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Germline mutations causing familial lung cancer

Research Project

Project/Area Number 25462180
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Research Field Respiratory surgery
Research InstitutionNagasaki University

Principal Investigator

MIYAZAKI Takuro  長崎大学, 病院(医学系), 助教 (00584749)

Co-Investigator(Kenkyū-buntansha) NAGAYASU Takeshi  長崎大学, 医歯薬学総合研究科(医学系), 教授 (80284686)
TSUCHIYA Tomoshi  長崎大学, 医歯薬学総合研究科(医学系), 准教授 (30437884)
MATSUMOTO Keitaro  長崎大学, 医歯薬学総合研究科(医学系), 講師 (80404268)
KUBO Toru  長崎大学, 熱帯医学研究所, 客員研究員 (50444873)
Project Period (FY) 2013-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥4,420,000 (Direct Cost: ¥3,400,000、Indirect Cost: ¥1,020,000)
Fiscal Year 2015: ¥910,000 (Direct Cost: ¥700,000、Indirect Cost: ¥210,000)
Fiscal Year 2014: ¥2,470,000 (Direct Cost: ¥1,900,000、Indirect Cost: ¥570,000)
Fiscal Year 2013: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Keywords家族性肺癌 / exome解析
Outline of Final Research Achievements

To identify the gene(s) that cause lung cancer in this pedigree, we extracted DNA from the peripheral blood of three individuals and from the blood of one cancer-free control family member and performed whole-exome sequencing. We identified 41 alterations in 40 genes in all affected family members but not in the unaffected member. These were considered candidate mutations for familial lung cancer. Next, to identify somatic mutations and/orinherited alterations in these 40 genes among sporadic lung cancers, we performed exon target enrichment sequencing using 192 samples from sporadic lung cancer patients. We detected somatic ‘candidate’ mutations in multiple sporadic lung cancer samples; MAST1, CENPE, CACNB2 and LCT were the most promising candidate genes. In addition, the MAST1 gene was located in a putative cancer-linked locus in the pedigree. Our data suggest that several genes act as oncogenic drivers in this family, and that MAST1 is most likely to cause lung cancer.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2013 Research-status Report
  • Research Products

    (2 results)

All 2015 Other

All Journal Article (1 results) (of which Peer Reviewed: 1 results) Presentation (1 results)

  • [Journal Article] Germline mutations causing familial lung cancer.2015

    • Author(s)
      Tomoshige K, Matsumoto K, Tsuchiya T, Oikawa M, Miyazaki T, Yamasaki N, Mishima H, Kinoshita A, Kubo T, Fukushima K, Yoshiura K, Nagayasu T
    • Journal Title

      J Hum Genet

      Volume: 60 Pages: 597-603

    • NAID

      40020621414

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed
  • [Presentation] 次世代シーケンサーを用いたエキソーム解析による家族性肺癌責任遺伝子の同定

    • Author(s)
      朝重耕一、宮崎拓郎、松本桂太郎、土谷智史、山崎直哉、永安武
    • Organizer
      第113回 日本外科学会
    • Place of Presentation
      福岡国際会議場(福岡市)
    • Related Report
      2013 Research-status Report

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Published: 2014-07-25   Modified: 2019-07-29  

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