Progressive research on genetic testing for hereditary gastrointestinal tumors and fundamental research on next-generation medical genetics

2021 Fiscal Year Final Research Report

• Project/Area Number: 19K07763
• 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: Kindai University
• Principal Investigator: Tamura Kazuo 近畿大学, 理工学部, 客員教授 (20278823)
• Co-Investigator(Kenkyū-buntansha): 冨田 尚裕 兵庫医科大学, 医学部, 名誉教授 (00252643) ; 川下 理日人 近畿大学, 理工学部, 講師 (00423111)
• Project Period (FY): 2019-04-01 – 2022-03-31
• Keywords: 遺伝性腫瘍 / リンチ症候群 / 家族性腺腫性ポリポーシス / リー・フラウメニ症候群 / 次世代シークエンシング / がんゲノム医療 / 二次的所見 / 遺伝カウンセリング

Outline of Final Research Achievements

Hereditary gastrointestinal tumor syndromes such as Lynch syndrome and familial adenomatous polyposis are well known. These syndromes are diverse, including cases with strong family aggregation and secondary findings in cancer genome profiling tests, and the number of cases is gradually increasing. Therefore, the importance of measures to deal with hereditary tumors is attracting attention.
Based on the pathogenesis of hereditary gastrointestinal tumor syndromes and the characteristics of the causative genes, which we have studied for more than 30 years, we have been able to publish in the past three years the renewal of analytical methods, measures for dealing with cancer, and measures for relatives. In addition, we were able to clarify for the first time in Japan the actual status of Li-Fraumeni syndrome, in which malignant tumors other than those of the gastrointestinal tract occur frequently from childhood to adulthood.

Free Research Field

腫瘍遺伝学

Academic Significance and Societal Importance of the Research Achievements

遺伝性腫瘍の原因となる遺伝子配列のみならず発現過程に関する遺伝学的検査の深化を進め、検査の限界範囲を低減することに貢献できた。がんゲノム医療からの二次的所見の増加と相まってその必要性は一層増すことになった。
がん医療のパラダイムシフトにより、遺伝の両面から適切な対応が希求されており、遺伝カウンセリングの質向上に貢献できた。