rs11615

A candidate gene study examining 36 SNPs in 29 genes for associations with acute toxicity in 110 locally advanced head and neck cancer patients treated with platinum-based chemoradiotherapy. ERCC1 rs11615-C allele (P=0.0066), ERCC1 rs735482-C allele (P=0.0204), and ERCC4 rs1799801-C allele (P=0.0286) were protective against grade 2-3 hematologic toxicity. GSTP1 G allele was protective against severe dysphagia (P=0.0004).

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 study investigated the association between polymorphisms in ERCC1, CD3EAP, and PPP1R13L genes (located at 19q13.2-3) and colorectal cancer prognosis in 349 Korean patients undergoing curative surgery. PPP1R13L rs1970764 was significantly associated with relapse-free and disease-specific survival in a recessive model (HR = 1.743 and 1.734, P = 0.003 and 0.010, respectively). The prognostic impact was particularly strong in rectal cancer patients (HR = 3.307 and 3.180, both P < 0.001), suggesting this variant is a prognostic marker for rectal cancer outcomes.

This functional study examined two ERCC1 SNPs (rs11615 and rs3212986) in 780 healthy Chinese participants and assessed BPDE-DNA adduct levels in cultured lymphocytes from 117 participants as a marker of DNA repair capacity. The minor A allele of rs3212986 was associated with significantly higher BPDE-DNA adduct levels (3,691.3 vs 1,902.5, P<0.01) and haplotype CA showed elevated risk (OR=1.801, 95% CI 1.191-2.724). CAST mRNA expression was reduced in AA carriers. The findings suggest rs3212986 is associated with diminished DNA repair capacity in response to benzo[a]pyrene exposure.

This study examined PAH-related DNA adduct levels in 111 female never-smokers from Iran, evaluating 21 SNPs in 14 xenobiotic metabolism genes and 12 SNPs in 8 DNA repair genes. DNA adduct levels were significantly lower with NAT2 slow alleles (β=-0.24, p=0.01) and ERCC5 non-risk genotype (β=0.16, p=0.04), but higher with MPO risk alleles (β=0.21, p=0.01). The combination of phase I genes and measured NER capacity explained 17% more variation in adduct levels than environmental exposure alone (r²=0.24 vs 0.07), demonstrating the importance of genetic polymorphisms in PAH metabolism and DNA repair capacity.

A pathway-based candidate gene association study of 218 SNPs in 50 DNA repair genes on non-small-cell lung cancer (NSCLC) survival in 568 Chinese patients. Six SNPs remained significant in multivariate analysis: ATM rs189037 (HR=1.40, p=0.011), MRE11A rs11020802 (HR=1.35, p=0.007), ERCC2 rs1799793 (HR=1.56, p=0.009), MBD4 rs140693 (HR=0.49, p=0.001), XRCC1 rs25487 (HR=1.66, p=0.001), and PMS1 rs5742933 (HR=1.89, p=0.011). In advanced patients treated with platinum-based chemotherapy, ERCC1 rs11615 and XPC rs2228000 were associated with survival.

Genome-wide association study identifying genetic polymorphisms associated with severe oxaliplatin-induced chronic peripheral neuropathy (OXCPN) in colon cancer patients. Discovery analysis of 96 patients and validation in 247 patients identified 9 SNPs in 8 genes with nominal replication (P < 0.05), with the strongest association at rs10486003 in TAC1 (P = 4.84 × 10⁻⁷, OR = 0.32). A prediction model using 5 SNPs (rs10486003, rs2338, rs830884, rs843748, rs797519) achieved 72.8% accuracy in model development and 75.9% in model evaluation.

A case-control study of 339 Chinese lung cancer cases and 358 controls evaluated haplotype-tagging SNPs in ERCC2, PPP1R13L, and ERCC1 on chromosome 19q13.3 for association with lung cancer risk. Haplotype analysis revealed significant differential distributions in the region covering ERCC2 and PPP1R13L (P = 8.12e-005) and extending to ERCC1 (P = 4.82e-006). The Block1Hap-2 haplotype CGCC in ERCC2 was associated with increased lung cancer risk (OR 1.26, P = 0.02), while one PPP1R13L htSNP (rs2070830) showed marginal association (OR 1.47, P = 0.04) but was excluded due to Hardy-Weinberg deviation.

A case-control study of 139 patients with advanced ovarian cancer found that SNPs in the nucleotide excision repair (NER) pathway genes, particularly XPC and XPF/ERCC4, were associated with platinum chemotherapy response. XPC rs3731108 AG/AA genotype was associated with prolonged progression-free survival (PFS) of 21.3 months vs 13.4 months (HR=0.63, p=0.03), XPC rs1124303 GT/GG genotype with PFS of 22.8 vs 14.9 months (HR=0.47, p=0.03), and XPC-PAT polymorphism with extended PFS (HR=0.56, p=0.01). These XPC associations remained significant after multivariate adjustment for BRCA status and cytoreductive surgery outcome.

This comprehensive review examines genetic association studies on prostate cancer, discussing GWASs that have identified over 75 variants associated with PCa risk (as of February 2016), with major susceptibility regions at 8q24, 17q12, 17q24, 10q11, and 19q13. The paper also reviews candidate gene-based approaches targeting genes involved in androgen signaling, carcinogen metabolism, DNA repair, vitamin D signaling, inflammation, angiogenesis, and cellular adhesion, as well as regulatory RNA genes.