rs11615
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs11615(C;C) |
| Make rs11615(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 45420395 |
| Gene | ERCC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11615 |
| dbSNP (classic) | rs11615 |
| ClinGen | rs11615 |
| ebi | rs11615 |
| HLI | rs11615 |
| Exac | rs11615 |
| Gnomad | rs11615 |
| Varsome | rs11615 |
| LitVar | rs11615 |
| Map | rs11615 |
| PheGenI | rs11615 |
| Biobank | rs11615 |
| 1000 genomes | rs11615 |
| hgdp | rs11615 |
| ensembl | rs11615 |
| geneview | rs11615 |
| scholar | rs11615 |
| rs11615 | |
| pharmgkb | rs11615 |
| gwascentral | rs11615 |
| openSNP | rs11615 |
| 23andMe | rs11615 |
| SNPshot | rs11615 |
| SNPdbe | rs11615 |
| MSV3d | rs11615 |
| GWAS Ctlg | rs11615 |
| GMAF | 0.3627 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
[PMID 21826087
] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 15734977] Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 18332046] A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18635523] Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19361884] Effects of excision repair cross-complementation group 1 (ERCC1) single nucleotide polymorphisms on the prognosis of non-small cell lung cancer patients.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 20003391] ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.
[PMID 20003463] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.
[PMID 21278243] ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis.
[PMID 21315089] The ERCC1 N118N polymorphism does not change cellular ERCC1 protein expression or platinum sensitivity.
[PMID 21364592] CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.
[PMID 21553053] The determination of relationship between "excision repair cross-complementing group 1" (ERCC1) gene T19007C and C8092A single nucleotide polymorphisms and clinicopathological parameters in non-small cell lung cancer.
[PMID 21601580] HapMap-based study of a region encompassing ERCC1 and ERCC2 related to lung cancer susceptibility in a Chinese population.
[PMID 21956434] Neoadjuvant radiochemotherapy in adenocarcinoma of the esophagus: ERCC1 gene polymorphisms for prediction of response and prognosis.
[PMID 22002622] Nucleotide excision repair gene ERCC1 polymorphisms contribute to cancer susceptibility: a meta-analysis.
[PMID 22201261] ERCC1 polymorphisms and risk of adult glioma in a Chinese population: a hospital-based case-control study.
[PMID 22335888] A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population.
[PMID 23166636] Polymorphisms in ERCC1 and XPF Genes and Risk of Gastric Cancer in an Eastern Chinese Population
[PMID 23147699] Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population
[PMID 23680703] A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population
[PMID 23684781] Phase II Study of Satraplatin and Prednisone in Patients With Metastatic Castration-Resistant Prostate Cancer: A Pharmacogenetic Assessment of Outcome and Toxicity
[PMID 23909490] Polymorphisms in the ERCC1 and XPF Genes and Risk of Breast Cancer in a Chinese Population
[PMID 23936089] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
[PMID 23962907] ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy
[PMID 24103542] High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution
[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma
[PMID 24499239] Predicting the outcome of platinum-based chemotherapies in epithelial ovarian cancer using the 8092C/A polymorphism of ERCC1: a meta-analysis
[PMID 22821389] Polymorphisms of ERCC1 genotype associated with response to imatinib therapy in chronic phase chronic myeloid leukemia.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23180017] PPP1R13L variant associated with prognosis for patients with rectal cancer.
[PMID 23203453] Excision repair of BPDE-adducts in human lymphocytes: diminished capacity associated with ERCC1 C8092A (rs3212986) polymorphism.
[PMID 24859833] Polymorphisms in ERCC1 gene could predict clinical outcome of platinum-based chemotherapy for non-small cell lung cancer patients
[PMID 24861646] Association of single nucleotide polymorphisms of ERCC1 and XPF with colorectal cancer risk and interaction with tobacco use
[PMID 24939416] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients
[PMID 25789018] Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer
[PMID 25834456] Association between the ERCC1 rs11615 polymorphism and clinical outcomes of oxaliplatin-based chemotherapies in gastrointestinal cancer: a meta-analysis
[PMID 26022132] Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies
[PMID 26254278] Impact of VEGF, VEGFR, PDGFR, HIF and ERCC1 gene polymorphisms on thymic malignancies outcome after thymectomy
[PMID 26253951] Use a survival model to correlate single-nucleotide polymorphisms of DNA repair genes with radiation dose-response in patients with non-small cell lung cancer
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 26400354] Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma
[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma
[PMID 26475344] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer
[PMID 27668351] Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population.
| ClinVar | |
|---|---|
| Risk | rs11615(C;C) |
| Alt | rs11615(C;C) |
| Reference | Rs11615(T;T) |
| Significance | Drug-response |
| Disease | platinum response - Efficacy carboplatin response - Efficacy Platinum compounds response - Efficacy cisplatin response - Efficacy oxaliplatin response - Efficacy Xeroderma pigmentosum |
| Variation | info |
| Gene | ERCC1 |
| CLNDBN | platinum response - Efficacy, Toxicity/ADR carboplatin response - Efficacy, Toxicity/ADR Platinum compounds response - Efficacy, Toxicity/ADR cisplatin response - Efficacy, Toxicity/ADR oxaliplatin response - Efficacy, Toxicity/ADR Xeroderma pigmentosum |
| Reversed | 1 |
| HGVS | NC_000019.9:g.45923653A>G |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211176.1, RCV000211179.1, RCV000211295.1, RCV000211304.1, RCV000211427.1, RCV000407425.1, |
[PMID 27741011] Molecular Markers for the Prediction of Minor Response to Neoadjuvant Chemoradiation in Esophageal Cancer: Results of the Prospective Cologne Esophageal Response Prediction (CERP) Study.
[PMID 28743890] Polymorphism in ERCC1 confers susceptibility of coronary artery disease and severity of coronary artery atherosclerosis in a Chinese Han population.
[PMID 30973677] Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment.
