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From SNPedia

Geno Mag Summary
(G;G) 0 common in clinvar
Make rs3212986(G;T)
Make rs3212986(T;T)
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs3212986
23andMe allrs3212986
SNP Nexus

GWAS Ctlgrs3212986
Max Magnitude0
? (G;G) (G;T) (T;T) 28
[PMID 19318434OA-icon.png] Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.

[PMID 21826087OA-icon.png] 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 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 17299578OA-icon.png] 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 18505952OA-icon.png] Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.

[PMID 18635523OA-icon.png] 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 18711149OA-icon.png] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

[PMID 18765826OA-icon.png] Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.

[PMID 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

[PMID 19029193OA-icon.png] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.

[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.

[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 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[PMID 20066159OA-icon.png] MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer.

[PMID 20141440OA-icon.png] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.

[PMID 21364592OA-icon.png] 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 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.

GET Evidence
aa_change Gln504Lys
aa_change_short Q504K
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.258927

[PMID 23166636OA-icon.png] 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 23335232OA-icon.png] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx

[PMID 23909490OA-icon.png] Polymorphisms in the ERCC1 and XPF Genes and Risk of Breast Cancer in a Chinese Population

[PMID 23962907] ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy

[PMID 24023723OA-icon.png] ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients

[PMID 24254311] Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis

[PMID 24500421OA-icon.png] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis

[PMID 24499239] Predicting the outcome of platinum-based chemotherapies in epithelial ovarian cancer using the 8092C/A polymorphism of ERCC1: a meta-analysis

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 23203453] Excision repair of BPDE-adducts in human lymphocytes: diminished capacity associated with ERCC1 C8092A (rs3212986) polymorphism.

[PMID 24036326] Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal

[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 26022132] Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case-control studies

[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors

[PMID 26400354] Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma

[PMID 26475344OA-icon.png] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer

[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.

Risk rs3212986(T;T)
Alt rs3212986(T;T)
Reference rs3212986(G;G)
Significance Drug-response
Disease Platinum compounds response - Toxicity/ADR cisplatin response - Toxicity/ADR platinum response - Toxicity/ADR
Variation info
CLNDBN Platinum compounds response - Toxicity/ADR cisplatin response - Toxicity/ADR platinum response - Toxicity/ADR
Reversed 1
HGVS NC_000019.9:g.45912736C>A
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000211219.1, RCV000211315.1, RCV000211398.1,