Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer

Gómez-Díaz,Benjamín; de la Luz Ayala-Madrigal,María; Gutiérrez-Angulo,Melva; Valle-Solis,Aura   Erazo; Linares-González,Luis   Miguel; González-Guzmán,Roberto; Cruz-Guillén,David; Cedeño-Garcidueñas,Ana  Lilia; Canto,Patricia; López-Hernández,Luz  Berenice

doi:10.3892/ol.2015.2894

Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer

Authors:
- Benjamín Gómez-Díaz
- María de la Luz Ayala-Madrigal
- Melva Gutiérrez-Angulo
- Aura Erazo Valle-Solis
- Luis Miguel Linares-González
- Roberto González-Guzmán
- David Cruz-Guillén
- Ana Lilia Cedeño-Garcidueñas
- Patricia Canto
- Luz Berenice López-Hernández
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Affiliations: National Institute of Rehabilitation, México City, México, Institute of Human Genetics, UCHS, University of Guadalajara, Wet Saw, Guadalajara, Jalisco, México, Department of Clinics, UCALTOS, University of Guadalajara, Tepatitlán, Jalisco, México, National Medical Centre '20th November,' Institute for Social Security of State Workers, México City, México, Obesity Research Unit, Faculty of Medicine, National Autonomous University of Mexico, México City, México
Published online on: January 26, 2015 https://doi.org/10.3892/ol.2015.2894
Pages: 1657-1661

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Abstract

The Asn118Asn (rs11615) variant in the ERCC1 gene, and the Lys751Gln (rs13181) and Asp312Asn (rs1799793) variants in the ERCC2 gene have been associated with the development of varied types of cancer. The aim of the present study was to test for any association between the ERCC1 and ERCC2 gene variants and three different types of cancer in Mexican‑mestizo patients. Patients and their respective controls were formed into three groups: The osteosarcoma group, with 28 patients and 97 controls; the colorectal group, with 108 patients and 119 controls; and the breast cancer group, with 71 patients and 74 controls. Genotyping was performed using TaqMan probes and quantitative polymerase chain reaction. Allele and genotype frequencies were compared using a χ2 test. Only one SNP (rs1799793) was found to be associated with breast cancer. This is the first study analyzing the SNPs in ERCC1 and ERCC2 genes and the susceptibility to cancer in Mexican‑mestizo patients with osteosarcoma, and colorectal and breast cancer.

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1	Wood RD, Mitchell M, Sgouros J and Lindahl T: Human DNA repair genes. Science. 291:1284–1289. 2001. View Article : Google Scholar : PubMed/NCBI
2	De Silva IU, McHugh PJ, Clingen PH and Hartley JA: Defining the roles of nucleotide excision repair and recombination in the repair of DNA interstrand cross-links in mammalian cells. Mol Cell Biol. 20:7980–7990. 2000. View Article : Google Scholar : PubMed/NCBI
3	Chen ZP, Malapetsa A, McQuillan A, et al: Evidence for nucleotide excision repair as a modifying factor of O6-methylguanine-DNA methyltransferase-mediated innate chloroethylnitrosourea resistance in human tumor cell lines. Mol Pharmacol. 52:815–820. 1997. View Article : Google Scholar : PubMed/NCBI
4	Goode EL, Ulrich CM and Potter JD: Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev. 11:1513–1530. 2002.PubMed/NCBI
5	Fontana L, Bosviel R, Delort L, et al: DNA repair gene ERCC2, XPC, XRCC1, XRCC3 polymorphisms and associations with bladder cancer risk in a french cohort. Anticancer Res. 28:1853–1856. 2008.PubMed/NCBI
6	Huang MY, Fang WY, Lee SC, Cheng TL, Wang JY and Lin SR: ERCC2 2251A>C genetic polymorphism was highly correlated with early relapse in high-risk stage II and stage III colorectal cancer patients: a preliminary study. BMC Cancer. 8:502008. View Article : Google Scholar :
7	Li J, Jin W, Chen Y, Di G, Wu J and Shao ZM: Genetic polymorphisms in the DNA repair enzyme ERCC2 and breast tumour risk in a Chinese population. J Int Med Res. 36:479–488. 2008. View Article : Google Scholar : PubMed/NCBI
8	Bernard-Gallon D, Bosviel R, Delort L, et al: DNA repair gene ERCC2 polymorphisms and associations with breast and ovarian cancer risk. Mol Cancer. 7:362008. View Article : Google Scholar : PubMed/NCBI
9	Yao L, Qiu LX, Yu L, et al: The association between ERCC2 Asp312Asn polymorphism and breast cancer risk: a meta-analysis involving 22,766 subjects. Breast Cancer Res Treat. 123:227–231. 2010. View Article : Google Scholar : PubMed/NCBI
10	Yang Z, Fang X, Pei X and Li H: Polymorphisms in the ERCC1 and XPF genes and risk of breast cancer in a Chinese population. Genet Test Mol Biomarkers. 17:700–706. 2013. View Article : Google Scholar : PubMed/NCBI
11	Tan X, Wang Y, Shi L, et al: Polymorphism of ERCC2 Asp312Asn with lung cancer risk: evidence from 20,101 subjects. Genet Test Mol Biomarkers. 18:50–56. 2014. View Article : Google Scholar
12	Wen F, Zhao Z, Liu C, et al: A pooled analysis of the ERCC2 Asp312Asn polymorphism and esophageal cancer susceptibility. Tumour Biol. 35:2959–2965. 2014. View Article : Google Scholar
13	Deng Q, Sheng L, Su D, et al: Genetic polymorphisms in ATM, ERCC1, APE1 and iASPP genes and lung cancer risk in a population of southeast china. Med Oncol. 28:667–672. 2011. View Article : Google Scholar
14	Lin H, Lin D and Zheng C: Association of XPD Lys751Gln polymorphism with head and neck cancer susceptibility: evidence from 11,443 subjects. Diagn Pathol. 9:152014. View Article : Google Scholar : PubMed/NCBI
15	Zhang L, Wang J, Xu L, et al: Nucleotide excision repair gene ERCC1 polymorphisms contribute to cancer susceptibility: a meta-analysis. Mutagenesis. 27:67–76. 2012. View Article : Google Scholar
16	Gustincich S, Manfioletti G, Del Sal G, Schneider C and Carninci P: A fast method for high-quality genomic DNA extraction from whole human blood. Biotechniques. 11:298–300. 3021991.PubMed/NCBI
17	Yu JJ, Lee KB, Mu C, et al: Comparison of two human ovarian carcinoma cell lines (A2780/CP70 and MCAS) that are equally resistant to platinum, but differ at codon 118 of the ERCC1 gene. Int J Oncol. 16:555–560. 2000.PubMed/NCBI
18	Lunn RM, Helzlsouer KJ, Parshad R, et al: XPD polymorphisms: effects on DNA repair proficiency. Carcinogenesis. 21:551–555. 2000. View Article : Google Scholar : PubMed/NCBI
19	Duell EJ, Wiencke JK, Cheng TJ, et al: Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis. 21:965–971. 2000. View Article : Google Scholar : PubMed/NCBI
20	Lichtenstein P, Holm NV, Verkasalo PK, et al: Environmental and heritable factors in the causation of cancer - analyses of cohorts of twins from Sweden, Denmark, and Finland. N Engl J Med. 343:78–85. 2000. View Article : Google Scholar : PubMed/NCBI
21	Yin M, Yan J, Martinez-Balibrea E, et al: ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. Clin Cancer Res. 17:1632–1640. 2011. View Article : Google Scholar : PubMed/NCBI
22	Adeyemo A and Rotimi C: Genetic variants associated with complex human diseases show wide variation across multiple populations. Public Health Genomics. 13:72–79. 2010. View Article : Google Scholar :
23	Paszkowska-Szczur K, Scott RJ, Gorski B, et al: Polymorphisms in nucleotide excision repair genes and susceptibility to colorectal cancer in the Polish population. Mol Biol Rep. 2014.PubMed/NCBI
24	Gao K, Mu SQ and Wu ZX: Investigation of the effects of single-nucleotide polymorphisms in DNA repair genes on the risk of glioma. Genet Mol Res. 13:1203–1211. 2014. View Article : Google Scholar : PubMed/NCBI
25	Chu H, Gu D, Xu M, et al: A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population. Mutagenesis. 28:441–446. 2013. View Article : Google Scholar : PubMed/NCBI