ERCC1 (excision repair complementing defective repair in Chinese hamster.)
2006-12-01 Ulla Vogel   AffiliationNational Research Centre for the Working Environment, Lersø Parkalle 105, DK-2100 Copenhagen O, Denmark
Identity
DNA/RNA
Description
Transcription
Proteins
Description
Expression
Function
ERCC1 mRNA levels in lymphocytes correlate positively with DNA repair capacity measured by host cell reactivation. ERCC1 mRNA levels correlate closely with XPD, OGG1 and RAI mRNA levels in lymphocytes.
In case-control studies of lung cancer patients, lung cancer patients were shown to have lower mRNA levels and lower DNA repair capacity than healthy controls. This was also found in a case-control study of head and neck cancer. However, in a prospective study of lung cancer, persons, who were later diagnosed with lung cancer did not have a lower ERCC1 mRNA level than those who did not get lung cancer, indicating that the low ERCC1 expression level observed in cancer patients may be a result of the disease rather than a cause.
ERCC1 expression seems to be inducible at least at the mRNA level. Thus, the expression of ERCC1 in human lymphocytes correlated with increased solar influx indicating that UV irradiation may induce ERCC1 expression. In mice, X-ray irradiation lead to increased ERCC1 expression in lung tissue, and ingestion of diesel exhaust particles increased ERCC1 expression in liver. This indicates that ERCC1 expression is inducible, and thus that ERCC1 expression levels may rather be a biomarker of the internal dose of DNA damage than a biomarker of DNA repair capacity or a mix of the two.
Mutations
Note
The ERCC1 Asn118Asn polymorphism was found not to correlate with mRNA levels.
ERCC1 C8092A (rs3212986) was found to interact with smoking in relation to risk of lung cancer in a large case-control study. ERCC1 C8092A was found not to correlate with mRNA levels in peripheral blood cells.
Implicated in
The haplotype was not associated with risk of testis cancer or with risk of colorectal adenomas or colorectal cancer. Furthermore, the haplotype was not associated with risk of basal cell carcinoma among older persons (>60 years).These results indicate that the haplotype may be associated with risk of cancer primarily among young and middle aged persons and that it may be specific for women.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10910954 | 2000 | Reduced expression levels of nucleotide excision repair genes in lung cancer: a case-control analysis. | Cheng L et al |
| 8040325 | 1994 | Messenger RNA levels of XPAC and ERCC1 in ovarian cancer tissue correlate with response to platinum-based chemotherapy. | Dabholkar M et al |
| 12919963 | 2003 | DNA adduct formation and oxidative stress in colon and liver of Big Blue rats after dietary exposure to diesel particles. | Dybdahl M et al |
| 15277258 | 2004 | Single nucleotide polymorphisms and outcome in docetaxel-cisplatin-treated advanced non-small-cell lung cancer. | Isla D et al |
| 15885892 | 2005 | Polymorphisms in RAI and in genes of nucleotide and base excision repair are not associated with risk of testicular cancer. | Laska MJ et al |
| 7657672 | 1995 | Human DNA repair excision nuclease. Analysis of the roles of the subunits involved in dual incisions by using anti-XPG and anti-ERCC1 antibodies. | Matsunaga T et al |
| 16308313 | 2006 | DNA repair polymorphisms and cancer risk in non-smokers in a cohort study. | Matullo G et al |
| 16284380 | 2005 | Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study. | Matullo G et al |
| 16609022 | 2006 | Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. | Moreno V et al |
| 12771034 | 2003 | A specific haplotype of single nucleotide polymorphisms on chromosome 19q13.2-3 encompassing the gene RAI is indicative of post-menopausal breast cancer before age 55. | Nexø BA et al |
| 16957145 | 2006 | DNA repair by ERCC1 in non-small-cell lung cancer and cisplatin-based adjuvant chemotherapy. | Olaussen KA et al |
| 7559382 | 1995 | Purification and characterization of the XPF-ERCC1 complex of human DNA repair excision nuclease. | Park CH et al |
| 16224397 | 2003 | ERCC1 gene polymorphism as a predictor for clinical outcome in advanced colorectal cancer patients treated with platinum-based chemotherapy. | Park DJ et al |
| 12919962 | 2003 | Oxidative DNA damage and defence gene expression in the mouse lung after short-term exposure to diesel exhaust particles by inhalation. | Risom L et al |
| 15140544 | 2004 | Association between polymorphisms of ERCC1 and XPD and survival in non-small-cell lung cancer patients treated with cisplatin combination chemotherapy. | Ryu JS et al |
| 16914027 | 2006 | Increased mRNA expression levels of ERCC1, OGG1 and RAI in colorectal adenomas and carcinomas. | Saebø M et al |
| 16817948 | 2006 | Effects of polymorphisms in ERCC1, ASE-1 and RAI on the risk of colorectal carcinomas and adenomas: a case control study. | Skjelbred CF et al |
| 3919454 | 1985 | Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells. | Thompson LH et al |
| 11056291 | 2000 | DNA repair capacity: inconsistency between effect of over-expression of five NER genes and the correlation to mRNA levels in primary lymphocytes. | Vogel U et al |
| 14757194 | 2004 | Two regions in chromosome 19q13.2-3 are associated with risk of lung cancer. | Vogel U et al |
| 12189194 | 2002 | Inter-individual variation, seasonal variation and close correlation of OGG1 and ERCC1 mRNA levels in full blood from healthy volunteers. | Vogel U et al |
| 16054657 | 2006 | ERCC1, XPD and RAI mRNA levels in lymphocytes are not associated with lung cancer risk in a prospective study of Danes. | Vogel U et al |
| 15936590 | 2005 | Effect of polymorphisms in XPD, RAI, ASE-1 and ERCC1 on the risk of basal cell carcinoma among Caucasians after age 50. | Vogel U et al |
| 16690207 | 2007 | Gene-environment interactions between smoking and a haplotype of RAI, ASE-1 and ERCC1 polymorphisms among women in relation to risk of lung cancer in a population-based study. | Vogel U et al |
| 8797573 | 1996 | Reduced DNA repair capacity in lung cancer patients. | Wei Q et al |
| 16679872 | 2006 | Effects of ERCC1 expression in peripheral blood on the risk of head and neck cancer. | Yang M et al |
| 15734977 | 2005 | Gene-smoking interaction associations for the ERCC1 polymorphisms in the risk of lung cancer. | Zhou W et al |
Other Information
Locus ID:
NCBI: 2067
MIM: 126380
HGNC: 3433
Ensembl: ENSG00000012061
Variants:
dbSNP: 2067
ClinVar: 2067
TCGA: ENSG00000012061
COSMIC: ERCC1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA10352 | palonosetron | Chemical | ClinicalAnnotation | associated | PD | 29177570 | |
| PA128406956 | fluorouracil | Chemical | ClinicalAnnotation | associated | PD | 21057378, 23314736, 28796378 | |
| PA131285527 | oxaliplatin | Chemical | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 23314736, 25069034, 27498158, 29662106 | |
| PA150595617 | platinum | Chemical | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA164713176 | Platinum compounds | Chemical | ClinicalAnnotation | associated | PD | 18347182, 19203783, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 23962907, 25069034, 27498158, 28796378, 29662106 | |
| PA166122986 | radiotherapy | Chemical | ClinicalAnnotation | associated | PD | 25026457, 28796378 | |
| PA166170245 | febrile neutropenia | Disease | ClinicalAnnotation | associated | PD | ||
| PA443560 | Breast Neoplasms | Disease | ClinicalAnnotation | associated | PD | 25495407 | |
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 18347182, 19203783, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 23962907, 25069034, 27498158, 29662106 | |
| PA443756 | Colonic Neoplasms | Disease | ClinicalAnnotation | associated | PD | 23314736 | |
| PA444101 | Esophageal Neoplasms | Disease | ClinicalAnnotation | associated | PD | 18347182, 19203783, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 23962907, 25069034, 27498158, 29662106 | |
| PA444937 | Mesothelioma | Disease | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA444985 | Multiple Myeloma | Disease | ClinicalAnnotation | associated | PD | 21435719 | |
| PA445048 | Nausea | Disease | ClinicalAnnotation | associated | PD | 29177570 | |
| PA445062 | Neoplasms | Disease | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29177570, 29662106 | |
| PA445204 | Ovarian Neoplasms | Disease | ClinicalAnnotation | associated | PD | 18347182, 19203783, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA445218 | Pancreatic Neoplasms | Disease | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA445503 | Rectal Neoplasms | Disease | ClinicalAnnotation | associated | PD | 25026457 | |
| PA445742 | Stomach Neoplasms | Disease | ClinicalAnnotation | associated | PD | 28796378 | |
| PA445828 | Testicular Neoplasms | Disease | ClinicalAnnotation | associated | PD | ||
| PA446051 | Vomiting | Disease | ClinicalAnnotation | associated | PD | 29177570 | |
| PA446108 | Colorectal Neoplasms | Disease | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA448645 | bleomycin | Chemical | ClinicalAnnotation | associated | PD | ||
| PA448771 | capecitabine | Chemical | ClinicalAnnotation | associated | PD | 25026457 | |
| PA448803 | carboplatin | Chemical | ClinicalAnnotation | associated | PD | 18347182, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 25069034, 27498158, 29662106 | |
| PA449014 | cisplatin | Chemical | ClinicalAnnotation | associated | PD | 18347182, 19203783, 19362955, 19786980, 21057378, 21262916, 21902499, 22026922, 22188361, 22329723, 23962907, 25069034, 27498158, 29662106 | |
| PA449165 | cyclophosphamide | Chemical | ClinicalAnnotation | associated | PD | 19786980, 22188361 | |
| PA449383 | docetaxel | Chemical | ClinicalAnnotation | associated | PD | 25495407 | |
| PA449412 | doxorubicin | Chemical | ClinicalAnnotation | associated | PD | ||
| PA449552 | etoposide | Chemical | ClinicalAnnotation | associated | PD | ||
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD | ||
| PA449809 | granisetron | Chemical | ClinicalAnnotation | associated | PD | 29177570 | |
| PA450198 | leucovorin | Chemical | ClinicalAnnotation | associated | PD | 21057378, 23314736 | |
| PA450761 | paclitaxel | Chemical | ClinicalAnnotation | associated | PD | 25495407 | |
| PA451644 | thalidomide | Chemical | ClinicalAnnotation | associated | PD | 21435719 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38479279 | 2024 | Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis. | 1 |
| 38479279 | 2024 | Relationship between ERCC1 and XPC polymorphisms and the susceptibility to head and neck carcinoma: A systematic review, meta-analysis, and trial sequential analysis. | 1 |
| 36070459 | 2023 | Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility. | 1 |
| 36594475 | 2023 | Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso. | 2 |
| 36708557 | 2023 | Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma. | 1 |
| 37510370 | 2023 | ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia. | 1 |
| 36070459 | 2023 | Association of ERCC1 and XPF polymorphisms with pediatric glioma susceptibility. | 1 |
| 36594475 | 2023 | Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso. | 2 |
| 36708557 | 2023 | Genetic Polymorphisms in ERCC1 Gene and Their Association with Response to Radiotherapy in Moroccan Patients with Nasopharyngeal Carcinoma. | 1 |
| 37510370 | 2023 | ERCC1 and MGMT Methylation as a Predictive Marker of Relapse and FOLFOX Response in Colorectal Cancer Patients from South Tunisia. | 1 |
| 33764811 | 2022 | Predictive Value of ERCC1 mRNA Level from Receiver-Operator Characteristic and Pretreatment EBV-DNA Virus Load in Stage II Nasopharyngeal Carcinoma Patients Receiving Intensity-Modulated Radiotherapy with Concurrent Cisplatin. | 0 |
| 35627777 | 2022 | Modification Effect of PARP4 and ERCC1 Gene Polymorphisms on the Relationship between Particulate Matter Exposure and Fasting Glucose Level. | 2 |
| 36181289 | 2022 | A miR-15a related polymorphism affects NSCLC prognosis via altering ERCC1 repair to platinum-based chemotherapy. | 2 |
| 36277013 | 2022 | Association between ERCC1 Gene Polymorphism (rs11615) and Colorectal Cancer Susceptibility: A Meta-Analysis of Medical Image Fusion and Safety Applications. | 0 |
| 36713431 | 2022 | Perspectives of ERCC1 in early-stage and advanced cervical cancer: From experiments to clinical applications. | 3 |
Citation
Ulla Vogel
ERCC1 (excision repair complementing defective repair in Chinese hamster.)
Atlas Genet Cytogenet Oncol Haematol. 2006-12-01
Online version: http://atlasgeneticsoncology.org/gene/40481/ercc1-(excision-repair-complementing-defective-repair-in-chinese-hamster-)
