Gene Symbol: XPF
Description: ERCC excision repair 4, endonuclease catalytic subunit
Alias: ERCC11, FANCQ, RAD1, XFEPS, XPF, DNA repair endonuclease XPF, DNA excision repair protein ERCC-4, DNA repair protein complementing XP-F cells, excision repair cross-complementation group 4, excision repair cross-complementing rodent repair deficiency, complementation group 4, excision-repair, complementing defective, in Chinese hamster, xeroderma pigmentosum group F-complementing protein, xeroderma pigmentosum, complementation group F
Species: human
Products:     XPF

Top Publications

  1. Shi T, He J, Qiu L, Zhu M, Wang M, Zhou X, et al. Association between XPF polymorphisms and cancer risk: a meta-analysis. PLoS ONE. 2012;7:e38606 pubmed publisher
    Xeroderma pigmentosum complementation group F (XPF or ERCC4) plays a key role in DNA repair that protects against genetic instability and carcinogenesis...
  2. Lee S, Lee K, Park W, Kim B, Nam J, Yoo K, et al. Obesity and genetic polymorphism of ERCC2 and ERCC4 as modifiers of risk of breast cancer. Exp Mol Med. 2005;37:86-90 pubmed
    ..Our finding suggests that the combined effect of ERCC2 Asp(312)Asn and ERCC4 Ser(835)Ser genotypes might be associated with breast cancer risk in Korean women. ..
  3. Ming Shiean H, Yu J, Wang H, Chen S, Hsiung C, Ding S, et al. Synergistic effects of polymorphisms in DNA repair genes and endogenous estrogen exposure on female breast cancer risk. Ann Surg Oncol. 2010;17:760-71 pubmed
    ..05). This study demonstrates that genotype polymorphisms related to DNA damage repair confer greater susceptibility to endogenous estrogen in the development of breast cancer in women. ..
  4. Fisher L, Bessho M, Bessho T. Processing of a psoralen DNA interstrand cross-link by XPF-ERCC1 complex in vitro. J Biol Chem. 2008;283:1275-81 pubmed
    ..To investigate a role of the XPF-ERCC1 complex in this process, we designed a model substrate DNA with a single psoralen ICL at a three-way junction ..
  5. Tripsianes K, Folkers G, Ab E, Das D, Odijk H, Jaspers N, et al. The structure of the human ERCC1/XPF interaction domains reveals a complementary role for the two proteins in nucleotide excision repair. Structure. 2005;13:1849-58 pubmed
    The human ERCC1/XPF complex is a structure-specific endonuclease with defined polarity that participates in multiple DNA repair pathways...
  6. Wang M, Yuan L, Wu D, Yin C, Fu G, Wei Q, et al. A novel XPF -357A>C polymorphism predicts risk and recurrence of bladder cancer. Oncogene. 2010;29:1920-8 pubmed publisher
    Xeroderma pigmentosum group F (XPF) has an essential role in the nucleotide excision repair pathway that removes a wide variety of DNA lesions...
  7. Wang A, Sengerová B, Cattell E, Inagawa T, Hartley J, Kiakos K, et al. Human SNM1A and XPF-ERCC1 collaborate to initiate DNA interstrand cross-link repair. Genes Dev. 2011;25:1859-70 pubmed publisher
    ..are Mus81-induced, indicating that replication fork cleavage by Mus81 results from the failure of the hSNM1A- and XPF-ERCC1-dependent ICL repair pathway...
  8. Munoz I, Hain K, Déclais A, Gardiner M, Toh G, Sanchez Pulido L, et al. Coordination of structure-specific nucleases by human SLX4/BTBD12 is required for DNA repair. Mol Cell. 2009;35:116-27 pubmed publisher
    ..Slx4 also interacts with the Rad1-Rad10 endonuclease to control cleavage of 3' flaps during repair of double-strand breaks (DSBs)...
  9. Welsh C, Day R, McGurk C, Masters J, Wood R, Köberle B. Reduced levels of XPA, ERCC1 and XPF DNA repair proteins in testis tumor cell lines. Int J Cancer. 2004;110:352-61 pubmed
    ..DNA damage and found that they had low levels of the DNA nucleotide excision repair proteins XPA, ERCC1 and XPF. To determine whether low levels of XPA, ERCC1 and XPF proteins are characteristic of testis tumor cell lines, we ..

More Information


  1. Joshi A, Corral R, Siegmund K, Haile R, Le Marchand L, Martinez M, et al. Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. Carcinogenesis. 2009;30:472-9 pubmed publisher
    ..NER) (ERCC1 3' untranslated region (UTR) G/T, XPD Asp312Asn and Lys751Gln, XPC intron 11 C/A, XPA 5' UTR C/T, XPF Arg415Gln and XPG Asp1104His) and mismatch repair (MLH1 Ile219Val and MSH2 Gly322Asp) pathways modified the ..
  2. Kim Y, Spitz G, Veturi U, Lach F, Auerbach A, Smogorzewska A. Regulation of multiple DNA repair pathways by the Fanconi anemia protein SLX4. Blood. 2013;121:54-63 pubmed publisher
    ..It interacts with and enhances the activity of XPF-ERCC1, MUS81-EME1, and SLX1 nucleases, but the requirement for the specific nucleases in SLX4 function is unclear...
  3. Hung R, Christiani D, Risch A, Popanda O, Haugen A, Zienolddiny S, et al. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. Cancer Epidemiol Biomarkers Prev. 2008;17:3081-9 pubmed publisher
    ..pooled for 18 sequence variants in 12 DNA repair genes, including APEX1, OGG1, XRCC1, XRCC2, XRCC3, ERCC1, XPD, XPF, XPG, XPA, MGMT, and TP53...
  4. Ciccia A, Ling C, Coulthard R, Yan Z, Xue Y, Meetei A, et al. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. Mol Cell. 2007;25:331-43 pubmed
    ..FAAP24 shares homology with the XPF family of flap/fork endonucleases, associates with the C-terminal region of FANCM, and is a component of the FA ..
  5. Shen M, Jones I, Mohrenweiser H. Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res. 1998;58:604-8 pubmed
    ..have been identified in resequencing of the exons of three nucleotide excision repair genes (ERCC1, XPD, and XPF), a gene involved in double-strand break repair/recombination genes (XRCC3), and a gene functioning in base ..
  6. Smith T, Levine E, Freimanis R, Akman S, Allen G, Hoang K, et al. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Carcinogenesis. 2008;29:2132-8 pubmed publisher
    ..006), respectively. Our results suggest that combined nsSNPs in multiple DNA repair pathways may contribute to breast cancer risk and larger studies are warranted to further evaluate polygenic models of DNA repair in breast cancer risk. ..
  7. Milne R, Ribas G, Gonzalez Neira A, Fagerholm R, Salas A, Gonzalez E, et al. ERCC4 associated with breast cancer risk: a two-stage case-control study using high-throughput genotyping. Cancer Res. 2006;66:9420-7 pubmed
    ..This study suggests that common intronic variation in ERCC4 is associated with protection from breast cancer. ..
  8. Han J, Haiman C, Niu T, Guo Q, Cox D, Willett W, et al. Genetic variation in DNA repair pathway genes and premenopausal breast cancer risk. Breast Cancer Res Treat. 2009;115:613-22 pubmed publisher
    ..Four variants were associated with breast cancer risk with a significance level of <0.01; two in the XPF gene and two in the XRCC3 gene...
  9. Garcia Closas M, Malats N, Real F, Welch R, Kogevinas M, Chatterjee N, et al. Genetic variation in the nucleotide excision repair pathway and bladder cancer risk. Cancer Epidemiol Biomarkers Prev. 2006;15:536-42 pubmed
    ..A detailed characterization of genetic variation in key NER genes is warranted and might ultimately help identify multiple susceptibility variants that could be responsible for substantial joint increases in risk. ..
  10. Andersen S, Bergstralh D, Kohl K, Larocque J, Moore C, Sekelsky J. Drosophila MUS312 and the vertebrate ortholog BTBD12 interact with DNA structure-specific endonucleases in DNA repair and recombination. Mol Cell. 2009;35:128-35 pubmed publisher
    ..Genetic and biochemical evidence described here and in related papers suggest that MUS312 and BTBD12 direct Holliday junction resolution by at least two distinct endonucleases in different recombination and repair contexts. ..
  11. Rajaraman P, Bhatti P, Doody M, Simon S, Weinstock R, Linet M, et al. Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists. Int J Cancer. 2008;123:2713-6 pubmed publisher
    ..cancer conferred by radiation was modified by nucleotide excision gene polymorphisms ERCC2 (XPD) rs13181, ERCC4 (XPF) rs1800067 and rs1800124, ERCC5 (XPG) rs1047769 and rs17655; and ERCC6 rs2228526...
  12. Kim Y, Lach F, Desetty R, Hanenberg H, Auerbach A, Smogorzewska A. Mutations of the SLX4 gene in Fanconi anemia. Nat Genet. 2011;43:142-6 pubmed publisher
  13. Köberle B, Ditz C, Kausch I, Wollenberg B, Ferris R, Albers A. Metastases of squamous cell carcinoma of the head and neck show increased levels of nucleotide excision repair protein XPF in vivo that correlate with increased chemoresistance ex vivo. Int J Oncol. 2010;36:1277-84 pubmed
    ..exquisite sensitivity towards cisplatin, and this has been connected to low levels of the NER proteins ERCC1 and XPF. Tumours of some patients with advanced head and neck squamous cell carcinoma (HNSCC) regress well under cisplatin ..
  14. Vaezi A, Wang X, Buch S, Gooding W, Wang L, Seethala R, et al. XPF expression correlates with clinical outcome in squamous cell carcinoma of the head and neck. Clin Cancer Res. 2011;17:5513-22 pubmed publisher
    ..b>XPF (ERCC4) is an essential component of several DNA repair pathways and XPF-deficient cells are exquisitely sensitive ..
  15. Tsodikov O, Enzlin J, SCHARER O, Ellenberger T. Crystal structure and DNA binding functions of ERCC1, a subunit of the DNA structure-specific endonuclease XPF-ERCC1. Proc Natl Acad Sci U S A. 2005;102:11236-41 pubmed
    Human XPF-ERCC1 is a DNA endonuclease that incises a damaged DNA strand on the 5' side of a lesion during nucleotide excision repair and has additional role(s) in homologous recombination and DNA interstrand crosslink repair...
  16. Shen M, Berndt S, Rothman N, DeMarini D, Mumford J, He X, et al. Polymorphisms in the DNA nucleotide excision repair genes and lung cancer risk in Xuan Wei, China. Int J Cancer. 2005;116:768-73 pubmed
    ..single nucleotide polymorphisms (SNPs) and their corresponding haplotypes in 6 genes (ERCC1, ERCC2/XPD, ERCC4/XPF, ERCC5/XPG, RAD23B and XPC) involved in NER in a population-based case-control study of lung cancer in Xuan Wei...
  17. Bowles M, Lally J, Fadden A, Mouilleron S, Hammonds T, McDonald N. Fluorescence-based incision assay for human XPF-ERCC1 activity identifies important elements of DNA junction recognition. Nucleic Acids Res. 2012;40:e101 pubmed publisher
    The structure-specific endonuclease activity of the human XPF-ERCC1 complex is essential for a number of DNA processing mechanisms that help to maintain genomic integrity...
  18. Kashiyama K, Nakazawa Y, Pilz D, Guo C, Shimada M, Sasaki K, et al. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013;92:807-19 pubmed publisher
    ..In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF)...
  19. Koberle B, Masters J, Hartley J, Wood R. Defective repair of cisplatin-induced DNA damage caused by reduced XPA protein in testicular germ cell tumours. Curr Biol. 1999;9:273-6 pubmed
    ..amounts of most NER proteins, but low levels of the xeroderma pigmentosum group A protein (XPA) and the ERCC1-XPF endonuclease complex. Addition of XPA specifically conferred full NER capacity on the testis tumour extracts...
  20. de Laat W, Sijbers A, Odijk H, Jaspers N, Hoeijmakers J. Mapping of interaction domains between human repair proteins ERCC1 and XPF. Nucleic Acids Res. 1998;26:4146-52 pubmed
    ..Like its homologous complex in Saccharomyces cerevisiae , Rad10-Rad1, it acts as a structure-specific DNA endonuclease, cleaving at duplex-single-stranded DNA junctions...
  21. Zhang J, Zhang C, Yan X, Yuan Z, Duan Z, Gao H. Effect of Xeroderma pigmentosum complementation group F polymorphisms on gastric cancer risk and associations with H.pylori infection. Asian Pac J Cancer Prev. 2013;14:1847-50 pubmed
    ..single nucleotide polymorphisms (SNPs) to assess the association of Xeroderma pigmentosum complementation group F (XPF) with gastric cancer susceptibility, and role of XPF polymorphisms in combination with H...
  22. Sijbers A, van Voorst Vader P, Snoek J, Raams A, Jaspers N, Kleijer W. Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease. J Invest Dermatol. 1998;110:832-6 pubmed
    ..The recent cloning of the XPF gene allowed a molecular genetic analysis of this unusual patient...
  23. Brookman K, Lamerdin J, Thelen M, Hwang M, Reardon J, Sancar A, et al. ERCC4 (XPF) encodes a human nucleotide excision repair protein with eukaryotic recombination homologs. Mol Cell Biol. 1996;16:6553-62 pubmed
    ..The ERCC1-ERCC4 heterodimer, like the homologous Rad10-Rad1 complex, was recently found to possess an endonucleolytic activity that incises on the 5' side of damage...
  24. Osorio A, Bogliolo M, Fernandez V, Barroso A, de la Hoya M, Caldes T, et al. Evaluation of rare variants in the new fanconi anemia gene ERCC4 (FANCQ) as familial breast/ovarian cancer susceptibility alleles. Hum Mutat. 2013;34:1615-8 pubmed publisher
    Recently, it has been reported that biallelic mutations in the ERCC4 (FANCQ) gene cause Fanconi anemia (FA) subtype FA-Q...
  25. Sijbers A, de Laat W, Ariza R, Biggerstaff M, Wei Y, Moggs J, et al. Xeroderma pigmentosum group F caused by a defect in a structure-specific DNA repair endonuclease. Cell. 1996;86:811-22 pubmed
    ..These results demonstrate that the XPF, ERCC4, and ERCC11 genes are equivalent, complete the isolation of the XP genes that form the core nucleotide excision repair system, ..
  26. Agalliu I, Kwon E, Salinas C, Koopmeiners J, Ostrander E, Stanford J. Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study. Cancer Causes Control. 2010;21:289-300 pubmed publisher
    ..Given the complexity of this pathway and its crucial role in maintenance of genomic stability, a pathway-based analysis of all 150 genes in DNA repair pathways, as well as exploration of gene-environment interactions may be warranted. ..
  27. Gaudet M, Milne R, Cox A, Camp N, Goode E, Humphreys M, et al. Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium. Cancer Epidemiol Biomarkers Prev. 2009;18:1610-6 pubmed publisher
  28. Matullo G, Guarrera S, Sacerdote C, Polidoro S, Davico L, Gamberini S, et al. Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study. Cancer Epidemiol Biomarkers Prev. 2005;14:2569-78 pubmed
    ..03-0.81). Our results suggest that polymorphisms and/or haplotypes in XRCC3, XRCC1, and PCNA genes and spanning XPD-ERCC1 region may modulate bladder cancer risk and that some of these effects may preferentially affect current smokers. ..
  29. Liu P, Siciliano J, White B, Legerski R, Callen D, Reeders S, et al. Regional mapping of human DNA excision repair gene ERCC4 to chromosome 16p13.13-p13.2. Mutagenesis. 1993;8:199-205 pubmed
    ..13-p13.2 and allowed the following order of markers within the region to be established: pter--(PRM1, D16S215)-D16S213-D16S53-(D16S214,ERCC4) -D16S3-D16S96-cen. ..
  30. Matsumura Y, Nishigori C, Yagi T, Imamura S, Takebe H. Characterization of molecular defects in xeroderma pigmentosum group F in relation to its clinically mild symptoms. Hum Mol Genet. 1998;7:969-74 pubmed
    ..Recently a cDNA that corrects the repair deficiency of cultured XP-F cells was isolated. The XPF protein forms a tight complex with ERCC1 and this complex functions as a structure-specific endonuclease ..
  31. Smith T, Levine E, Perrier N, Miller M, Freimanis R, Lohman K, et al. DNA-repair genetic polymorphisms and breast cancer risk. Cancer Epidemiol Biomarkers Prev. 2003;12:1200-4 pubmed
    ..and XRCC1 Arg399Gln in base excision repair, XRCC3 Thr241Met in homologous recombination repair, and ERCC4/XPF Arg415Gln in nucleotide excision repair...
  32. Kornguth D, Garden A, Zheng Y, Dahlstrom K, Wei Q, Sturgis E. Gastrostomy in oropharyngeal cancer patients with ERCC4 (XPF) germline variants. Int J Radiat Oncol Biol Phys. 2005;62:665-71 pubmed
    ERCC4 (XPF) plays a role in both recombinant DNA repair and nucleotide excision repair, which involve repairing radiation-induced genetic damage...
  33. Weiss J, Weiss N, Ulrich C, Doherty J, Voigt L, Chen C. Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer. Cancer Epidemiol Biomarkers Prev. 2005;14:2524-30 pubmed
    ..Genotyping assays were done for ERCC1, ERCC2 (XPD), ERCC4 (XPF), ERCC5 (XPG), XPA, and XPC...
  34. Sugimura T, Kumimoto H, Tohnai I, Fukui T, Matsuo K, Tsurusako S, et al. Gene-environment interaction involved in oral carcinogenesis: molecular epidemiological study for metabolic and DNA repair gene polymorphisms. J Oral Pathol Med. 2006;35:11-8 pubmed
    ..OSCC was evaluated in 10 genetic polymorphisms of nine genes, such as CYP1A1, CYP2E1, GSTM1, GSTT1, XPA, XPC, XPC, XPF and ERCC1. Gene-environment interaction was also evaluated...
  35. Huang W, Berndt S, Kang D, Chatterjee N, Chanock S, Yeager M, et al. Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: XPC polymorphisms modify smoking-related risk. Cancer Epidemiol Biomarkers Prev. 2006;15:306-11 pubmed
    ..nonsynonymous SNPs in seven-nucleotide excision repair genes [XPC, RAD23B (hHR23B), CSB (ERCC6), XPD (ERCC2), CCNH, XPF (ERCC4), and XPG (ERCC5)] were genotyped...
  36. Shao M, Ma H, Wang Y, Xu L, Yuan J, Wang Y, et al. Polymorphisms in excision repair cross-complementing group 4 (ERCC4) and susceptibility to primary lung cancer in a Chinese Han population. Lung Cancer. 2008;60:332-9 pubmed
    ERCC4/XPF protein plays an important role in the nucleotide excision repair (NER) pathway, and deficiencies in the gene encoding it can lead to a repair-deficiency syndrome, xeroderma pigmentosum group F (XP-F)...
  37. Fousteri M, Vermeulen W, Van Zeeland A, Mullenders L. Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo. Mol Cell. 2006;23:471-82 pubmed
    ..These results give insight into the nature and order of molecular events that take place during TCR in the context of chromosomal DNA. ..
  38. Povey J, Darakhshan F, Robertson K, Bisset Y, Mekky M, Rees J, et al. DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. Carcinogenesis. 2007;28:1087-93 pubmed
    ..Significant associations were found for the NER genes ERCC1 and XPF, with the strongest associations for melanoma cases aged 50 and under [ERCC1 odds ratio (OR) 1.59, P = 0...
  39. Ding D, He X, Zhang Y. Lack of association between XPG Asp1104His and XPF Arg415Gln polymorphism and breast cancer risk: a meta-analysis of case-control studies. Breast Cancer Res Treat. 2011;129:203-9 pubmed publisher
    The xeroderma pigmentosum group G (XPG or ERCC5) and group F (XPF or ERCC4) play an important role in DNA repair, and produce dual incision 3' and 5' to the damaged nucleotide fragment...
  40. Hooker S, Bonilla C, Akereyeni F, Ahaghotu C, Kittles R. NAT2 and NER genetic variants and sporadic prostate cancer susceptibility in African Americans. Prostate Cancer Prostatic Dis. 2008;11:349-56 pubmed
    ..Fourteen single nucleotide polymorphisms in NAT2 and four NER genes (ERCC1, XPF/ERCC4, XPG/ERCC5 and CSB/ERCC6) were genotyped in a case-control study of 254 African-American prostate cancer ..
  41. Fan F, Liu C, Tavare S, Arnheim N. Polymorphisms in the human DNA repair gene XPF. Mutat Res. 1999;406:115-20 pubmed
    DNA sequence polymorphisms were sought in the coding region and at the exon-intron boundaries of the human XPF gene, which plays a role in nucleotide excision repair...
  42. Chang J, Wrensch M, Hansen H, Sison J, Aldrich M, Quesenberry C, et al. Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans. Int J Cancer. 2008;123:2095-104 pubmed publisher
    ..61; 95% CI: 0.42-0.88). Our study suggests different elements of the NER pathway may be important in the different ethnic groups resulting either from different linkage relationship, genetic backgrounds and/or exposure histories. ..
  43. Zhu X, Niedernhofer L, Kuster B, Mann M, Hoeijmakers J, de Lange T. ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol Cell. 2003;12:1489-98 pubmed
    ..Here we report that ERCC1/XPF-deficient cells retained the telomeric overhang after TRF2 inhibition, identifying this nucleotide excision repair ..
  44. Das D, Folkers G, van Dijk M, Jaspers N, Hoeijmakers J, Kaptein R, et al. The structure of the XPF-ssDNA complex underscores the distinct roles of the XPF and ERCC1 helix- hairpin-helix domains in ss/ds DNA recognition. Structure. 2012;20:667-75 pubmed publisher
    Human XPF/ERCC1 is a structure-specific DNA endonuclease that nicks the damaged DNA strand at the 5' end during nucleotide excision repair. We determined the structure of the complex of the C-terminal domain of XPF with 10 nt ssDNA...
  45. Motycka T, Bessho T, Post S, Sung P, Tomkinson A. Physical and functional interaction between the XPF/ERCC1 endonuclease and hRad52. J Biol Chem. 2004;279:13634-9 pubmed
    The XPF/ERCC1 heterodimer is a DNA structure-specific endonuclease that participates in nucleotide excision repair and homology-dependent recombination reactions, including DNA single strand annealing and gene targeting...
  46. Kiyohara C, Yoshimasu K. Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. Int J Med Sci. 2007;4:59-71 pubmed
    ..on xeroderma pigmentosum group A (XPA), excision repair cross complementing group 1 (ERCC1), ERCC2/XPD, ERCC4/XPF and ERCC5/XPG...
  47. Zienolddiny S, Campa D, Lind H, Ryberg D, Skaug V, Stangeland L, et al. Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis. 2006;27:560-7 pubmed
    ..SNPs) in 20 DNA repair genes including nucleotide excision repair (NER) genes XPA, ERCC1, ERCC2/XPD, ERCC4/XPF and ERCC5/XPG; base excision repair (BER) genes APE1/APEX, OGG1, MPG, XRCC1, PCNA, POLB, POLiota, LIG3 and EXO1; ..
  48. McWilliams R, Bamlet W, Cunningham J, Goode E, de Andrade M, Boardman L, et al. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. Cancer Res. 2008;68:4928-35 pubmed publisher
    ..Allele and genotype frequencies for 16 SNPs in DNA repair genes ERCC1, XPD/ERCC2, XPC, XPF/ERCC4, OGG1, and XRCC1 were compared after adjusting for age, sex, and smoking history...
  49. Mechanic L, Millikan R, Player J, de Cotret A, Winkel S, Worley K, et al. Polymorphisms in nucleotide excision repair genes, smoking and breast cancer in African Americans and whites: a population-based case-control study. Carcinogenesis. 2006;27:1377-85 pubmed
    ..coding polymorphisms in six NER genes (XPD codons 312 and 751, RAD23B codon 249, XPG codon 1104, XPC codon 939, XPF codons 415 and 662, and ERCC6 codons 1213 and 1230)...
  50. Fekairi S, Scaglione S, Chahwan C, Taylor E, Tissier A, Coulon S, et al. Human SLX4 is a Holliday junction resolvase subunit that binds multiple DNA repair/recombination endonucleases. Cell. 2009;138:78-89 pubmed publisher
    ..Furthermore, we show that SLX4 binds the XPF(ERCC4) and MUS81 subunits of the XPF-ERCC1 and MUS81-EME1 endonucleases and is required for DNA interstrand ..
  51. Jorgensen T, Helzlsouer K, Clipp S, Bolton J, Crum R, Visvanathan K. DNA repair gene variants associated with benign breast disease in high cancer risk women. Cancer Epidemiol Biomarkers Prev. 2009;18:346-50 pubmed publisher
    ..68; 95% CI, 1.52-4.66; P(interaction) = 0.02). This study suggests that variant alleles in DNA repair genes may modify BBD risk, a potential intermediate marker of breast cancer risk, particularly among high-risk subgroups. ..
  52. Jorgensen T, Visvanathan K, Ruczinski I, Thuita L, Hoffman S, Helzlsouer K. Breast cancer risk is not associated with polymorphic forms of xeroderma pigmentosum genes in a cohort of women from Washington County, Maryland. Breast Cancer Res Treat. 2007;101:65-71 pubmed
    ..Although mutated XP genes are rare, polymorphic forms with potential functional deficiencies are common, and could pose a significant cancer risk in the general population...
  53. Krupa R, Kasznicki J, Gajecka M, Rydzanicz M, Kiwerska K, Kaczmarczyk D, et al. Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population. Exp Oncol. 2011;33:55-6 pubmed
    ..1 (XRCC1) and excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4(XPF)) genes are important components of DNA excision repair systems, which repair DNA damage induced by various factors,..
  54. Millikan R, Hummer A, Begg C, Player J, de Cotret A, Winkel S, et al. Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study. Carcinogenesis. 2006;27:610-8 pubmed
    ..0, trend P = 0.002). No significant associations were observed for HR23B codon 249, XPG codon 1104, XPC codon 939, XPF codon 415, XPF nt 2063, ERCC6 codon 1213 or ERCC6 codon 1230...
  55. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013;92:800-6 pubmed publisher
    ..and Sanger sequencing on DNA of unclassified FA individuals and discovered biallelic germline mutations in ERCC4 (XPF), a structure-specific nuclease-encoding gene previously connected to xeroderma pigmentosum and segmental XFE ..
  56. Moreno V, Gemignani F, Landi S, Gioia Patricola L, Chabrier A, Blanco I, et al. Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res. 2006;12:2101-8 pubmed
    ..This knowledge may help to clarify the utility of specific adjuvant treatments according to the individual genetic background. ..