rs9344

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.

Two-stage replication study of 9 SNPs in 8 genes previously associated with breast cancer survival in 6,307 Chinese women (Stage 1: 1,115 cases, Stage 2: 5,192 cases). MMP7 rs11225297 and MMP8 rs11225395 showed consistent associations with overall survival, with rare alleles conferring 20-40% improved survival (HR 0.4-0.6 and 0.6 for TT genotypes respectively, p<0.001).

This cumulative meta-analysis of 10 case-control studies (2,864 cervical cancer patients and 3,898 controls) found no significant association between the CCND1 G870A polymorphism and cervical cancer risk across any genetic model tested (allele contrast A vs. G: OR = 1.02, 95% CI = 0.88-1.19, P = 0.76). Results remained non-significant in stratified analyses by ethnicity, study design, and genotyping type.

A case-control study investigating CCND1 gene polymorphisms (G870A and G1722C) in 151 esophageal squamous cell carcinoma (ESCC) cases and 151 controls from Kashmir Valley found that the G870A rs9344 variant (GA+AA genotypes) conferred 2.8-fold increased ESCC risk (OR=2.8, 95% CI=1.77-4.42, P=0.0001). The novel G1722C rs678653 variant (CC genotype) showed 2.58-fold increased risk (OR=2.58, 95% CI=1.61-4.15, P=0.0001). Gene-environment interactions with smoking (OR=4.22, P=0.0005) and hot salted tea consumption >3 cups/day (OR=5.1, P=0.0016) were significant for G870A.

Meta-analysis of 10 case-control studies (2,864 cervical cancer patients, 3,898 controls) investigating the CCND1 G870A polymorphism. Overall, no significant association was found between the polymorphism and cervical cancer risk across all genetic models tested (allele contrast OR=1.02, 95% CI=0.88-1.19, p=0.76; dominant model OR=1.00, 95% CI=0.78-1.28, p=0.99; recessive model OR=1.06, 95% CI=0.85-1.23, p=0.62). Stratified analyses by ethnicity, study design, and genotyping method similarly showed no significant associations.

This pharmacogenetic study examined genetic variants in the folate metabolism and MTX transport pathways in rheumatoid arthritis patients receiving methotrexate monotherapy. Study 1 (n=124) identified rs17421511 and rs1476413 in MTHFR and rs1643650 in DHFR as significantly associated with MTX treatment response (p=0.024, p=0.0086, p=0.026 respectively), and rs16853826 and rs10197559 in ATIC as associated with toxicity (p=0.039). Study 2 (n=194) found rs10106 and rs10987742 in FPGS associated with response, and rs868755, rs10280623, rs1858923 in ABCB1 associated with toxicity, with rs10106 also associated with longer MTX monotherapy survival.

This pharmacogenetics study analyzed 28 SNPs in methotrexate (MTX) metabolism genes (SLC19A1/RFC1, ABCB1, FPGS, GGH) in two Spanish populations with rheumatoid arthritis (n=124 and n=194). Key findings: FPGS rs10987742 and rs10106 associated with MTX response (p=0.033, p=0.041); FPGS rs10106 also associated with MTX survival (p=0.005) and toxicity (p=0.021); ABCB1 rs868755, rs10280623, rs1858923 associated with toxicity (p=0.025, p=0.048, p=0.031). In the first study, MTHFR rs17421511 (p=0.024) and rs1476413 (p=0.0086) associated with response, DHFR rs1643650 (p=0.026) associated with response, ATIC rs16853826 associated with toxicity (p=0.039).