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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

Research Project

Project/Area Number 23510071
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Risk sciences of radiation/Chemicals
Research InstitutionRadiation 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
Project Status Completed (Fiscal Year 2013)
Budget Amount *help
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2013: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2012: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2011: ¥2,080,000 (Direct Cost: ¥1,600,000、Indirect Cost: ¥480,000)
KeywordsXPA(色素性乾皮症A群) / 保因者 / 創始者変異 / 皮膚がん / XPA(色素性乾皮症A群) / XPA
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.

Report

(4 results)
  • 2013 Annual Research Report   Final Research Report ( PDF )
  • 2012 Research-status Report
  • 2011 Research-status Report
  • Research Products

    (3 results)

All Other

All Remarks (3 results)

  • [Remarks] 細胞遺伝学調査 研究計画書 6-00

    • URL

      http://www.rerf.jp/programs/rp/cytheads.html

    • Related Report
      2013 Annual Research Report
  • [Remarks] 細胞遺伝学調査 研究計画書 6-09

    • URL

      http://www.rerf.jp/programs/rp/cytheads.html

    • Related Report
      2012 Research-status Report
  • [Remarks]

    • URL

      http://www.rerf.jp/programs/rp/cytheads.html

    • Related Report
      2011 Research-status Report

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Published: 2011-08-05   Modified: 2019-07-29  

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