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

Kang, Sang Yoon; Lee, Goang Gil; Shim, Jeong Yun; Chung, Yoon Gyu; Kim, Nam Keun; Min, Wan Kee

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Original Article

Journal of the Korean Society of Plastic and Reconstructive Surgeons 2006;33(4):433-439.
Published online July 1, 2006.

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

Sang Yoon Kang, Goang Gil Lee, Jeong Yun Shim, Yoon Gyu Chung, Nam Keun Kim, Wan Kee Min

¹Departments of Plastic and Reconstructive Surgery, Bundang CHA General Hospital, College of Medicine, Pochon CHA University Gyeonggi, Korea. sykang@cha.ac.kr
²Departments of Pathology, Bundang CHA General Hospital, College of Medicine, Pochon CHA University Gyeonggi, Korea.
³Departments of Institute of Clinical Rresearch, Bundang CHA General Hospital, College of Medicine, Pochon CHA University Gyeonggi, Korea.
⁴Departments of Plastic, Wonju College of Medicine, Yonsei University, Korea.
⁵Departments of Pathology, Wonju College of Medicine, Yonsei University, Korea.
⁶Clinic of Yonsei Style, Korea.

Abstract

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.
CONCLUSION
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.

Keywords: Repair gene; Skin; Squamous cell carcinoma; Basal cell carcinoma; XRCC1

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