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Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma

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Abstract

Purpose

We examined the influence of XPC A2920C, XPF T30028C, TP53 Arg72Pro and GSTP1 Ile105Val polymorphisms in the risk of cutaneous melanoma (CM).

Methods

DNA from 146 CM patients and 146 controls was analysed by polymerase chain reaction (PCR)—restriction fragment length polymorphism (RFLP).

Results

The frequencies of XPC CC (15.1 vs. 6.9 %, P = 0.02), TP53 ArgArg (59.6 vs. 45.9 %, P = 0.02), XPC CC plus TP53 ArgArg (19.7 vs. 5.2 %, P = 0.01) and TP53 ArgArg plus GSTP1 IleIle (50.7 vs. 35.6 %, P = 0.03) genotypes were higher in patients than in controls. Carriers of the respective genotypes were under a 2.51 (95 % CI: 1.13–5.55), 1.76 (95 % CI: 1.09–2.83), 4.52 (95 % CI: 1.35–15.16), and 2.01 (95 % CI: 1.04–3.90)-fold increased risks for CM than others, respectively. An excess of TP53 ArgArg genotype was seen in patients with excessive sun exposure compared to patients with standard sun exposure (69.2 vs. 44.1 %, P = 0.02) and also compared to controls (69.2 vs. 45.9 %, P = 0.002). Individuals with TP53 ArgArg genotype and highly exposed to sunlight had 2.65 (95 % CI: 1.42–4.92)-fold increased risk for CM than others. XPC CC (27.8 vs. 10.4 %, P = 0.02) and the GSTP1 IleIle (58.3 vs. 36.8 %, P = 0.04) genotypes were more common in patients with advanced tumours than in patients with localized tumours and were also more common in these patients than in controls (27.8 vs. 6.9 %, P = 0.001; 58.3 vs. 37.0 %, P = 0.02, respectively). Individuals with the respective genotypes had 5.23 (95 % CI: 1.97–13.82)-fold and 2.38 (95 % CI: 1.13–5.01)-fold increased risks for advanced tumour than others, respectively.

Conclusion

Our data suggest that inherited abnormalities of XPC, XPF, TP53 and GSTP1 pathways of the DNA repair, apoptosis and metabolism of reactive oxygen species are important determinants of CM in individuals from south-eastern Brazil.

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References

  • Adler V, Yin Z, Fuchs SY, Benezra M, Rosario L, Tew KD, Pincus MR, Sardana M, Henderson CJ, Wolf CR, Davis RJ, Ronai Z (1999) Regulation of JNK signaling by GSTp. EMBO J 18(5):1321–1334. doi:10.1093/emboj/18.5.1321

    Article  PubMed  CAS  Google Scholar 

  • Altilia S, Santoro A, Malagoli D, Lanzarini C, Ballesteros Alvarez JA, Galazzo G, Porter DC, Crocco P, Rose G, Passarino G, Roninson IB, Franceschi C, Salvioli S (2012) TP53 codon 72 polymorphism affects accumulation of mtDNA damage in human cells. Aging (Albany NY) 4(1):28–39

    CAS  Google Scholar 

  • Bakos L, Masiero NC, Bakos RM, Burttet RM, Wagner MB, Benzano D (2009) European ancestry and cutaneous melanoma in Southern Brazil. J Eur Acad Dermatol Venereol 23(3):304–307. doi:10.1111/j.1468-3083.2008.03027.x

    Article  PubMed  CAS  Google Scholar 

  • Balch CM, Gershenwald JE, Soong SJ, Thompson JF, Atkins MB, Byrd DR, Buzaid AC, Cochran AJ, Coit DG, Ding S, Eggermont AM, Flaherty KT, Gimotty PA, Kirkwood JM, McMasters KM, Mihm MC Jr, Morton DL, Ross MI, Sober AJ, Sondak VK (2009) Final version of 2009 AJCC melanoma staging and classification. J Clin Oncol 27(36):6199–6206. doi:10.1200/JCO.2009.23.4799

    Article  PubMed  Google Scholar 

  • Blankenburg S, Konig IR, Moessner R, Laspe P, Thoms KM, Krueger U, Khan SG, Westphal G, Berking C, Volkenandt M, Reich K, Neumann C, Ziegler A, Kraemer KH, Emmert S (2005) Assessment of 3 xeroderma pigmentosum group C gene polymorphisms and risk of cutaneous melanoma: a case–control study. Carcinogenesis 26(6):1085–1090. doi:10.1093/carcin/bgi055

    Article  PubMed  CAS  Google Scholar 

  • Bu H, Rosdahl I, Holmdahl-Kallen K, Sun XF, Zhang H (2007) Significance of glutathione S-transferases M1, T1 and P1 polymorphisms in Swedish melanoma patients. Oncol Rep 17(4):859–864

    PubMed  CAS  Google Scholar 

  • Capasso M, Ayala F, Avvisati RA, Russo R, Gambale A, Mozzillo N, Ascierto PA, Iolascon A (2010) MDM2 SNP309 and p53 Arg72Pro in cutaneous melanoma: association between SNP309 GG genotype and tumor Breslow thickness. J Hum Genet 55(8):518–524. doi:10.1038/jhg.2010.62

    Article  PubMed  CAS  Google Scholar 

  • Dumont P, Leu JI, Della Pietra AC 3rd, George DL, Murphy M (2003) The codon 72 polymorphic variants of p53 have markedly different apoptotic potential. Nat Genet 33(3):357–365. doi:10.1038/ng1093

    Article  PubMed  CAS  Google Scholar 

  • Dusinska M, Staruchova M, Horska A, Smolkova B, Collins A, Bonassi S, Volkovova K (2012) Are glutathione S transferases involved in DNA damage signalling? Interactions with DNA damage and repair revealed from molecular epidemiology studies. Mutat Res 736(1–2):130–137. doi:10.1016/j.mrfmmm.2012.03.003

    PubMed  CAS  Google Scholar 

  • Figl A, Scherer D, Nagore E, Bermejo JL, Botella-Estrada R, Gast A, Thirumaran RK, Planelles D, Hemminki K, Schadendorf D, Kumar R (2010) Single-nucleotide polymorphisms in DNA-repair genes and cutaneous melanoma. Mutat Res 702(1):8–16. doi:10.1016/j.mrgentox.2010.06.011

    Article  PubMed  CAS  Google Scholar 

  • Ford JM (2005) Regulation of DNA damage recognition and nucleotide excision repair: another role for p53. Mutat Res 577(1–2):195–202. doi:10.1016/j.mrfmmm.2005.04.005

    PubMed  CAS  Google Scholar 

  • Friedberg EC (2001) How nucleotide excision repair protects against cancer. Nat Rev Cancer 1(1):22–33. doi:10.1038/35094000

    Article  PubMed  CAS  Google Scholar 

  • Gandini S, Autier P, Boniol M (2011) Reviews on sun exposure and artificial light and melanoma. Prog Biophys Mol Biol 107(3):362–366. doi:10.1016/j.pbiomolbio.2011.09.011

    Article  PubMed  Google Scholar 

  • Goncalves FT, Francisco G, de Souza SP, Luiz OC, Festa-Neto C, Sanches JA, Chammas R, Gattas GJ, Eluf-Neto J (2011) European ancestry and polymorphisms in DNA repair genes modify the risk of melanoma: a case-control study in a high UV index region in Brazil. J Dermatol Sci 64(1):59–66. doi:10.1016/j.jdermsci.2011.06.003

    Article  PubMed  CAS  Google Scholar 

  • Goode EL, Ulrich CM, Potter JD (2002) Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 11(12):1513–1530

    PubMed  CAS  Google Scholar 

  • Gu F, Qureshi AA, Kraft P, Guo Q, Hunter DJ, Han J (2009) Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk. Br J Dermatol 161(1):209–212. doi:10.1111/j.1365-2133.2009.09219.x

    Article  PubMed  CAS  Google Scholar 

  • Han J, Cox DG, Colditz GA, Hunter DJ (2006) The p53 codon 72 polymorphism, sunburns, and risk of skin cancer in US Caucasian women. Mol Carcin 45(9):694–700. doi:10.1002/mc.20190

    Article  CAS  Google Scholar 

  • Henderson CJ, McLaren AW, Moffat GJ, Bacon EJ, Wolf CR (1998) Pi-class glutathione S-transferase: regulation and function. Chem Biol Interact 111–112:69–82

    Article  PubMed  Google Scholar 

  • Hohaus S, Di Ruscio A, Di Febo A, Massini G, D’Alo F, Guidi F, Mansueto G, Voso MT, Leone G (2005) Glutathione S-transferase P1 genotype and prognosis in Hodgkin’s lymphoma. Clin Cancer Res 11(6):2175–2179. doi:10.1158/1078-0432.CCR-04-1250

    Article  PubMed  CAS  Google Scholar 

  • Honma HN, De Capitani EM, Perroud MW Jr, Barbeiro AS, Toro IF, Costa DB, Lima CS, Zambon L (2008) Influence of p53 codon 72 exon 4, GSTM1, GSTT1 and GSTP1*B polymorphisms in lung cancer risk in a Brazilian population. Lung Cancer 61(2):152–162. doi:10.1016/j.lungcan.2007.12.014

    Article  PubMed  Google Scholar 

  • Hu Z, Wang Y, Wang X, Liang G, Miao X, Xu Y, Tan W, Wei Q, Lin D, Shen H (2005) DNA repair gene XPC genotypes/haplotypes and risk of lung cancer in a Chinese population. Int J Cancer 115(3):478–483. doi:10.1002/ijc.20911

    Article  PubMed  CAS  Google Scholar 

  • Huang WY, Winn DM, Brown LM, Gridley G, Bravo-Otero E, Diehl SR, Fraumeni JF Jr, Hayes RB (2003) Alcohol concentration and risk of oral cancer in Puerto Rico. Am J Epidemiol 157(10):881–887

    Article  PubMed  Google Scholar 

  • Hulley SB, Cummings SR, Browner WS (1988) Designing Clinical Research, 1st edn. Lippincott, Williams & Wilkins, Philadelphia

    Google Scholar 

  • Ibarrola-Villava M, Pena-Chilet M, Fernandez LP, Aviles JA, Mayor M, Martin-Gonzalez M, Gomez-Fernandez C, Casado B, Lazaro P, Lluch A, Benitez J, Lozoya R, Boldo E, Pizarro A, Martinez-Cadenas C, Ribas G (2011) Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility. Eur J Cancer 47(17):2618–2625. doi:10.1016/j.ejca.2011.05.011

    Article  PubMed  CAS  Google Scholar 

  • Jiang DK, Yao L, Ren WH, Wang WZ, Peng B, Yu L (2011) TP53 Arg72Pro polymorphism and endometrial cancer risk: a meta-analysis. Med Oncol 28(4):1129–1135. doi:10.1007/s12032-010-9597-x

    Article  PubMed  CAS  Google Scholar 

  • Khan SG, Metter EJ, Tarone RE, Bohr VA, Grossman L, Hedayati M, Bale SJ, Emmert S, Kraemer KH (2000) A new xeroderma pigmentosum group C poly(AT) insertion/deletion polymorphism. Carcinogenesis 21(10):1821–1825

    Article  PubMed  CAS  Google Scholar 

  • Kraemer KH, Lee MM, Andrews AD, Lambert WC (1994) The role of sunlight and DNA repair in melanoma and nonmelanoma skin cancer. The xeroderma pigmentosum paradigm. Arch Dermatol 130(8):1018–1021

    Article  PubMed  CAS  Google Scholar 

  • Laborde E (2010) Glutathione transferases as mediators of signaling pathways involved in cell proliferation and cell death. Cell Death Differ 17(9):1373–1380. doi:10.1038/cdd.2010.80

    Article  PubMed  CAS  Google Scholar 

  • Lasithiotakis K, Kruger-Krasagakis S, Ioannidou D, Pediaditis I, Tosca A (2004) Epidemiological differences for cutaneous melanoma in a relatively dark-skinned Caucasian population with chronic sun exposure. Eur J Cancer 40(16):2502–2507. doi:10.1016/j.ejca.2004.06.032

    Article  PubMed  Google Scholar 

  • Li C, Hu Z, Liu Z, Wang LE, Strom SS, Gershenwald JE, Lee JE, Ross MI, Mansfield PF, Cormier JN, Prieto VG, Duvic M, Grimm EA, Wei Q (2006) Polymorphisms in the DNA repair genes XPC, XPD, and XPG and risk of cutaneous melanoma: a case-control analysis. Cancer Epidemiol Biomarkers Prev 15(12):2526–2532. doi:10.1158/1055-9965.EPI-06-0672

    Article  PubMed  CAS  Google Scholar 

  • Li C, Chen K, Liu Z, Wang LE, Gershenwald JE, Lee JE, Prieto VG, Duvic M, Grimm EA, Wei Q (2008) Polymorphisms of TP53 Arg72Pro, but not p73 G4C14 > A4TA4 and p21 Ser31Arg, contribute to risk of cutaneous melanoma. J Invest Dermatol 128(6):1585–1588. doi:10.1038/sj.jid.5701186

    Article  PubMed  CAS  Google Scholar 

  • MacKie RM, Hauschild A, Eggermont AM (2009) Epidemiology of invasive cutaneous melanoma. Ann Oncol 20(Suppl 6:vi):1–7. doi:10.1093/annonc/mdp252

    Google Scholar 

  • Marghoob AA, Koenig K, Bittencourt FV, Kopf AW, Bart RS (2000) Breslow thickness and clark level in melanoma: support for including level in pathology reports and in American Joint Committee on Cancer Staging. Cancer 88(3):589–595. doi:10.1002/(SICI)1097-0142(20000201)88:3<589:AID-CNCR15>3.0.CO;2-I

    Article  PubMed  CAS  Google Scholar 

  • Matlashewski GJ, Tuck S, Pim D, Lamb P, Schneider J, Crawford LV (1987) Primary structure polymorphism at amino acid residue 72 of human p53. Mol Cell Biol 7(2):961–963

    PubMed  CAS  Google Scholar 

  • Mendes GL, Koifman RJ, Koifman S (2010) Mortality frequency and trends attributed to melanoma in Brazil from 1980–2005. J Toxicol Environ Health A 73(13–14):850–857. doi:10.1080/15287391003744757

    Article  PubMed  CAS  Google Scholar 

  • Millikan RC, Hummer A, Begg C, Player J, de Cotret AR, Winkel S, Mohrenweiser H, Thomas N, Armstrong B, Kricker A, Marrett LD, Gruber SB, Culver HA, Zanetti R, Gallagher RP, Dwyer T, Rebbeck TR, Busam K, From L, Mujumdar U, Berwick M (2006) Polymorphisms in nucleotide excision repair genes and risk of multiple primary melanoma: the Genes Environment and Melanoma Study. Carcinogenesis 27(3):610–618. doi:10.1093/carcin/bgi252

    Article  PubMed  CAS  Google Scholar 

  • Mocellin S, Verdi D, Nitti D (2009) DNA repair gene polymorphisms and risk of cutaneous melanoma: a systematic review and meta-analysis. Carcinogenesis 30(10):1735–1743. doi:10.1093/carcin/bgp207

    Article  PubMed  CAS  Google Scholar 

  • Moral A, Palou J, Lafuente A, Molina R, Piulachs J, Castel T, Trias M (1997) Immunohistochemical study of alpha, mu and pi class glutathione S transferase expression in malignant melanoma. MMM Group. Multidisciplinary Malignant Melanoma Group. Br J Dermatol 136(3):345–350

    Article  PubMed  CAS  Google Scholar 

  • Mouret S, Forestier A, Douki T (2012) The specificity of UVA-induced DNA damage in human melanocytes. Photochem Photobiol Sci 11(1):155–162. doi:10.1039/c1pp05185g

    Article  PubMed  CAS  Google Scholar 

  • Pena SD, Di Pietro G, Fuchshuber-Moraes M, Genro JP, Hutz MH, Kehdy Fde S, Kohlrausch F, Magno LA, Montenegro RC, Moraes MO, de Moraes ME, de Moraes MR, Ojopi EB, Perini JA, Racciopi C, Ribeiro-Dos-Santos AK, Rios-Santos F, Romano-Silva MA, Sortica VA, Suarez-Kurtz G (2011) The genomic ancestry of individuals from different geographical regions of Brazil is more uniform than expected. PLoS ONE 6(2):e17063. doi:10.1371/journal.pone.0017063

    Article  PubMed  CAS  Google Scholar 

  • Pocock SJ (1983) Clinical trial: a practical approach. Wiley, Chichester

    Google Scholar 

  • Povey JE, Darakhshan F, Robertson K, Bisset Y, Mekky M, Rees J, Doherty V, Kavanagh G, Anderson N, Campbell H, MacKie RM, Melton DW (2007) DNA repair gene polymorphisms and genetic predisposition to cutaneous melanoma. Carcinogenesis 28(5):1087–1093. doi:10.1093/carcin/bgl257

    Article  PubMed  CAS  Google Scholar 

  • Rigel DS, Friedman RJ, Levenstein MJ, Greenwald DI (1983) Relationship of fluorescent lights to malignant melanoma: another view. J Dermatol Surg Oncol 9(10):836–838

    PubMed  CAS  Google Scholar 

  • Sarasin A, Kauffmann A (2008) Overexpression of DNA repair genes is associated with metastasis: a new hypothesis. Mutat Res 659(1–2):49–55. doi:10.1016/j.mrrev.2007.12.002

    PubMed  CAS  Google Scholar 

  • Shen H, Liu Z, Strom SS, Spitz MR, Lee JE, Gershenwald JE, Ross MI, Mansfield PF, Duvic M, Ananthaswamy HN, Wei Q (2003) p53 codon 72 Arg homozygotes are associated with an increased risk of cutaneous melanoma. J Invest Dermatol 121(6):1510–1514. doi:10.1046/j.1523-1747.2003.12648.x

    Article  PubMed  CAS  Google Scholar 

  • Siddique M, Sabapathy K (2006) Trp53-dependent DNA-repair is affected by the codon 72 polymorphism. Oncogene 25(25):3489–3500. doi:10.1038/sj.onc.1209405

    Article  PubMed  CAS  Google Scholar 

  • Stefanaki I, Stratigos AJ, Dimisianos G, Nikolaou V, Papadopoulos O, Polydorou D, Gogas H, Tsoutsos D, Panagiotou P, Kanavakis E, Antoniou C, Katsambas AD (2007) p53 codon 72 Pro homozygosity increases the risk of cutaneous melanoma in individuals with dark skin complexion and among noncarriers of melanocortin 1 receptor red hair variants. Br J Dermatol 156(2):357–362. doi:10.1111/j.1365-2133.2006.07645.x

    Article  PubMed  CAS  Google Scholar 

  • Svobodova AR, Galandakova A, Sianska J, Dolezal D, Ulrichova J, Vostalova J (2011) Acute exposure to solar simulated ultraviolet radiation affects oxidative stress-related biomarkers in skin, liver and blood of hairless mice. Biol Pharm Bull 34(4):471–479. doi:JST.JSTAGE/bpb/34.471

    Article  PubMed  Google Scholar 

  • Whibley C, Pharoah PD, Hollstein M (2009) p53 polymorphisms: cancer implications. Nat Rev Cancer 9(2):95–107. doi:10.1038/nrc2584

    Article  PubMed  CAS  Google Scholar 

  • Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarowska F, Welsh KI (2000) A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 60(20):5612–5616

    PubMed  CAS  Google Scholar 

  • Woodhead JL, Fallon R, Fuguered H (1986) Alternative methodology of gene diagnosis. In: Davies KE (ed) Human genetic diseases: a practical approach. IRL Press, Oxford, pp 51–64

    Google Scholar 

  • Yeh JI, Levine AS, Du S, Chinte U, Ghodke H, Wang H, Shi H, Hsieh CL, Conway JF, Van Houten B, Rapic-Otrin V (2012) Damaged DNA induced UV-damaged DNA-binding protein (UV-DDB) dimerization and its roles in chromatinized DNA repair. Proc Natl Acad Sci USA 109(41):E2737–E2746. doi:10.1073/pnas.1110067109

    Article  PubMed  CAS  Google Scholar 

  • Zhu Y, Yang H, Chen Q, Lin J, Grossman HB, Dinney CP, Wu X, Gu J (2008) Modulation of DNA damage/DNA repair capacity by XPC polymorphisms. DNA Repair (Amst) 7(2):141–148. doi:10.1016/j.dnarep.2007.08.006

    Article  CAS  Google Scholar 

  • Zimniak P, Nanduri B, Pikula S, Bandorowicz-Pikula J, Singhal SS, Srivastava SK, Awasthi S, Awasthi YC (1994) Naturally occurring human glutathione S-transferase GSTP1-1 isoforms with isoleucine and valine in position 104 differ in enzymic properties. Eur J Biochem 224(3):893–899

    Article  PubMed  CAS  Google Scholar 

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Acknowledgments

This work was supported by Fundação à Pesquisa do Estado de São Paulo (FAPESP) and Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq).

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The authors declare no competing interests.

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Authors and Affiliations

  1. Clinical Oncology Service, Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Rua Alexander Fleming, 181, Cidade Universitária “Zeferino Vaz”, Distrito de Barão Geraldo, Campinas, SP, CEP 13083–970, Brazil

    Cristiane Oliveira, José Augusto Rinck-Junior, Gustavo Jacob Lourenço & Carmen Silvia Passos Lima

  2. Dermatology Service, Department of Internal Medicine, Faculty of Medical Sciences, State University of Campinas, Campinas, SP, Brazil

    Aparecida Machado Moraes

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  1. Cristiane Oliveira
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Correspondence to Carmen Silvia Passos Lima.

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Oliveira, C., Rinck-Junior, J.A., Lourenço, G.J. et al. Assessment of the XPC (A2920C), XPF (T30028C), TP53 (Arg72Pro) and GSTP1 (Ile105Val) polymorphisms in the risk of cutaneous melanoma. J Cancer Res Clin Oncol 139, 1199–1206 (2013). https://doi.org/10.1007/s00432-013-1430-4

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