{{Rsnum
|rsid=3212986
|Gene=ERCC1
|Chromosome=19
|position=45409478
|Orientation=minus
|ReferenceAllele=C
|MissenseAllele=A
|GMAF=0.2925
|Gene_s=CD3EAP,ERCC1
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 57.1 | 39.3 | 3.6
| HCB | 47.4 | 43.1 | 9.5
| JPT | 59.3 | 39.8 | 0.9
| YRI | 44.2 | 45.6 | 10.2
| ASW | 47.4 | 45.6 | 7.0
| CHB | 47.4 | 43.1 | 9.5
| CHD | 54.1 | 36.7 | 9.2
| GIH | 52.5 | 38.6 | 8.9
| LWK | 55.5 | 36.4 | 8.2
| MEX | 19.0 | 58.6 | 22.4
| MKK | 53.2 | 43.6 | 3.2
| TSI | 58.8 | 32.4 | 8.8
| HapMapRevision=28
}}
{{PMID Auto
|PMID=19318434
|Title=Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.
|OA=1
}}

{{PharmGKB
|RSID=rs3212986
|Name_s=ERCC1 C8092A; ERCC1:8090C>A
|Gene_s=CD3EAP, PPP1R13L, ERCC1
|Feature=
|Evidence=PubMed ID:19362955
|Annotation=Risk or phenotype-associated allele: A. Phenotype: In a study of patients with NSCLC on platinum-based treatments, carriers of the A variant of ERCC1:8092C>A had improved outcomes with greater overall survival and median survival times. Study size: 119. Study population/ethnicity: Patients with NSCLC treated with platinum-based regimens as first- or second-line chemotherapy. Significance metric(s): p = 0.009. Type of association: CO.
|Drugs=platinum
|Drug Classes=
|Diseases=Carcinoma, Non-Small-Cell Lung
|Curation Level=Curated
|PharmGKB Accession ID=PA165109242
}}

{{PharmGKB
|RSID=rs3212986
|Name_s=ERCC1:8092C>A
|Gene_s=CD3EAP, PPP1R13L, ERCC1
|Feature=
|Evidence=PubMed ID:19786980
|Annotation=In a study of ovarian cancer patients (n=104) receiving a cisplatin-cyclophosphamide regimen, the heterozygous C/A genotype of ERCC1:8092C>A was associated with nephrotoxicity.
|Drugs=cisplatin; cyclophosphamide
|Drug Classes=
|Diseases=nephrotoxicity
|Curation Level=Curated
|PharmGKB Accession ID=PA165107203
}}

{{PMID Auto
|PMID=21826087
|Title=Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
|OA=1
}}

{{PMID|15734977}} Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer.

{{PMID|16465622|OA=1
}} Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

{{PMID|17299578|OA=1
}} 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|18505952|OA=1
}} Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.

{{PMID|18635523|OA=1
}} 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|18711149|OA=1
}} Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

{{PMID|18765826|OA=1
}} Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.

{{PMID|18854777|OA=1
}} Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

{{PMID|18990748|OA=1
}} International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

{{PMID|19029193|OA=1
}} Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.

{{PMID|19124499|OA=1
}} 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|19536092|OA=1
}} Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

{{PMID|20066159|OA=1
}} 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|20141440|OA=1
}} Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.

{{PMID|21364592|OA=1
}} 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
|gene=CD3EAP
|aa_change=Gln504Lys
|aa_change_short=Q504K
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs3212986
|overall_frequency_n=2770
|overall_frequency_d=10698
|overall_frequency=0.258927
|n_genomes=29
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=2
|n_articles_annotated=2
|in_pharmgkb=Y
|pph2_score=0.002
|nblosum100=-2
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23166636
|Title=Polymorphisms in ERCC1 and XPF Genes and Risk of Gastric Cancer in an Eastern Chinese Population
|OA=1
}}

{{PMID Auto
|PMID=23147699
|Title=Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population
}}

{{PMID Auto
|PMID=23335232
|Title=Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
}}

{{PMID Auto
|PMID=23909490
|Title=Polymorphisms in the ERCC1 and XPF Genes and Risk of Breast Cancer in a Chinese Population
}}

{{PMID Auto
|PMID=23962907
|Title=ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy
}}

{{PMID Auto
|PMID=24023723
|Title=ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients
|OA=1
}}

{{PMID Auto
|PMID=24254311
|Title=Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis
}}

{{PMID Auto
|PMID=24500421
|Title=Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
}}

{{PMID Auto
|PMID=24499239
|Title=Predicting the outcome of platinum-based chemotherapies in epithelial ovarian cancer using the 8092C/A polymorphism of ERCC1: a meta-analysis
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23203453
|Title=Excision repair of BPDE-adducts in human lymphocytes: diminished capacity associated with ERCC1 C8092A (rs3212986) polymorphism.
}}

{{PMID Auto
|PMID=24036326
|Title=Genotoxic effect of exposure to metal(loid)s. A molecular epidemiology survey of populations living and working in Panasqueira mine area, Portugal
}}

{{PMID Auto
|PMID=24859833
|Title=Polymorphisms in ERCC1 gene could predict clinical outcome of platinum-based chemotherapy for non-small cell lung cancer patients
}}

{{PMID Auto
|PMID=24861646
|Title=Association of single nucleotide polymorphisms of ERCC1 and XPF with colorectal cancer risk and interaction with tobacco use
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}