演題抄録

臓器別シンポジウム

開催概要
開催回
第58回・2020年・京都
 

Biobank Japan Projectから見えてきた日本のがんゲノム医療の将来:乳癌を中心に

演題番号 : SY1-3

[筆頭演者]
桃沢 幸秀:1 

1:理化学研究所・生命科学研究センター・基盤技術開発研究チーム

 

BioBank Japan (BBJ) was developed in 2003 to provide a research basement for personalized medicine. Now, BBJ has genomic DNA, serum, and clinical information in 267,000 patients of 51 complex diseases. Among them, there were 70,000 cancer patients of 14 cancer types. In this project, genetic analyses with genomic DNA have been also conducted to identify susceptibility genes and to estimate disease risk based on genetic variants.

Two types of genetic analyses have been conducted. One is a genome-wide association study (GWAS), in which hundreds of thousand single nucleotide polymorphisms (SNP) are genotyped by SNP array in several thousand cases and controls. The frequency of each SNP is compared between cases and controls to identify SNPs showing significant differences. Such SNPs are considered as genetic markers associated with disease onset. In RIKEN, ~200,000 samples of 47 diseases and 58 quantitative traits have been analyzed to identify >1,600 significantly associated SNP.

The other type of genetic analysis is sequencing. Cancer is one of the typical complex diseases. Both genetic and environmental effects cause onset. However, 5-10% of cancer is caused by only one pathogenic variant in hereditary cancer genes such as BRCA1/2 for breast and ovarian cancer, and MLH1, MSH2, MSH6, PSM2 for colorectal cancers. Once a genetic test reveals that a patient has a pathogenic variant, she/he will receive several types of personalized medicine such as the use of a specific drug, risk-reducing surgery, and special surveillance. In RIKEN, we focused on 27 hereditary cancer genes including the genes mentioned above and we are sequencing their coding regions in all 70,000 cancer patients and 37,000 controls. We already reported results about breast and prostate cancers and expand this effort to other cancer types.

In this presentation, I will show the overview of their main results and discuss personalized medicine of cancer in Japan which was queried by the organizer.

前へ戻る