{{Rsnum
|rsid=1799793
|Gene=ERCC2
|Chromosome=19
|position=45364001
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.1942
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ERCC2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 6.2 | 48.4 | 45.3
| HCB | 0.0 | 13.3 | 86.7
| JPT | 0.0 | 20.5 | 79.5
| YRI | 0.0 | 14.5 | 85.5
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 13.3 | 86.7
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}

{{Venter SNP
|rsid=1799793
|allele=T
|frequency=0.308
|uid=1103691154140
|type=heterozygous_SNP
|hugo=ERCC2
|ensembl gene=ENSG00000104884
|ensembl transcript=ENST00000221481
|sift=TOLERATED
|disease=Defects in ERCC2 are the cause of COFS syndrome (MIM:214150); also known as cerebro-oculo-facio-skeletal syndrome. COFS syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.
}}

{{PharmGKB
|RSID=rs1799793
|Name_s=XPD Asp312Asn; XPD:Asp312Asn
|Gene_s=ERCC2
|Feature=
|Evidence=PubMed ID:19786980
|Annotation=In a study of ovarian cancer patients (n=104) receiving a cisplatin-cyclophosphamide regimen, the XPD:312Asp/Asn (G/A) genotype was associated with severe neutropenia.
|Drugs=cisplatin; cyclophosphamide
|Drug Classes=
|Diseases=Neutropenia
|Curation Level=Curated
|PharmGKB Accession ID=PA165107200
}}

{{PMID Auto
|PMID=20150366
|Title=DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma
|OA=1
}}

{{PMID Auto
|PMID=19902366
|Title=Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
|OA=1
}}

{{PMID Auto
|PMID=21283657
|Title=Gallbladder Cancer Predisposition: A Multigenic Approach to DNA-Repair, Apoptotic and Inflammatory Pathway Genes
|OA=1
}}

{{PMID Auto
|PMID=21419115
|Title=DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck
}}

{{PMID Auto
|PMID=21739480
|Title=Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
}}

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

{{PMID Auto
|PMID=18635523
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=15564288
|Title=Polymorphisms in XPD and TP53 and mutation in human lung cancer.
}}

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

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17299578
|Title=Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=17687452
|Title=Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
|OA=1
}}

{{PMID Auto
|PMID=17705814
|Title=Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18298806
|Title=Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
|OA=1
}}

{{PMID Auto
|PMID=18544627
|Title=Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
|OA=1
}}

{{PMID Auto
|PMID=18551366
|Title=Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18709642
|Title=Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
|OA=1
}}

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

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

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

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

{{PMID Auto
|PMID=19055600
|Title=Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus.
}}

{{PMID Auto
|PMID=19270000
|Title=Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=19274602
|Title=Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.
|OA=1
}}

{{PMID Auto
|PMID=19367277
|Title=Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19706757
|Title=Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
|OA=1
}}

{{PMID Auto
|PMID=19846926
|Title=Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.
}}

{{PMID Auto
|PMID=20003391
|Title=ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.
|OA=1
}}

{{PMID Auto
|PMID=20003463
|Title=Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.
|OA=1
}}

{{PMID Auto
|PMID=20066159
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=20564624
|Title=Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India.
}}

{{PMID Auto
|PMID=21195504
|Title=Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
}}

{{PMID Auto
|PMID=21553048
|Title=Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.
}}

{{PMID Auto
|PMID=21741876
|Title=Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.
}}

{{PMID Auto
|PMID=21974800
|Title=DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.
}}

{{GET Evidence
|gene=ERCC2
|aa_change=Asp312Asn
|aa_change_short=D312N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1799793
|overall_frequency_n=2243
|overall_frequency_d=9554
|overall_frequency=0.234771
|n_genomes=17
|n_genomes_annotated=0
|n_haplomes=19
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.032
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=2
|n_web_uneval=10
}}

{{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=23680703
|Title=A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese 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=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=24260311
|Title=Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies
|OA=1
}}

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

{{PMID Auto
|PMID=23661361
|Title=The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.
}}

{{PMID Auto
|PMID=24933002
|Title=Common variants of xeroderma pigmentosum genes and prostate cancer risk
}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}