Exploring germline mutations and therapies for hereditary lung cancer using next generation sequencing

2023 Fiscal Year Final Research Report

• Project/Area Number: 20K07606
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 50010:Tumor biology-related
• Research Institution: National Hospital Organization Shikoku Cancer Center
• Principal Investigator: Maki Yuho 独立行政法人国立病院機構四国がんセンター(臨床研究センター), その他部局等, 医師 (20549878)
• Co-Investigator(Kenkyū-buntansha): 山本 寛斉 岡山大学, 大学病院, 講師 (40467733) ; 豊岡 伸一 岡山大学, 医歯薬学総合研究科, 教授 (30397880) ; 冨田 秀太 岡山大学, 大学病院, 准教授 (10372111) ; 諏澤 憲 岡山大学, 大学病院, 助教 (90839713) ; 山下 素弘 独立行政法人国立病院機構四国がんセンター(臨床研究センター), その他部局等, 院長 (40284103)
• Project Period (FY): 2020-04-01 – 2024-03-31
• Keywords: 家族性肺癌 / 次世代シーケンサー

Outline of Final Research Achievements

In Japan, lung cancer is the most leading cause of cancer-related death, but compared to colorectal and breast cancer, little is known about hereditary lung cancer. In this study, we included seven families with lung cancer patients. Of these, two families, in which healthy family members were included, analyzed with next-generation sequencers. Of these two families, three generations of lung cancer families including lung cancer cases in their 40s and at a relatively young age are currently being analyzed. Although the number of identified gene mutations is huge, we have narrowed it down to 10~20 gene mutations that are presumed to have pathological significance. In the future, we will confirm whether these genes are actually causative genes of lung cancer by using existing databases or cell-line experiments.

Free Research Field

肺癌

Academic Significance and Societal Importance of the Research Achievements

肺癌は一般に予後が不良な悪性疾患であるが、早期に発見できれば手術や放射線治療などの局所治療が奏効する。本研究はまだ現時点でシーケンス結果の分析中であるが、家族性肺癌の原因遺伝子が同定できれば、同種の家系においてCTなどのスクリーニングを行う事で早期発見、早期治療が可能となる。また、近年の分子標的薬の開発は、特に肺癌において急速に進んでいるため、同定された遺伝子変異自体を標的とした治療開発の足掛かりともなりえる。