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2022 Fiscal Year Final Research Report

Analysis of constitutive epimutations of tumor-suppressor genes in normal cells for breast cancer risk assessment

Research Project

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Project/Area Number 19K09063
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeMulti-year Fund
Section一般
Review Section Basic Section 55010:General surgery and pediatric surgery-related
Research Institution株式会社関西メディカルネット(関西電力医学研究所)

Principal Investigator

Fumiaki Sato  株式会社関西メディカルネット(関西電力医学研究所), 外科(神経内分泌腫瘍・乳癌)研究部, 上級特別研究員 (20467426)

Co-Investigator(Kenkyū-buntansha) 川島 雅央  京都大学, 医学研究科, 助教 (80766676)
Project Period (FY) 2019-04-01 – 2023-03-31
Keywords乳癌 / エピジェネティクス
Outline of Final Research Achievements

In this study, we will identify constitutive EpM markers for breast cancer in Japanese women using blood DNA specimens of breast cancer cases and blood DNA specimens of healthy subjects for 11 breast cancer-related genes. From there, we will develop a comprehensive breast cancer risk assessment method based on germline pathogenic variants and constitutive EpM. We designed primer-probe sets to detect aberrant hypermethylation in the promoter regions of 11 breast cancer-related genes. Using NCBI-GEO WBC whole-genome methylation data of nontumor-bearing individuals and whole-genome methylation data of breast cancer tissues and breast cancer cell lines. In the promoter region of each gene, regions were selected that were almost unmethylated in specimens from non-tumor-bearing individuals and that were found to be methylated in breast cancer cells.

Free Research Field

乳癌 エピジェネティクス

Academic Significance and Societal Importance of the Research Achievements

現在、BRCA1/2等の胚細胞系列病的変異キャリアーに対して、積極的なサーベイランスや予防的な外科手術の適応も行われている。それに対して、その他のpopulationには一律の乳がん検診が行われている。近年、癌の治療に関してPrecision Medicineが提唱され、ゲノム情報を用いてより効果の高い治療法の選択を行うという取り組みが進んできている。ならば、がん検診にも生物学的情報を用いたPrecision Surveilenceが求められる時代が遠からず訪れると想定される。本研究課題の目的が達成されれば、その一助になる可能性があると思われる。

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Published: 2024-01-30  

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