rs727479

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.

Population-based case-control study of 1,304 prostate cancer cases and 1,266 controls examining 73 SNPs in five estrogen pathway genes (ESR1, ESR2, CYP19A1, CYP1A1, CYP1B1). Only CYP1B1 rs1056836 (Val158Met) retained significance after multiple comparisons adjustment (OR=1.22, 95% CI 1.02-1.46, p=0.004). ESR1, CYP1A1, and CYP1B1 variants showed nominal associations with prostate cancer risk, and ESR2/CYP19A1 variants associated with tumor aggressiveness, though these did not persist after correction.

A pharmacogenetic study of 109 Korean patients with hormone receptor-positive metastatic breast cancer treated with letrozole found that three CYP19A1 SNP variants (rs700518, rs10459592, rs4775936) were associated with improved clinical benefit rate (OR = 2.45-2.61, P = 0.025-0.036). Haplotype analysis showed specific haplotypes M_1_3 and M_2_1 were strongly associated with better response (OR = 3.37-5.33) and improved time to progression, suggesting CYP19A1 polymorphisms may serve as predictive markers for aromatase inhibitor efficacy.

This family-based association study examined CYP19 gene polymorphisms and their relationship with adult height in 1,873 Caucasian subjects from 405 nuclear families. Using QTDT and FBAT analyses, the authors found SNP rs730154 significantly associated with height (QTDT P=0.0030, FBAT P=0.0016), with the strongest associations observed in female subjects. Haplotype analysis corroborated these findings, showing that haplotypes in block 4 containing rs730154 were significantly associated with height variation, suggesting CYP19 may influence adult height through estrogen-related pathways.