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Vol. 73, No. 6, 2006
Issue release date: March 2007
Section title: Original Paper
Pathobiology 2006;73:295–303
(DOI:10.1159/000099124)

Association between DNA Repair Gene Polymorphisms and p53 Alterations in Japanese Patients with Muscle-Invasive Bladder Cancer

Shigeru Sakano Hiroaki Matsumoto Yoshiaki Yamamoto Yoshihisa Kawai Satoshi Eguchi Chietaka Ohmi Hideyasu Matsuyama Katsusuke Naito

Sakano S. · Matsumoto H. · Yamamoto Y. · Kawai Y. · Eguchi S. · Ohmi C. · Matsuyama H. · Naito K.
Department of Urology, Yamaguchi University School of Medicine, Ube, Japan

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Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 8/21/2006
Accepted: 11/10/2006
Published online: 3/23/2007

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 3

ISSN: 1015-2008 (Print)
eISSN: 1423-0291 (Online)

For additional information: http://www.karger.com/PAT

Abstract

Objective: DNA repair enzymes play a vital role in protecting the genome from carcinogens, several of which can cause mutations in the TP53 gene in bladder cancer. Some single nucleotide polymorphisms (SNPs) in DNA repair genes reportedly modulate the repair capacity. This study aimed to clarify the effect of these functional SNPs on the alteration of p53 in muscle-invasive bladder cancer. Methods: We investigated the association between SNPs in xeroderma pigmentosum complementation groups C (XPC), D and G and X-ray repair cross-complementing group 1 and 3 genes, and p53 expression and allelic imbalance at the TP53 locus in Japanese patients with muscle-invasive bladder cancer. p53 expression and the allelic imbalance were evaluated using immunohistochemistry and a microsatellite marker, respectively. Results: Positive p53 expression was significantly less frequent in patients with the CC genotype of the XPC gene than in those with the AA or AC genotype (p = 0.0005). C alleles of the XPC gene were also less frequent in patients with positive p53 expression (p = 0.01). Conclusion: Our results suggested that the XPC polymorphism might affect p53 alteration and the molecular pathway defined by the p53 alteration in the development of muscle-invasive bladder cancer.


Article / Publication Details

First-Page Preview
Abstract of Original Paper

Received: 8/21/2006
Accepted: 11/10/2006
Published online: 3/23/2007

Number of Print Pages: 9
Number of Figures: 3
Number of Tables: 3

ISSN: 1015-2008 (Print)
eISSN: 1423-0291 (Online)

For additional information: http://www.karger.com/PAT


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Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
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References

  1. Hoeijmakers JH: Genome maintenance mechanisms for preventing cancer. Nature 2001;411:366–374.
  2. Griffin CS, Simpson PJ, Wilson CR, Thacker J: Mammalian recombination-repair genes XRCC2 and XRCC3 promote correct chromosome segregation. Nat Cell Biol 2000;2:757–761.
  3. Shiomi N, Hayashi E, Sasanuma S, Mita K, Shiomi T: Disruption of Xpg increases spontaneous mutation frequency, particularly A:T to C:G transversion. Mutat Res 2001;487:127–135.
  4. Thompson LH, West MG: XRCC1 keeps DNA from getting stranded. Mutat Res 2000;459:1–18.
  5. Goode EL, Ulrich CM, Potter JD: Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 2002;11:1513–1530.
  6. Lunn RM, Langlois RG, Hsieh LL, Thompson CL, Bell DA: XRCC1 polymorphisms: effects on aflatoxin B1-DNA adducts and glycophorin A variant frequency. Cancer Res 1999;59:2557–2561.
  7. Spitz MR, Wu X, Wang Y, Wang LE, Shete S, Amos CI, Guo Z, Lei L, Mohrenweiser H, Wei Q: Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res 2001;61:1354–1357.
  8. Matullo G, Peluso M, Polidoro S, Guarrera S, Munnia A, Krogh V, Masala G, Berrino F, Panico S, Tumino R, Vineis P, Palli D: Combination of DNA repair gene single nucleotide polymorphisms and increased levels of DNA adducts in a population-based study. Cancer Epidemiol Biomarkers Prev 2003;12:674–677.
  9. Vodicka P, Kumar R, Stetina R, Sanyal S, Soucek P, Haufroid V, Dusinska M, Kuricova M, Zamecnikova M, Musak L, Buchancova J, Norppa H, Hirvonen A, Vodickova L, Naccarati A, Matousu Z, Hemminki K: Genetic polymorphisms in DNA repair genes and possible links with DNA repair rates, chromosomal aberrations and single-strand breaks in DNA. Carcinogenesis 2004;25:757–763.
  10. Sanyal S, Festa F, Sakano S, Zhang Z, Steineck G, Norming U, Wijkstrom H, Larsson P, Kumar R, Hemminki K: Polymorphisms in DNA repair and metabolic genes in bladder cancer. Carcinogenesis 2004;25:729–734.
  11. Cohen SM, Shirai T, Steineck G: Epidemiology and etiology of premalignant and malignant urothelial changes. Scand J Urol Nephrol Suppl 2000:105–115.
  12. Hussain SP, Harris CC: p53 mutation spectrum and load: the generation of hypotheses linking the exposure of endogenous or exogenous carcinogens to human cancer. Mutat Res 1999;428:23–32.
  13. Kelsey KT, Hirao T, Hirao S, Devi-Ashok T, Nelson HH, Andrew A, Colt J, Baris D, Morris JS, Schned A, Karagas M: TP53 alterations and patterns of carcinogen exposure in a US population-based study of bladder cancer. Int J Cancer 2005;117:370–375.
  14. Wallerand H, Bakkar AA, de Medina SG, Pairon JC, Yang YC, Vordos D, Bittard H, Fauconnet S, Kouyoumdjian JC, Jaurand MC, Zhang ZF, Radvanyi F, Thiery JP, Chopin DK: Mutations in TP53, but not FGFR3, in urothelial cell carcinoma of the bladder are influenced by smoking: contribution of exogenous versus endogenous carcinogens. Carcinogenesis 2005;26:177–184.
  15. Knowles MA: The genetics of transitional cell carcinoma: progress and potential clinical application. BJU Int 1999;84:412–427.
  16. Brandau S, Bohle A: Bladder cancer. I. Molecular and genetic basis of carcinogenesis. Eur Urol 2001;39:491–497.
  17. Bakkar AA, Wallerand H, Radvanyi F, Lahaye JB, Pissard S, Lecerf L, Kouyoumdjian JC, Abbou CC, Pairon JC, Jaurand MC, Thiery JP, Chopin DK, de Medina SG: FGFR3 and TP53 gene mutations define two distinct pathways in urothelial cell carcinoma of the bladder. Cancer Res 2003;63:8108–8112.
  18. Sakano S, Kumar R, Larsson P, Onelov E, Adolfsson J, Steineck G, Hemminki K: A single-nucleotide polymorphism in the XPG gene, and tumour stage, grade, and clinical course in patients with nonmuscle-invasive neoplasms of the urinary bladder. BJU Int 2006;97:847–851.
  19. Sakano S, Berggren P, Kumar R, Steineck G, Adolfsson J, Onelov E, Hemminki K, Larsson P: Clinical course of bladder neoplasms and single nucleotide polymorphisms in the CDKN2A gene. Int J Cancer 2003;104:98–103.
  20. Matsumoto H, Wada T, Fukunaga K, Yoshihiro S, Matsuyama H, Naito K: Bax to Bcl-2 ratio and Ki-67 index are useful predictors of neoadjuvant chemoradiation therapy in bladder cancer. Jpn J Clin Oncol 2004;34:124–130.
  21. Wu TT, Chen JH, Lee YH, Huang JK: The role of bcl-2, p53, and ki-67 index in predicting tumor recurrence for low grade superficial transitional cell bladder carcinoma. J Urol 2000;163:758–760.
  22. Smith ND, Rubenstein JN, Eggener SE, Kozlowski JM: The p53 tumor suppressor gene and nuclear protein: basic science review and relevance in the management of bladder cancer. J Urol 2003;169:1219–1228.
  23. Matsumoto H, Matsuyama H, Fukunaga K, Yoshihiro S, Wada T, Naito K: Allelic imbalance at 1p36 may predict prognosis of chemoradiation therapy for bladder preservation in patients with invasive bladder cancer. Br J Cancer 2004;91:1025–1031.
  24. Casse C, Hu YC, Ahrendt SA: The XRCC1 codon 399 Gln allele is associated with adenine to guanine p53 mutations in non-small cell lung cancer. Mutat Res 2003;528:19–27.
  25. Gao WM, Romkes M, Day RD, Siegfried JM, Luketich JD, Mady HH, Melhem MF, Keohavong P: Association of the DNA repair gene XPD Asp312Asn polymorphism with p53 gene mutations in tobacco-related non-small cell lung cancer. Carcinogenesis 2003;24:1671–1676.
  26. Hsieh LL, Chien HT, Chen IH, Liao CT, Wang HM, Jung SM, Wang PF, Chang JT, Chen MC, Cheng AJ: The XRCC1 399Gln polymorphism and the frequency of p53 mutations in Taiwanese oral squamous cell carcinomas. Cancer Epidemiol Biomarkers Prev 2003;12:439–443.
  27. Ryk C, Kumar R, Sanyal S, Verdier PJ, Hemminki K, Larsson P, Steineck G, Hou SM: Influence of polymorphism in DNA repair and defence genes on p53 mutations in bladder tumours. Cancer Lett 2006;241:142–149.
  28. Stern MC, Conway K, Li Y, Mistry K, Taylor JA: DNA repair gene polymorphisms and probability of p53 mutation in bladder cancer. Mol Carcinog 2006;45:715–719.
  29. Larsson P, Wijkstrom H, Thorstenson A, Adolfsson J, Norming U, Wiklund P, Onelov E, Steineck G: A population-based study of 538 patients with newly detected urinary bladder neoplasms followed during 5 years. Scand J Urol Nephrol 2003;37:195–201.
  30. Schroeder JC, Conway K, Li Y, Mistry K, Bell DA, Taylor JA: p53 mutations in bladder cancer: evidence for exogenous versus endogenous risk factors. Cancer Res 2003;63:7530–7538.
  31. Fujimoto K, Yamada Y, Okajima E, Kakizoe T, Sasaki H, Sugimura T, Terada M: Frequent association of p53 gene mutation in invasive bladder cancer. Cancer Res 1992;52:1393–1398.
  32. Esrig D, Spruck CH 3rd, Nichols PW, Chaiwun B, Steven K, Groshen S, Chen SC, Skinner DG, Jones PA, Cote RJ: p53 nuclear protein accumulation correlates with mutations in the p53 gene, tumor grade, and stage in bladder cancer. Am J Pathol 1993;143:1389–1397.
  33. Sakiyama T, Kohno T, Mimaki S, Ohta T, Yanagitani N, Sobue T, Kunitoh H, Saito R, Shimizu K, Hirama C, Kimura J, Maeno G, Hirose H, Eguchi T, Saito D, Ohki M, Yokota J: Association of amino acid substitution polymorphisms in DNA repair genes TP53, POLI, REV1 and LIG4 with lung cancer risk. Int J Cancer 2005;114:730–737.
  34. Sugasawa K, Shimizu Y, Iwai S, Hanaoka F: A molecular mechanism for DNA damage recognition by the xeroderma pigmentosum group C protein complex. DNA Repair (Amst) 2002;1:95–107.
  35. Adimoolam S, Ford JM: p53 and DNA damage-inducible expression of the xeroderma pigmentosum group C gene. Proc Natl Acad Sci USA 2002;99:12985–12990.
  36. Cordon-Cardo C, Dalbagni G, Saez GT, Oliva MR, Zhang ZF, Rosai J, Reuter VE, Pellicer A: p53 mutations in human bladder cancer: genotypic versus phenotypic patterns. Int J Cancer 1994;56:347–353.
  37. Borresen AL, Hovig E, Smith-Sorensen B, Malkin D, Lystad S, Andersen TI, Nesland JM, Isselbacher KJ, Friend SH: Constant denaturant gel electrophoresis as a rapid screening technique for p53 mutations. Proc Natl Acad Sci USA 1991;88:8405–8409.
  38. Semczuk A, Marzec B, Skomra D, Roessner A, Cybulski M, Rechberger T, Schneider-Stock R: Allelic loss at TP53 is not related to p53 protein overexpression in primary human endometrial carcinomas. Oncology 2005;69:317–325.
  39. Blagosklonny MV: p53 from complexity to simplicity: mutant p53 stabilization, gain-of-function, and dominant-negative effect. Faseb J 2000;14:1901–1907.
  40. Guimaraes DP, Hainaut P: TP53: a key gene in human cancer. Biochimie 2002;84:83–93.