Evaluation of the skin cancer risk among heterozygotes bearing a founder mutation allele unique to a Japanese population at xeroderma pigmentosum group A (XPA) gene

2013 Fiscal Year Final Research Report

• Project/Area Number: 23510071
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Risk sciences of radiation/Chemicals
• Research Institution: Radiation Effects Research Foundation
• Principal Investigator: HIRAI Yuko 公益財団法人放射線影響研究所, 遺伝学部, 研究員 (90136052)
• Co-Investigator(Kenkyū-buntansha): KODAMA Yoshiaki 公益財団法人放射線影響研究所, 遺伝学部, 部長 (60359453) ; NAKAMURA Nori 公益財団法人放射線影響研究所, 遺伝学部, 顧問 (00010116)
• Project Period (FY): 2011 – 2013
• Keywords: XPA(色素性乾皮症A群) / 保因者 / 創始者変異 / 皮膚がん

Research Abstract

The aim of this study is to evaluate the cancer risk of heterozygotes by comparing the frequency of heterozygotes bearing a founder mutation in the XPA gene in nonmelanoma skin cancer patients to control population, by taking advantage of the fact that a founder mutation at the XPA gene exists at a relatively high frequency among the Japanese population and can be found easily using the PCR-RFLP method.
We found 5 heterozygotes among 682 individuals in a control population and 13 heterozygotes among 915 nonmelanoma skin cancers. There was no statistically-significant difference between the frequencies of both groups. Although the frequency obtained from our previous study implies that there are about 1 million heterozygotes of the XPA founder mutation in the Japanese population, this study revealed that the frequency of heterozygotes of XPA founder mutation was not higher among nonmelanoma skin cancers than that in the control population.