A study utilizing the research resources of BioBank Japan (BBJ) has been published in Communications Medicine.

Researcher Keijiro Mizukami and Team Director Yukihide Momozawa of the RIKEN Center for Integrative Medical Sciences, together with Project Professor Koichi Matsuda of The Institute of Medical Science, The University of Tokyo, conducted a pan-cancer genomic analysis of germline pathogenic variants in the DNA mismatch-repair (MMR) genes MLH1, MSH2, MSH6, and PMS2 – the causative genes of Lynch syndrome. The study analyzed 112,927 unselected individuals (patients with 23 cancer types and a control group) from BioBank Japan. Lynch syndrome is known to increase the risk of several cancers, including colorectal and endometrial cancer. The analysis clarified the prevalence of pathogenic variants across cancer types, the associated cancer risks, and the clinical characteristics of individuals carrying these variants.
This study represents a large-scale genomic analysis of Lynch syndrome using samples from Japanese biobanks, and its findings are expected to contribute to the development of guidelines for genetic counseling.

Original paper

Pan-cancer prevalence, risk, and clinical and demographic characteristics of Lynch Syndrome-associated variants in BioBank Japan
Commun Med (Lond). 2025 Nov 13.

Press Release article in Japanese

https://www.ims.u-tokyo.ac.jp/imsut/jp/about/press/page_00360.html