rs915927
This is a synonymous variant in the XRCC1 gene — it does not change the protein's amino acid sequence.
▶ClinVar annotation
Spinocerebellar ataxia, autosomal recessive 26; not provided
View on ClinVar →▶Research that mentions this SNP (4)
▶Association of 12 polymorphic variants conferring genetic risk to lung cancer in Indian population: An extensive meta‐analysisMeta-analysisN=19,556Debmalya Sengupta et al.(2017)· Environmental and Molecular Mutagenesis
A comprehensive meta-analysis of 50 case-control studies from the Indian subcontinent identified genetic variants modifying lung cancer risk, finding FDR-corrected associations for rs3547/XRCC1 (OR=1.83-2.72) and rs1048943/CYP1A1 (OR=2.07). The rs1048943/CYP1A1 variant showed strongest associations with adenocarcinoma (OR=3.38) and squamous cell carcinoma (OR=3.53) with significant effect modification by smoking status. Global meta-analysis confirmed rs1048943/CYP1A1 association across world populations (OR=1.22, p=0.01).
▶Associations between circulating carotenoids, genomic instability and the risk of high-grade prostate cancerAssociationN=559Tobias Nordström et al.(2016)· The Prostate
A study of 559 men with prostate cancer examined associations between circulating carotenoid levels and high-grade prostate cancer risk, finding that higher carotenoid levels (α-carotene OR=0.34, β-carotene OR=0.31, lycopene OR=0.55) were inversely associated with high-grade disease. SNPs in XRCC1 (rs25489), SOD3 (rs699473), and OGG1 (rs1052133) modified these associations, and lycopene levels were associated with lower genomic instability in low-grade tumors.
▶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.
About XRCC1
The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]
View all XRCC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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