A study utilizing the research resources of BioBank Japan (BBJ) has been published in JCO precision oncology.

An international research team including Yuri Takehara, Graduate Student and Research Associate at RIKEN, and Koichi Matsuda, Project Professor at the Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo, conducted genome-wide analysis of approximately 110,000 DNA samples registered in BBJ focusing on CHEK2, a cancer-predisposition gene, across 23 cancer types. The team revealed that pathogenic variants in CHEK2 increase the risk of developing breast cancer and prostate cancer. The research group also identified genetic variants in CHEK2 with high frequency in the Japanese population by incorporating functional analysis into the pathogenicity assessment of variants in CHEK2.

Original paper:

Case-Control Study for 23 Cancer Types With Functional Analysis of CHEK2: Risk Estimation and Clinical Recommendations in East Asia

Press release article from the University of Tokyo (Japanese only) :

https://www.ims.u-tokyo.ac.jp/imsut/jp/about/press/page_00351.html