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Analyses of mutations in cancer-related genes in skin tumors for the development of personalized medicine

Research Project

Project/Area Number 26860865
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeMulti-year Fund
Research Field Dermatology
Research InstitutionHirosaki University

Principal Investigator

Rokunohe Daiki  弘前大学, 医学(系)研究科(研究院), 助教 (50436036)

Project Period (FY) 2014-04-01 – 2016-03-31
Project Status Completed (Fiscal Year 2015)
Budget Amount *help
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2015: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2014: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords皮膚腫瘍 / 遺伝子変異 / 皮膚癌 / 分子標的薬 / 皮膚悪性腫瘍
Outline of Final Research Achievements

We used the SNaPshot method in order to efficiently detect the mutation hot spots in the tumor related genes in various skin tumors. The SNaPshot enabled us to analyze multiple genes simultaneously. We detected KRAS mutations in 2 out of 51 non melanoma skin cancer samples. Then, we found 7 mutations in 7 out of 31 melanoma samples (31%) in the cancer-related genes analyzed (BRAF, HRAS and KRAS). Furthermore, we did a mutation analysis for beta-catenin gene CTNNB1 in a hybrid cyst in which a pilomatricoma and an epidermoid cyst coexisted, and detected a missense mutation at the phosphorylation site of beta-catenin. In this study, we obtained useful data about mutations in cancer-related genes in various skin tumors and it will be helpful for developing new drugs in the future.

Report

(3 results)
  • 2015 Annual Research Report   Final Research Report ( PDF )
  • 2014 Research-status Report
  • Research Products

    (5 results)

All 2016 2015

All Journal Article (2 results) (of which Peer Reviewed: 2 results,  Open Access: 2 results) Presentation (3 results) (of which Invited: 1 results)

  • [Journal Article] Primary Amelanotic Rhabdoid Melanoma: A Case Report with Review of the Literature.2015

    • Author(s)
      Kaneko T, Korekawa A, Akasaka E, Rokunohe D, Nakano H, Sawamura D
    • Journal Title

      Case Rep Dermatol

      Volume: 7 Issue: 3 Pages: 292-297

    • DOI

      10.1159/000441347

    • Related Report
      2015 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Two Japanese familial cases of punctate palmoplantar keratoderma caused by a novel AAGAB mutation, c.191_194delCAAA.2015

    • Author(s)
      Akasaka E, Okawa Y, Nakano H, Takiyoshi N, Rokunohe D, Toyomaki Y, Sawamura D, Sueki H.
    • Journal Title

      J Dermatol Sci

      Volume: 78 Issue: 2 Pages: 156-158

    • DOI

      10.1016/j.jdermsci.2015.02.004

    • Related Report
      2014 Research-status Report
    • Peer Reviewed / Open Access
  • [Presentation] Symplastic glomus tumorの1例2016

    • Author(s)
      六戸大樹、金子高英、牧田瑛子、櫻庭裕佑、萩原千尋、中野 創、澤村大輔
    • Organizer
      日本皮膚科学会岩手地方会第373回例会
    • Place of Presentation
      マリオス(岩手県盛岡市)
    • Year and Date
      2016-02-06
    • Related Report
      2015 Annual Research Report
  • [Presentation] HPV16を検出した外陰部Bowen癌の1例~当科で経験した外陰部原発有棘細胞癌およびBowen病のHPV検索結果を含めて~.2015

    • Author(s)
      六戸大樹、金子高英、松井彰伸、牧田瑛子、黒川景子、金城千尋、是川あゆ美、六戸亜希子、中野創、澤村大輔
    • Organizer
      第67回日本皮膚科学会西部支部学術大会
    • Place of Presentation
      長崎ブリックホール/長崎新聞文化ホール(長崎県長崎市)
    • Year and Date
      2015-10-17
    • Related Report
      2015 Annual Research Report
  • [Presentation] 当科で治療した皮膚腫瘍症例について2015

    • Author(s)
      六戸大樹
    • Organizer
      第121回弘前皮膚科専門医会
    • Place of Presentation
      ホテルナクアシティ弘前(青森県弘前市)
    • Year and Date
      2015-09-19
    • Related Report
      2015 Annual Research Report
    • Invited

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Published: 2014-04-04   Modified: 2017-05-10  

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