The whole genome analysis to rule out responsible mutation inducing chordoma

2022 Fiscal Year Final Research Report

• Project/Area Number: 18K07330
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 50020:Tumor diagnostics and therapeutics-related
• Research Institution: Jichi Medical University
• Principal Investigator: Akiyama Toru 自治医科大学, 医学部, 教授 (40376471)
• Co-Investigator(Kenkyū-buntansha): 山口 岳彦 獨協医科大学, 医学部, 教授 (80245125) ; 川井 章 国立研究開発法人国立がん研究センター, 中央病院, 科長 (90252965) ; 松田 浩一 東京大学, 大学院新領域創成科学研究科, 教授 (90401257)
• Project Period (FY): 2018-04-01 – 2023-03-31
• Keywords: 脊索腫 / 希少がん / がん遺伝子 / 創薬 / precision medecine / 悪性腫瘍

Outline of Final Research Achievements

The result of 12 specimens of chordoma revealed novel 2 mutation. These mutatios are posotive candidates of driver genes of chordoma occurence. Now, we are writing the paper to report these mutations as driver genes of chordoma occurence, Furthermore, we are preparing for in vitro and in vivo researches to confirm the oncological functions of these mutations in terms of chordoma occurence.

Free Research Field

がん遺伝子

Academic Significance and Societal Importance of the Research Achievements

脊索腫発生に係ると思われる未知の遺伝子変異が複数確認された。本データをもとに研究を進めており、今後、新規治療薬や新規治療選択肢の開発に役立つと思われる。