Archives of Plastic Surgery

  • 제33권4호
  • /
  • Pages.433-439
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  • 2006
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  • 2234-6163(pISSN)
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  • 2234-6171(eISSN)
대한성형외과학회 (Korean Society of Plastic and Reconstructive Surgeons)
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한국인의 피부 기저세포암종과 편평세포암종의 XRCC1 유전자 다형

Polymorphism in the DNA Repair Gene XRCC1 Associated with Squamous Cell Carcinoma and Basal Cell Carcinoma of the Skin in Koreans

  • 강상윤 (포천중문의과대학 분당차병원 성형외과학교실) ;
  • 이광길 (연세대학교 원주의과대학 병리학교실) ;
  • 심정연 (포천중문의과대학 분당차병원 병리학교실) ;
  • 정윤규 (연세대학교 원주의과대학 성형외과학교실) ;
  • 김남근 (포천중문의과대학 분당차병원 임상의학연구소) ;
  • 민완기 (더 스타일 성형외과)
  • Kang, Sang Yoon (Department of Plastic and Reconstructive Surgery, Bundang CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Lee, Goang Gil (Department of Pathology, Wonju College of Medicine, Yonsei University) ;
  • Shim, Jeong Yun (Department of Pathology, Bundang CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Chung, Yoon Gyu (Department of Plastic and Reconstructive Surgery, Wonju College of Medicine, Yonsei University) ;
  • Kim, Nam Keun (Institute of Clinical Research, Bundang CHA General Hospital, College of Medicine, Pochon CHA University) ;
  • Min, Wan Kee (Clinic of Yonsei Style)
  • 투고 : 2006.02.24
  • 발행 : 2006.07.10
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초록

Purpose: DNA in most cell is regularly damaged by endogenous and exogenous mutagens. Unrepaired damage resulted in apoptosis or may lead to unregulated cell growth and cancer. Inheritance of genetic variants at one or more loci results in an reduced DNA repair capacity. These polymorphisms are highly prevalent in the population, and therefore the attributable risks for cancer could be high. Several studies have documented that polymorphisms of XRCC1, XPD and XRCC3 are associated with skin cancer, especially, XRCC1 among of them has been reported frequently. So, this study involves the relationship between mutation of XRCC1 of squamous cell and basal cell cancer of the skin and risk of cancer development in Korean population. Methods: In case control study, study population (n=100, each cancer) is patients who were pathologically diagnosed as skin cancer(squamous cell carcinoma and basal cell carcinoma) in Yonsei Wonju Christian Hospital and Bundang CHA General Hospital between 1998 and 2004. The samples of DNA from whom no history of premalignant skin lesion and other malignant diseases were reported belonged to the control group(n=210). Blood and tissue samples were analyzed for presence of XRCC1 Arg399Glu, Arg280His, Arg194Trp using PCR/ RFLP method. Results: For Korean, there was a significant correlation between XRCC1 Arg399Gln gene mutation and risk of basal cell carcinoma development(Arg 399Gln(GA), p=0.012, OR=2.016, 95% CI; 1.230-3.305) /Arg399Gln (AA), p=0.011, OR=1.864, 95% CI; 1.149-3.026)). And, there was also significant correlation between XRCC1 Arg194Trp and risk of skin squamous cell carcinoma development (Arg194Trp (CT+TT), p=0.041, OR=0.537, 95% CI; 0.301-0.960)). In contrast, there was no significant correlation between XRCC1 Arg280His and risk of either basal cell carcinoma or squamous cell carcinoma development. Conclusions: Our result present that XRCC1 Arg399 Gln in basal cell carcinoma and XRCC1 Arg194Trp in squamous cell carcinoma have possibility of cancer risk and biomarker in Korean population. But XRCC1 Arg280 His known having cancer risk on other studies is not associated with cancer risk to squamous cell carcinoma and basal cell carcinoma in Korean population.

키워드

참고문헌

  1. Friedberg EC: How nucleotide excision repair protects against cancer. Nat Rev Cancer 1: 22, 2001 https://doi.org/10.1038/35094000
  2. Khanna KK, Jackson SP: DNA double-strand breaks: signaling, repair and the cancer connection. Nat Genet 27: 247, 2001 https://doi.org/10.1038/85798
  3. Aquilina G, Bignami M: Mismatch repair in correction of replication errors and processing of DNA damage. J Cell Physiol 187: 145, 2001 https://doi.org/10.1002/jcp.1067
  4. Goode EL, Ulrich CM, Potter JD: Polymorphisms in DNA repair genes and associations with cancer risk. Cancer Epidemiol Biomarkers Prev 11: 1513, 2002
  5. Shen MR, Jones IM, Mohrenweiser H: Nonconservative amino acid substitution variants exist at polymorphic frequency in DNA repair genes in healthy humans. Cancer Res 58: 604, 1998
  6. Thompson LH, West MG: XRCC1 keeps DNA from getting stranded. Mutat Res 459: 1, 2000 https://doi.org/10.1016/S0921-8777(99)00058-0
  7. Kim KJ, Chakrabarty I, Li GZ, Grosch 5, Kaina B, Runger TM: Modulation of base excision repair alters cellular sensitivity to UVAl but not to UVB1. Photochem Photobiol 75: 507, 2002 https://doi.org/10.1562/0031-8655(2002)075<0507:MOBERA>2.0.CO;2
  8. Winsey SL, Haldar NA, Marsh HP, Bunce M, Marshall SE, Harris AL, Wojnarow-ska F, Welsh Kl: A variant within the DNA repair gene XRCC3 is associated with the development of melanoma skin cancer. Cancer Res 60: 5612, 2000
  9. Nelson HH, Kelsey KT, Mott LA, Karagas MR: The XRCC1 Arg399Gln polymorphism, sunburn, and nonmelanoma skin cancer: evidence of gene-environment interaction. Cancer Res 62: 152, 2002
  10. Kubota Y, Nash RA, Klungland A, Schar P, Barnes DE, Lindahl T: Reconstitution of DNA base excision-repair with purified human proteins: interaction between DNA polymerase $\beta$ and the XRCC1 protein. EMBO J 15: 6662, 1996
  11. Zhang X, Morera S, Bates PA, Whitehead PC, Coffer AI, Hainbucher K, Nash RA, Sternberg MJ, Lindahl T, Freemont PS: Structure of an XRCC1 BRCT domain: a new protein-protein interaction module. EMBO J 17: 6404, 1998 https://doi.org/10.1093/emboj/17.21.6404
  12. Vidal AE, Boiteux S, Hickson ID, Radicella JP: XRCC1 coordinates the initial and late stages of DNA abasic site repair through protein-protein interactions. EMBO J 20: 6530, 2001 https://doi.org/10.1093/emboj/20.22.6530
  13. 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 59: 2557, 1999
  14. Han J, Hankinson SE, Colditz GA, Hunter DJ: Genetic variation in XRCC1, sun exposure, and risk of skin cancer. Br J Cancer 91: 1604, 2004 https://doi.org/10.1038/sj.bjc.6602174
  15. Tae K, Lee HS, Park BJ, Park ON, Kim KR, Cho HY, Kim LH, Park BL, Shin HD: Association of DNA repair gene XRCC1 polymorphisms with head and neck cancer in Korean population. Int J Cancer 111: 805, 2004 https://doi.org/10.1002/ijc.20338