News Releases & Research Results Development of a new functional analysis method for BRCA2 gene variants that increase the risk of hereditary breast and ovarian cancers

News Releases & Research Results


The results of collaborative R&D project led by Voluntary Trainee Masachika Ikegami, Unit Director Shinji Kohsaka, and Division Leader Hiroyuki Mano of the Division of Cell Signaling, National Cancer Center Research Institute, Director Kenji Tamura of the Department of Breast and Medical Oncology, National Cancer Center Hospital, Professor Sakae Tanaka and Associate Professor Noriko Hosoya of the University of Tokyo Graduate School of Medicine, and Team Leader Yukihide Momozawa of RIKEN Center for Integrative Medical Sciences.

The key results of research are as follows:

  • A high-throughput functional analysis method(*) was developed for the variants (diversity) of tumor suppressor BRCA2 gene involved in hereditary breast and ovarian cancers when mutated.
    * Experimental method to yield a large amount of data in a single experiment by examining many gene variants subject to functional analysis, in parallel rather than isolation.
  • A functional analysis was conducted with 186 BRCA2 gene variants of undetermined significance, with drug susceptibility and carcinogenic risk unknown, resulting in the identification of 37 new pathological variants.
  • Furthermore, a system to rapidly determine and report the pathological significance of newly discovered variants by genetic testing was constructed as an example of clinical application of the method.

This R&D project was conducted with the support of the Practical Research for Innovative Cancer Control and the Program for an Integrated Database of Clinical and Genomic Information by AMED.

The results of R&D were published in the British science journal Nature Communications on May 22.


Ikegami M., et al. High-throughput functional evaluation of BRCA2 variants of unknown significance Nature Communications


Last updated 05/22/20