rs2854509

This variant is located in the XRCC1 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 cancer
ReviewGudrun 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.

Traits studied:Acute myeloid leukemiaBladder cancerBreast cancerChemotherapy responseChronic lymphocytic leukemiaColorectal cancerDisease-free survivalEsophageal cancerFollicular lymphomaGallbladder cancerGlioblastomaHead and neck cancerLymphomaMyelodysplastic syndromesNon-small cell lung cancer (NSCLC)Overall survivalPrimary mediastinal B-cell lymphomaProgression-free survivalProstate cancerRenal cell carcinoma
Sipa1 promoter polymorphism predicts risk and metastasis of lung cancer in Chinese
ReviewChenli 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.

Traits studied:Acute lymphoblastic leukemiaAcute myeloid leukemiaBladder cancerBreast cancerChronic lymphocytic leukemiaChronic myeloid leukemiaChronic myelomonocytic leukemiaColorectal cancerFollicular lymphomaGastric cancerGastrointestinal stromal tumorsGlioblastomaHepatocellular carcinomaHodgkin lymphomaLung cancerMultiple myelomaMyelodysplastic syndromesMyxofibrosarcomasNon-small cell lung cancerPrimary mediastinal B-cell lymphomaProstate cancer
Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking‐related lung cancer
AssociationN=1,651Shama C. Buch et al.(2012)· Molecular Carcinogenesis

This case-control study of 722 lung cancer cases and 929 controls examined 240 SNPs in DNA repair and cell cycle control pathway genes among smokers. Thirty-eight SNPs were associated with lung cancer risk at P<0.05, with strongest associations in GTF2H4 (rs2074508), LIG1 (rs10500298), PARP1 (rs747658, rs3219073), and XRCC1 (rs1799782, rs3213255). A genetic risk score combining 31 SNPs showed 3.44-fold increased risk in the highest versus lowest quartile.

Traits studied:AdenocarcinomaLung cancerNon-small cell lung cancerSmall cell lung cancerSmoking-related lung cancerSquamous cell carcinoma

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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