Research results utilizing the research resources of BioBank Japan (BBJ) have been published in the international medical journal Journal of Thoracic Oncology.

A joint research group led by Kouya Shiraishi of Division of Genome Biology, National Cancer Center Research Institute performed whole genome and whole exome sequencing analyses on 1,773 lung adenocarcinoma (LADC) cases registered in Japanese biobanks including BBJ, and hospitals participating in the research consortium, to investigate the characteristics of cases with early-onset (under 40 years). The analysis revealed a higher frequency of germline pathological variants (GPVs) in the BRCA2 and TP53 genes in early onset cases compared to non-early-onset cases.

Also, a genome analysis of 10,302 patients with LADC and 7,898 cancer-free individuals identified GPVs in the ALKBH2 gene as a novel risk factor for early-onset LADC cases.

Original paper

Genomic profiles of pathogenic and moderate-penetrance germline variants associated with risk of early-onset lung adenocarcinoma
J Thorac Oncol. 2025 Jun 12:S1556-0864(25)00764-6.

Press release article by UTokyo (Japanese only)

https://www.ims.u-tokyo.ac.jp/imsut/jp/about/press/page_00341.html