rs2296147

This is a regulatory region variant variant in the ERCC5 gene.

ClinVar annotation

Benign★★★
3 submitters1 publication

Xeroderma pigmentosum, group G (XPG)

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Research that mentions this SNP (4)

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
Potentially functional polymorphisms in DNA repair genes and non‐small‐cell lung cancer survival: A pathway‐based analysis
AssociationN=568Jing Dong et al.(2012)· Molecular Carcinogenesis

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.

Traits studied:Non-small-cell lung cancer survivalPlatinum-based chemotherapy response
Polymorphisms in the XPG gene and risk of gastric cancer in Chinese populations
AssociationN=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.

Traits studied:Gastric cancerGastric cardia adenocarcinomaNon-gastric cardia adenocarcinoma

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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