{{Rsnum
|rsid=13181
|Gene=ERCC2
|Chromosome=19
|position=45351661
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.2369
|Gene_s=ERCC2,KLC3
|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 | 7.1 | 52.2 | 40.7
| HCB | 0.0 | 19.0 | 81.0
| JPT | 0.9 | 10.6 | 88.5
| YRI | 2.0 | 31.3 | 66.7
| ASW | 7.0 | 38.6 | 54.4
| CHB | 0.0 | 19.0 | 81.0
| CHD | 0.9 | 12.8 | 86.2
| GIH | 11.9 | 50.5 | 37.6
| LWK | 2.7 | 32.7 | 64.5
| MEX | 3.4 | 31.0 | 65.5
| MKK | 3.8 | 29.5 | 66.7
| TSI | 19.8 | 45.5 | 34.7
| HapMapRevision=28
}}[[rs13181]] is a SNP of the XPD/ERCC2 gene.

A meta-analysis of 20 studies, comprising 2,308 cases, ultimately concluded that the [[rs13181]](G) allele is associated with increased cutaneous [[melanoma]] risk (odds ratio 1.12, CI: 1.03-1.21, p = 0.01; population attributable risk = 9.6%).{{PMID|19706646}}

{{Venter SNP
|rsid=13181
|allele=G
|frequency=0.333
|uid=1103691154123
|type=homozygous_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.
}}

{{PMID Auto
|PMID=19318434
|Title=Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.
|OA=1
}}

{{PMID Auto
|PMID=19615095
|Title=Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population
|OA=1
}}

{{PMID Auto
|PMID=19484764
|Title=DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia
}}

{{PharmGKB
|RSID=rs13181
|Name_s=ERCC2:Lys751Gln; ERCC2 Lys751Gln; rs13181:T>G
|Gene_s=ERCC2, KLC3
|Feature=
|Evidence=PubMed ID:19434073
|Annotation=Risk or phenotype-associated allele: G. Phenotype: The G allele of ERCC2:Lys751Gln was significantly associated with shorter event free survival. Study size: 70. Study population/ethnicity: Patients with osteosarcoma treated with cisplatin; Spain. Significance metric(s): HR = 5.76; 95% CI=1.30-25.55; p = 0.021. Type of association: CO. Phenotype: The G allele of ERCC2:Lys751Gln was significantly associated with decreased response to cisplatin. Study size: 70. Study population/ethnicity: Patients with osteosarcoma treated with cisplatin; Spain. Significance metric(s): OR = 4.9; 95% confidence interval=1.64-14.54; p = 0.047. Type of association: PD.
|Drugs=cisplatin
|Drug Classes=
|Diseases=Osteosarcoma
|Curation Level=Curated
|PharmGKB Accession ID=PA165109605
}}

{{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=20571908
|Title=MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study
}}

{{PharmGKB
|RSID=rs13181
|Name_s=ERCC2:2251A>C; ERCC2:Lys751Gln
|Gene_s=ERCC2, KLC3
|Feature=
|Evidence=PubMed ID:18267032
|Annotation=Asian colorectal cancer patients carrying the ERCC2 2251AC or 2251CC genotypes had significantly increased risk of early relapse following treatments that included 5FU and LV (n=201; OR = 3.294).
|Drugs=fluorouracil; leucovorin
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Curated
|PharmGKB Accession ID=PA164918202
}}
{{PMID Auto
|PMID=20232390
|Title=Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia
}}

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

{{PMID Auto
|PMID=21426550
|Title=The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
|OA=1
}}

{{PMID Auto
|PMID=21617750
|Title=XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population
|OA=1
}}

{{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=21890746
|Title=Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent
|OA=1
}}

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

{{PMID|16026601|OA=1
}} Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.

{{PMID|16212814|OA=1
}} ERCC1 and ERCC2 polymorphisms and adult glioma.

{{PMID|16351803}} [Correlation of genetic polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer patients to platinum-based chemotherapy].

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

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

{{PMID|17267408|OA=1
}} Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

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

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

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

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

{{PMID|18386788}} Polymorphisms in MGMT and DNA repair genes and the risk of esophageal adenocarcinoma.

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

{{PMID|18547414|OA=1
}} Genotyping panel for assessing response to cancer chemotherapy.

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

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

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

{{PMID|18767034|OA=1
}} Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.

{{PMID|18838045}} Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.

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

{{PMID|19124499|OA=1
}} Association and interactions between DNA repair gene polymorphisms and adult glioma.

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

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

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

{{PMID|19390575|OA=1
}} Lung cancer susceptibility model based on age, family history and genetic variants.

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

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

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

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

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

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

{{PMID|20979431}} Polymorphisms of COMT and XPD and risk of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.

{{PMID|21183201}} DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India.

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

{{PMID|21278243|OA=1
}} ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis.

{{PMID|21283657|OA=1
}} Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

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

{{PMID|21561390}} Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.

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

{{PMID|22076708}} Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.

{{PMID|22525558}} Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.

{{GET Evidence
|gene=ERCC2
|aa_change=Lys751Gln
|aa_change_short=K751Q
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13181
|overall_frequency_n=3432
|overall_frequency_d=10758
|overall_frequency=0.319018
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=2
|n_articles_annotated=2
|gene_in_genetests=Y
|in_pharmgkb=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=3
|webscore=N
|n_web_uneval=10
|summary_short=Increased risk of early relapse in Asian patients with fluoruracil or leucovorin.
}}

{{PMID Auto GWAS
  |PMID=23108145
  |Trait=Lung Cancer (DNA repair capacity)
  |Title=Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.
  |RiskAllele=C
  |Pval=9E-7
  |OR=NR
  |ORtxt=NR
  |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=23680703
|Title=A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population
}}

{{PMID Auto
|PMID=23716550
|Title=No association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis
|OA=1
}}

{{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=23936089
|Title=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
|OA=1
}}

{{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=24084248
|Title=The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
}}

{{PMID Auto
|PMID=24103542
|Title=High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution
}}

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

{{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=24325908
|Title=Analysis of dna repair gene polymorphisms in glioblastoma
}}

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

{{PMID Auto
|PMID=22740138
|Title=An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.
}}

{{PMID Auto
|PMID=22797977
|Title=XPD gene rs13181 polymorphism and DNA damage in human lymphocytes.
}}

{{PMID Auto
|PMID=23619945
|Title=Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
}}

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

{{PMID Auto
|PMID=23959014
|Title=DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}