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CANCER INCIDENCE IN GENERAL POPULATION WITH HETEROZYGOUS MUTATIONS AT THE GENE LOCUS RESPONSIBLE FOR WERNER SYNDROME.

Research Project

Project/Area Number 09670212
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Human pathology
Research InstitutionJAPANESE FOUNDATION FOR CANCER RESEARCH

Principal Investigator

ISHIKAWA Yuichi  THE CANCER INSTITUTE, DEPT.OF PATHOL.ASSOCIATE MEMBER, 癌研究所・病理部, 主任研究員 (80222975)

Co-Investigator(Kenkyū-buntansha) 鎌田 信悦  財団法人癌研究会, 癌研究所, 研究員
川口 智義  財団法人癌研究会, 癌研究所, 研究員
西田 一典  財団法人癌研究会, 埼玉県立がんセンター研究所病理部, 研究員 (60280624)
Project Period (FY) 1997 – 1998
Project Status Completed (Fiscal Year 1998)
Budget Amount *help
¥3,500,000 (Direct Cost: ¥3,500,000)
Fiscal Year 1998: ¥1,100,000 (Direct Cost: ¥1,100,000)
Fiscal Year 1997: ¥2,400,000 (Direct Cost: ¥2,400,000)
KeywordsAGING / CANCER / WERNER SYNDROME / THYROID CANCERS / BONE AND SOFT TISSUE TUMORS / GENETIC DISEASES / 甲状腺癌
Research Abstract

To investigate the role of Werner syndrome responsible gene (WRN) in bone and soft tissue tumors and thyroid cancers arising in general population, we examined the frequency of heterozygous mutations (germline mutations) at the gene locus using non-tumorous tissues taken from 55 bone and soft tissue tumor patients and 68 thyroid cancer patients.This is interesting because there are some reports which insist that in people who have heterozygous mutations in the ATM gene locus, breast cancer mortality is significantly increased.Materials used in this study were mostly peripheral blood and partly archival paraffin embedded tissues.Analytical methods were the mutant allele specific amplification.
Among them, the mutation type 4 (Mut 4) was found one in bone and soft tissue tumors and one in thyroid cancers, the frequency of which was 1/62.The former was 28-year-old male with neurofibroma on his upper arm, and the latter was 45-year-old female with papillary carcinoma, follicular variant.Since the Mut 4 explains about 50 % of all Werner syndrome-related mutations, the overall mutation rate is estimated to be 1/31.This rate is extremely high as compared with an estimate (1/200 to 1/500) derived from the incidence of Werner syndrome, an autosomal recessive hereditary disease, 1/500,000 to 1/1,000,000.
Consequently, the WRN gene is suggested to play an important part in the genesis of bone and soft tissue tumors and thyroid cancers among general population.

Report

(3 results)
  • 1998 Annual Research Report   Final Research Report Summary
  • 1997 Annual Research Report
  • Research Products

    (8 results)

All Other

All Publications (8 results)

  • [Publications] Yuichi Ishikawa et al.: "Unusual features of thyroid carcinomas in Japanese with Werner syndrome and possible genotype-phenotype relationship." Cancer. 85(6) 印刷中. (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] 石川雄一ら.: "癌多発症候群としてのWerner早老症 ヘリカーゼとがんとの関わり." 化学と生物. 36(No.4). 210-212 (1998)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yuichi Ishikawa et al.: "Unusual features of thyroid carcinomas in Japanese with Werner syndrome and possible genotype-phenotype relationships." Cancer. (in press).210-212

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yuichi Ishikawa et al.: "Werner progeria as a cancer-prone syndrome." Chemistry and Biology. 36(4). (1998)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1998 Final Research Report Summary
  • [Publications] Yuichi Ishikawa et al.: "Unusual features of thyroid carcinomas in Japanese with Werner syndrome and possible genotype-phenotype relationships." Cancer. 85(6). 印刷中 (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] 石川雄一ら.: "癌多発症候群としてのWerner早老症 ヘリカーゼとがんとの関わり." 化学と生物. 36(No.4). 210-212 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Y.Ishikawa et al.: "Unusual features of thyroid carcinomas in Japanese with Werner syndome" Proc.89th Annual Meeting of Am.Assoc.Cancer Res.39. 473 (1998)

    • Related Report
      1997 Annual Research Report
  • [Publications] 石川雄一: "癌多発症候群としてのWerner早老症 ヘリカーゼとがんとの関わり" 化学と生物. 4月号. 212-212 (1998)

    • Related Report
      1997 Annual Research Report

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Published: 1997-04-01   Modified: 2016-04-21  

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