rs2094258
This is a downstream gene variant variant in the ERCC5 gene.
▶Research that mentions this SNP (3)
▶A common and functional gene variant in the vascular endothelial growth factor a predicts clinical outcome in early‐stage breast cancerReviewGudrun Absenger et al.(2013)· Molecular 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.
▶Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in ChineseReviewChenli Xie et al.(2013)· Molecular Carcinogenesis
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.
▶Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populationsAssociationN=2,321Jing He et al.(2012)· Human Genetics
A case-control study of 1,125 gastric cancer cases and 1,196 controls in an Eastern Chinese population examined three polymorphisms in the XPG gene (nucleotide excision repair gene). The XPG rs873601G>A polymorphism was significantly associated with increased gastric cancer risk (adjusted OR = 1.30; 95% CI = 1.03-1.64 for AA vs GG/AG genotypes; p = 0.030), with stronger associations in older age (≥59 years), males, ever-smokers, and non-gastric cardia adenocarcinoma patients. The rs2094258 and rs2296147 SNPs showed no significant associations with risk.
About ERCC5
This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, cognitive disability, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]
View all ERCC5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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