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Genetic diagnogis of breast cancer

Research Project

Project/Area Number10671573
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Obstetrics and gynecology
Research InstitutionNippon Medical School

Principal Investigator

EMI Mitsuru  Nippon Medical School, Institute of Gerontology, Professor, 老人病研究所, 教授 (90221118)

Project Period (FY) 1998 – 1999
Project Status Completed(Fiscal Year 1999)
Budget Amount *help
¥1,000,000 (Direct Cost : ¥1,000,000)
Fiscal Year 1999 : ¥1,000,000 (Direct Cost : ¥1,000,000)
KeywordsUterine myoma / gene fusion / HMGI-C / Chromosome 12 / translocation / COSVIc / 子宮平滑筋腫 / 間葉系良性腫瘍 / 第12番染色体長腕 / 遺伝子の再構成 / 融合遺伝子
Research Abstract

Cytogenetic analyses have shown that aberrations involving 12q13-15 are frequent chromosomal changes in a variety of human benign mesenchymal tumors, e.g., pleomorphic adenomas of the parotid gland, pulmonary chondroid hamartomas, lipomas, and uterine leiomyomas. Recently, the high-mobility group protein gene HMGIC was identified as the target gene affected by the 12q13-15 aberrations. Using 3' rapid amplification of cDNA ends experiments, we isolated novel ectopic sequences fused to HMGIC in a uterine leiomyoma. Cloning of the fusion cDNA identified the human cytochrome c oxidase subunit Vic (COX6c) gene on 8q22-23 as the fusion partner of HMGIC. Nucleotide sequences of the fusion transcript revealed that the first three exons of the HMGIC gene, encoding the three DNA binding domains, was fused to the exon 2 of the COX6C gene. The identification of a gene rearrangement suggests a role for HMGIC in tumorigenesis of uterine leiomyoma, and suggests a possible involvement of HMGIC in mesenchymal differentiation.

Report

(3results)
  • 1999 Annual Research Report   Final Research Report Summary
  • 1998 Annual Research Report

Research Products

(24results)

All Other

All Publications

  • [Publications] Kurose, K., Emi, M. et al.: "Novel Gene Fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a Uterine Leiomyoma"Genes, Chrom. Cancer.. 27. 303-307 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Nakata, T., Emi, M. et al.: "Fusion of a Novel Gene, ELKS, to c-ret due to Translocation t(10;12)(q11;p13)in a Papillary Thyroid Carcinoma"Genes, Chrom. Cancer.. 25. 97-103 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yokota, T., Emi, M. et al: "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma"J.Hum.Genet.. 45. 6-11 (2000)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Koyama, M., Emi, M. et al.: "Inactivation of Both Alleles of the DPC4/SMAD4 Gene in Advanced Colorectal Cancers : Identification of Seven Novel Somatic Mutations in Tumors from Japanese Patients"Mutation Res.Genom.. 406. 71-77 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Emi, M. et al.: "Allelic loss at lp34, 13q12, 17p13.3, and 17q21.1 Correlates with Poor Postoperative Prognosis in Breast Cancer"Genes, Chrom. Cancer. 26. 134-141 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kurose, K., Emi, M. et al.: "Variant manifestation of Cowden Disease in Japan : Hamartomatous polyposis of the Digestive Tract with Mutation of the PTEN Gene"Am. J. Hum. Genet.. 64. 308-310 (1999)

    • Description
      「研究成果報告書概要(和文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] I. Kurose, K., Mine, N,m Doi, D., Ota, Y., Yoneyama, K., Konishi, H., Araki, T. & Emi, M.: "Novel Gene Fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a Uterine Leiomyoma."Genes, Chrom. Cancer.. 27. 303-307 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Nakata T, Kitamura Y, Shimizu K, Tanaka S, Fujimori M, Yokoyama S, Ito K. & Emi M: "Fusion of a Novel Gene, ELKS, to c-ret due to Translocation t (10 ; 12) (q11 ; 13) in a Papillary Thyroid Carcinoma."Genes, Chrom. Cancer.. 25. 97-103 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Yokota. T., Nakata, T., Minami, S., Inazawa, J. & Emi, M.: "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma."J. Hum. Genet.. 45. 6-11 (2000)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Koyama M, Ito M, Nagai H, Emi M, Moriyama: "Inactivation of Both Alleles of the DPC4/SMAD4 Gene in Advanced Colorectal Cancers : Identification of Seven Novel Somatic Mutations in Tumors from Japanese Patients."Mutation Res. Genom.. 406. 71-77 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Emi M, Yoshimoto M, Sato T, Matsumoto S, Utada Y, Iwase T, Ito I, Minobe K, Tada T, Katagiri T, Bando K, Akiyama F, Harada Y, Fukino K, Sakamoto G, Matsushima M, Iida A, Saito H, Miki Y, Kasumi F. & Nakamura Y: "Allelic loss at 1p34, 13q12, 17q13.3, and 17q21.1 Correlates with Poor Postoperative Prognosis in Breast Cancer."Genes, Chrom. Cancer.. 26. 134-141 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kurose K, Araki T, Matsunaka T, Takada Y, & Emi M.: "Variant manifestation of Cowden Disease in Japan : Hamartomatous polyposis of the Digestive Tract with Mutation of the PTEN Gene."Am. J. Hum. Genet.. 64. 308-310 (1999)

    • Description
      「研究成果報告書概要(欧文)」より
    • Related Report
      1999 Final Research Report Summary
  • [Publications] Kurose,K.,Emi,M. et al.: "Novel Gene Fusion of COX6C at 8q22-23 to HMGIC at 12q15 in a Uterine Leiomyoma."Genes, Chrom. Cancer.. 27. 303-307 (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Nakata,T.,Emi,M. et al.: "Fusion of a Novel Gene, ELKS, to c-ret due to Translocation t(10;12)(q11;p13) in a Papillary Thyroid Carcinoma."Genes, Chrom. Cancer.. 25. 97-103 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Yokota,T.,Emi,M. et al.: "Genomic organization and chromosomal mapping of ELKS, a gene rearranged in a papillary thyroid carcinoma."J. Hum. Genet.. 45. 6-11 (2000)

    • Related Report
      1999 Annual Research Report
  • [Publications] Koyama,M.,Emi,M. et al.: "Inactivation of Both Alleles of the DPC4/SMAD4 Gene in Advanced Colorectal Cancers: Identification of Seven Novel Somatic Mutations in Tumors from Japanese Patients."Mutation Res. Genom.. 406. 71-77 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Emi,M. et al.: "Allelic loss at 1p34, 13q12, 17p13.3, and 17q21.1 Correlates with Poor Postoperative Prognosis in Breast Cancer."Genes, Chrom. Cancer.. 26. 134-141 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kurose,K.,Emi,M. et al.: "Variant manifestation of Cowden Disease in Japan: Hamartomatous polyposis of the Digestive Tract with Mutation of the PTEN Gene."Am. J. Hum. Genet.. 64. 308-310 (1999)

    • Related Report
      1999 Annual Research Report
  • [Publications] Kurose,K. et al.: "Frequent Allelic Loss at 7p14-15 Associated with Aggressive Histologic Types of Breast Cancer." Jpn.J.Cancer Res.89. 533-538 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kurose,K. et al.: "Somatic Mutations of the PTEN/MMAC1 Gene in Fifteen Japanese Endometrial Cancers : Evidence for Inactivation of Both Alleles." Jpn.J.Cancer Res.89. 842-848 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Emi,M. et al.: "Muttiplex mutation screening of the BRCA1 gene in 1000 Japanese breast cancers." Jpn.J.Cancer Res.89. 12-16 (1998)

    • Related Report
      1998 Annual Research Report
  • [Publications] Kurose,K. et al.: "Variant manifestation of Cowden Disease in Japan : Hamartomatous polyposis of the Digestive Tract with Mutation of the PTEN Gene." Am.J.Hum.Genet.64. 308-310 (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Nakata,T. et al.: "Fusion of a Novel Gene, ELKS, to c-ret due to Translocation t(10 ; 12)(q11 ; p13) in a Papillary Thyroid Carcinoma." Genes., Chrom. Cancer.25(in press). (1999)

    • Related Report
      1998 Annual Research Report
  • [Publications] Emi,M. et al.: "Loss of BRCA1, BRCA2, lp34ε17p13.3 loci Correlate with Poor Postoperative prognosis in Breast Cancer." Genes., Chrom. Cancer.25(in press). (1999)

    • Related Report
      1998 Annual Research Report

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Published : 1999-04-01   Modified : 2016-04-21  

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