Association between single-nucleotide polymorphisms of selected genes involved in the response to DNA damage and risk of colon, head and neck, and breast cancers in a Polish population

• Autorzy: Jelonek K. , Gdowicz-Klosok A. , Pietrowska M. , Borkowska M. , Korfanty J. , Rzeszowska-Wolny J. , Widlak P.
• Języki publikacji: EN

Abstrakty

EN

Single-nucleotide polymorphisms in genes involved in DNA-damage-induced responses are reported frequently to be a risk factor in various cancer types. Here we analysed polymorphisms in 5 genes involved in DNA repair (XPD Asp312Asn and Lys751Gln, XRCC1 Arg399Gln, APE1 Aspl48Glu, NBS1 Glu185Gln, and XPA G-4A) and in a gene involved in regulation of the cell-cycle (CCND1 A870G). We compared their frequencies in groups of colon, head and neck, and breast cancer patients, and 2 healthy control groups: (1) matched healthy Polish individuals and (2) a NCBI database control group. Highly significant differences in the distribution of genotypes of the APE1, XRCC1 and CCND1 genes were found between colon cancer patients and healthy individuals. The 148Asp.APE1 allele and the 399Gln XRCC1 allele apparently increased the risk of colon cancer (OR = 1.9-2.3 and OR = 1.5-2.1, respectively). Additionally, frequencies of XPD genotypes differed between healthy controls and patients with colon or head and neck cancer. Importantly, no differences in the distribution of these polymorphisms were found between healthy controls and breast cancer patients. The data clearly indicate that the risk of colon cancer is associated with single-nucleotide polymorphism in genes involved in base-excision repair and DNA-damage-induced responses.

Słowa kluczowe

EN

base excision repair; breast cancer; colon cancer; DNA repair; gene polymorphism; head cancer; risk factor; gene; single-nucleotide polymorphism; neck cancer; Polish population; DNA damage

• Wydawca: -
• Czasopismo: Journal of Applied Genetics
• Rocznik: 2010
• Tom: 51
• Numer: 3
• Opis fizyczny: p.343-352,fig.,ref.

Twórcy

autor

Jelonek K.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Gdowicz-Klosok A.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Pietrowska M.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Borkowska M.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Korfanty J.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Rzeszowska-Wolny J.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

autor

Widlak P.

• Department of Experimental and Clinical Radiobiology, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Gliwice Branch, Wybrzeze Armii Krajowej 15, 44–100 Gliwice, Poland

Bibliografia

• Benhamou S, Sarasin A, 2002. ERCC2/XPD gene polymorphisms and cancer risk. Mutagenesis. 6: 463-469.
• Benhamou S, Sarasin A, 2005. ERCC2/XPD gene polymorphisms and lung cancer: a huge review. Am J Epidemiol. 161: 1-14.
• Betticher DC, Thatcher N, Altermatt HJ, Hoban P, Ryder DJ, Heighway J, 1995. Alternate splicing produces a novel cyclin D1 transcript. Oncogene 11: 1005-1011.
• Butkiewicz D, Rusin M, Enewold L, Shields PG, Chorazy M, Harris CC, 2001. Genetic polymorphisms in DNA repair genes and risk of lung cancer. Carcinogenesis 22: 593-597.
• Cheng L, Eicher SA, Guo Z, Hong WK, Spitz MR, Wei Q, 1998. Reduced DNA repair capacity in head and neck cancer patients. Cancer Epidemiol Biomarkers Prev 7: 465-468.
• Chiang JM, Chou YH, Chou TB, 1998. K-ras codon 12 mutation determines the polypoid growth of colorectal cancer. Cancer Res 58: 3289-3293.
• De Ruyck K, Szaumkessel M, De Rudder I, Dehoorne A, Vral A, Claes K, et al. 2007. Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat Res 631: 101-110.
• Excoffier L, Laval G, Schneider S, 2005. Arlequin ver. 3.0: An integrated software package for population genetics data analysis. Evolutionary Bioinformatics Online 1: 47-50.
• Goode EL, Ulrich CM, Potter JD, 2002. Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 12: 1513-1530.
• Gray J, 2008. State of the evidence: the connection between breast cancer and the environment. Breast Cancer Fund, San Francisco, 2008.
• Gu D, Wang Meilin, Wang Miaomiao, Zhang Z, Chen J, 2009. The DNA repair gene APE1 T1349G polymorphism and cancer risk: a meta-analysis of 27 case-control studies. Mutagenesis 24: 507-512.
• Hoeijmakers JH, 2001. Genome maintenance mechanisms for preventing cancer. Nature 411: 366-374.
• Hu JJ, Smith TR, Miller MS, 2001. Amino acid substitution variants of APE1 and XRCC1 genes associated with ionizing radiation sensitivity. Carcinogenesis 22: 917-922.
• Huang Y, Li L, Yu L, 2009. XRCC1 Arg399Gln, Arg194Trp and Arg280His polymorphisms in breast cancer risk: a meta-analysis. Mutagenesis 24: 331-339.
• Improta G, Sgambato A, Bianchino G, Zupa A, Grieco V, La Torre G, et al. 2008. Polymorphisms of the DNA repairgenesXRCC1 and XRCC3 and risk of lung and colorectal cancer: a case-control study in a Southern Italian population. Anticancer Res 28: 2941-2946.
• Jiang Z, Li C, Xu Y, Cai S, 2010. A meta-analysis on XRCC1 and XRCC3 polymorphisms and colorectal cancer risk. Int J Colorectal Dis 25: 169-180.
• Jiricny J, Marra G, 2003. DNA repair defects in colon cancer. Curr Opin Genet 13: 61-69.
• Khan SG, Muniz-Medina V, Shahlavi T, Baker CC, Inui H, Ueda T, et al. 2002. The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function. Nucleic Acids Res 30: 3624-3631.
• Khanna KK, Lavin MF, Jackson SP, Mulhern TD, 2001. ATM, a central controller of cellular responses to DNA damage. Cell Death Differ 8: 1052-1065.
• Kiyoharaa C, Takayamab K, Nakanishib Y, 2006. Association of genetic polymorphisms in the base excision repair pathway with lung cancer risk: a meta-analysis. Lung Cancer 54: 267-283.
• Kong S, Amos CI, Lutlira R, Lynch PM, Levin B, Frazier ML, 2000. Effects of cyclin D1 polymorphism on age onset of hereditary nonpolyposis colorectal cancer. Cancer Res 60: 249-252.
• Kowalski M, Przybyłowska K, Rusin P, Olszewski J, Morawiec-Sztandera A, Bielecka-Kowalska A, et al. 2009. Genetic polymorphisms in DNA base excision repair gene XRCC1 and the risk of squamous cell carcinoma of the head and neck. J Exp Clin Cancer Res 28: 37.
• Lewin F, Norell SE, Johansson H, Gustavsson P, Wenneberg J, Biorklund A, Rutqvist LE, 1998. Smoking tobacco, oral snuff, and alcohol in the etiology of squamous cell carcinoma of the head and neck; a population-based case-referent study in Sweden. Cancer 82: 1367-1375.
• Lewis RC, Bostick RM, Xie D, Deng Z, Wargovich MJ, Fina MF, et al. 2003. Polymorphism of the cyclin D1 gene. CCND1, and risk for incident sporadic colorectal adenomas. Cancer Res 63: 8549-8553.
• Li H, Ha TC, Tai BC, 2009. XRCC1 gene polymorphisms and breast cancer risk in different populations: a meta-analysis. Breast 18: 183-191.
• Lopez-CimaMF, Gonzalez- Arriaga P, Garcia-Castro L, Pascual T, Marron MG, Puente XS, Tardon A, 2007 Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of Northern Spain. BMC Cancer 7: 162.
• Lunn RM, Langlois RG, Hsieh LL, Thompson CL, Bell DA, 1999. XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 59: 2557-2561.
• Matullo G, Guarrera S, Carturan S, Peluso M, Malaveille C, Davico L, et al. 2001. DNA repair gene polymorphisms, bulky DNA adducts in white blood cells and bladder cancer in a case-control study. Int J Cancer 92: 562-567.
• Matullo G, Palli D, Peluso M, Guarrera S, Carturan S, Celentano E, et al. 2001. XRCC1, XRCC3, XPD gene polymorphisms, smoking and (32)P-DNA adducts in a sample of healthy subjects. Carcinogenesis 22: 1437-1445.
• Misra RR, Ratnasinghe D, Tangrea JA, Virtamo J, Andersen MR, Barrett M, et al. 2003. Polymorphisms in the DNA repair genes XPD, XRCC1, XRCC3, and APE/ref-1, and the risk of lung cancer among male smokers in Finland. Cancer Lett 191: 171-178.
• Moreno V, Gemignani F, Landi S, Gioia-Patricola L, Chabrier A, Blanco I, et al. 2006. Polymorphisms in genes of nucleotide and base excision repair: risk and prognosis of colorectal cancer. Clin Cancer Res 12: 2101-2108.
• Parikh SS, Mol CD, Tainer JA, 1997. Base excision repair enzyme family portrait: integrating the structure and chemistry of an entire DNA repair pathway. Structure 5: 1543-1550.
• Paz-Elizur T, Sevilya Z, Leitner-Dagan Y, Elinger D, Roisman LC, Livneh Z, 2008. DNA repair of oxidative DNA damage in human carcinogenesis: potential application for cancer risk assessment and prevention. Cancer Lett. 266: 60-72.
• Rzeszowska-Wolny J, Polańska J, Pietrowska M, Palyvoda O, Jaworska J, Butkiewicz D, Hancock R, 2005. Influence of polymorphisms in DNA repair genes XPD, XRCC1 and MGMT on DNA damage inducedby gamma radiation and its repair in lymphocytes in vitro. Radiat Res 164: 132-140.
• Rydzanicz M, Golusiński P, Mielcarek-Kuchta D, Golusiński W, Szyfter K, 2006. Cyclin D1 gene (CCND1) polymorphism and the risk of squamous cell carcinoma of the larynx. Eur Arch Otorhinolaryngol 263: 43-48.
• Sancar A, 1996. DNA excision repair. Annu Rev Biochem 65: 43-81.
• Saw a H, Ohshima TA, Ukita H, Murakami H, Chiba Y, Kamada H,etal. 1998. Alternatively spliced forms of cyclin D1 modulate entry into the cell cycle in an inverse manner. Oncogene 16: 1701-1712.
• Shen MR, Zdzienicka MZ, Mohrenweiser H, Thompson LH, Thelen MP, 1998. Mutations in hamster single-strand break repair gene XRCC1 causing defective DNA repair. Nucleic Acids Res 26: 1032-1037.
• Sliwiński T, Krupa R, Wiśniewska-Jarosińska M, Lech J, Morawiec Z, Chojnacki J, Błasiak J, 2008. No association between the Arg 194Trp and Arg399Gln polymorphisms of the XRCC1 gene and colorectal cancer risk and progression in a Polish population. Exp Oncol 30: 253-254.
• Sliwinski T, Krupa R, Wiśniewska-Jarosinska M, Pawłowska E, Lech J, Chojnacki J, Błasiak J, 2009. Common polymorphisms in the XPD and hOGGl genes are not associated with the risk of colorectal cancer in a Polish population. Tohoku J Exp Med 218: 185-191.
• Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, et al. 2001. Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 61: 1354-1357.
• Sreeja L, Syamala V, Syamala V, Hariharan S, Raveendran P, Vijayalekshmi R, et al. 2008. Prognostic importance of DNA repair gene polymorphisms of XRCC1 Arg399Gln and XPD Lys751 Gln in lung cancer patients from India. J Cane Res Clin Oncol 134: 645-652.
• Sturgis EM, Castillo EJ, Li L, Zheng R, Eicher SA, Clayman GL, et al. 1999. Polymorphisms of DNA repair gene XRCC1 in squamous cell carcinoma of the head and neck. Carcinogenesis. 20: 2125-2129.
• Sturgis EM, Zheng R, Li L, Castillo EJ, Eicher SA, Chen M, et al. 2000. XPD/ERCC2 polymorphisms and risk of head and neck cancer: a case-control analysis. Carcinogenesis 21: 2219-2223.
• Varon R, Vissinga CH, Platzer M, Cerosaletti KM, Chrzanowska KH, Saar K, ct al. 1998. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome. Cell 93: 467-476.
• Vogelstein B, Kinzler KW, 2004. Cancer genes and the pathways they control. Nat Med 10: 789-799.
• Wang Y, Spitz MR, Zhu Y, Dong Q, Shete S, Wu X, 2003. From genotype to phenotype: correlating XRCC1 polymorphisms with mutagen sensitivity. DNA Repair 2: 901-908.
• Welsh JB, Zarrinkar PP, Sapinoso LM, Kern SG, Behling CA, Monk BJ, et al. 2001. Analysis of gene expression profiles in normal and neoplastic ovarian tissue samples identifies candidate molecular markers of epithelial ovarian cancer. Proc Natl Acad Sci US A. 98: 1176-1181.
• Yun-Chul H, Kwan-Hee L, Woo-Chul K, Sun-Keun C, Ze-Hong W, Soo-Kyung S, Ho K, 2005. Polymorphisms of XRCC1 gene, alcohol consumption and colorectal cancer. Int J Cancer. 116: 428-432.
• Zhou W, Liu G, Miller DP, Thurston SW, Xu LL, Wain JC, et al. 2002. Gene-environment interaction for the ERCC2 polymorphisms and cumulative cigarette smoking exposure in lung cancer. Cancer Res 62: 1377-1381.
• Ziółkowska I, Mosor M, Wierzbicka M, Rydzanicz M, Pernak-Schwarz M, Nowak J, 2007. Increased risk of larynx cancer in heterozygous carriers of the I171V mutation of the NBS1 gene. Cancer Sci. 98: 1701-1705.