Epigenetic analysis and clinical application in gynecologic malignant tumors

2022 Fiscal Year Final Research Report

• Project/Area Number: 17K16881
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Obstetrics and gynecology
• Research Institution: Japanese Foundation for Cancer Research (2021-2022); Keio University (2019-2020); 独立行政法人国立病院機構(東京医療センター臨床研究センター) (2017-2018)
• Principal Investigator: UEKI Arisa 公益財団法人がん研究会, 有明病院 臨床遺伝医療部, 部長 (60445319)
• Project Period (FY): 2017-04-01 – 2023-03-31
• Keywords: エピジェネティクス / 遺伝性腫瘍 / メチル化

Outline of Final Research Achievements

Epigenetic modification in carcinogenesis have been reported and attracted attention in some carcinomas. In particular, some hereditary tumors have been reported to be associated with promoter hypermethylation upstream of causative genes. Initially, this study was designed to analyze epigenetic modification in gynecologic malignancies. The recent clinical application of cancer genomic medicine has made it possible to use both exome and whole genome analysis results from various cancers. Therefore, we examined about 500 cancer genome analysis results and epigenetic-related gene expression in various cancers.

Free Research Field

遺伝性腫瘍

Academic Significance and Societal Importance of the Research Achievements

がん遺伝子パネル検査の保険収載を受けて、発がんドライバーの検討は一般診療の中でも必須となりつつある。一方でエピジェネティックな修飾機序は、通常のがん遺伝子パネル検査では十分に解析できず、また治療に直結できない点で課題は残るものの、新たな治療戦略として期待されている。社会背景の変化を受け本研究ではgermline findingsの検出頻度、開示方法についても検討し、遺伝性腫瘍診断を治療選択に活用するための社会実装に携わった。