-control study of 692 stomach cancer cases and 774 controls in a Chinese population found significant associations between four GWAS-identified SNPs and gastric cancer susceptibility: PSCA rs2294008 (OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (OR=1.48, 95% CI=1.15-1.90) increased risk, while MUC1 rs4072037 (OR=0.77, 95% CI=0.60-0.98) was protective. Subjects carrying 2-4 risk genotypes had significantly increased stomach cancer risk (OR=1.30, 95% CI=1.03-1.64).

A case-control study of 692 stomach cancer cases and 774 controls in a Han Chinese population examined associations of four GWAS-identified SNPs with gastric cancer susceptibility. PSCA rs2294008 (CT: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG: OR=1.48, 95% CI=1.15-1.90) were all significantly associated with increased stomach cancer risk, while MUC1 rs4072037 (CT: OR=0.77, 95% CI=0.60-0.98) was protective. Carriers of multiple risk genotypes had significantly elevated cancer risk.

Letter to the editor discussing peritoneal carcinomatosis from gastric cancer management and genetic susceptibility. Authors discuss GWAS findings including PSCA variants rs2976392 and rs2294008 at 8q24 associated with diffuse-type gastric cancer in Asian populations, and SNPs at 1q22 (rs4072037) and 10q23 (rs2274223) associated with gastric cancer risk in Chinese populations. The letter emphasizes the need for prospective randomized trials and future GWAS studies to identify novel genetic loci for peritoneal metastasis susceptibility.

Case-control study of 692 stomach cancer cases and 774 controls in Han Chinese examining associations between four GWAS-identified SNPs and gastric cancer risk. PSCA rs2294008 (OR=1.37), rs2976392 (OR=1.30), and PLCE1 rs2274223 (OR=1.48) showed increased risk, while MUC1 rs4072037 was protective (OR=0.77). Combined risk genotypes increased cancer susceptibility.

Case-control study of 1020 NCGC patients, 716 CGC patients, and 1020 controls in Chinese population examined associations of two PSCA SNPs with gastric cancer risk. rs2294008T allele was associated with increased noncardia gastric carcinoma (NCGC) risk (OR=1.35, 95% CI=1.13-1.61), and rs2976392A allele showed borderline increased risk (OR=1.20, 95% CI=1.01-1.43). The increased risk was restricted to female subjects, and both SNPs were associated with poorly differentiated and high-stage NCGC at diagnosis. No associations were detected for cardia gastric carcinoma (CGC).

Case-control study (692 cases, 774 controls) in Han Chinese population examining associations of four GWAS-identified SNPs with stomach cancer risk. PSCA rs2294008 (CT vs CC: OR=1.37, 95% CI=1.07-1.74), PSCA rs2976392 (AG vs GG: OR=1.30, 95% CI=1.02-1.65), and PLCE1 rs2274223 (AG vs AA: OR=1.48, 95% CI=1.15-1.90) were associated with increased stomach cancer risk, while MUC1 rs4072037 (CT vs TT: OR=0.77, 95% CI=0.60-0.98) was protective.