News Releases & Research Results Discovery of a novel mutation involved in the progression of childhood brain tumor: A strategic foundation for personalized treatment for various cancers based on cell type

The results of the international collaborative research work conducted by the research group of the Section Chief Daisuke Kawauchi of the Department of Biochemistry and Cellular Biology, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP); the German Cancer Research Center; and the U.S. St. Jude Children's Research Hospital.

• Focusing on the loss-of-function mutations in the "BCL6 co-repressor (BCOR) gene" that are frequently observed during the development of "medulloblastoma," a malignant tumor in children arising from the cerebellum, the research group established an animal model of medulloblastoma and investigated the impact of a BCOR mutation on tumor formation.
• The results of the analysis revealed that the suppression of the BCOR gene in the animal model of medulloblastoma enhanced the expression of "insulin-like growth factor 2 (IGF2)", which is known to stimulate cell growth and accelerate cancer formation.
• The mutation in the BCOR gene identified in this research is expected to be a useful molecular diagnostic marker not only for the personalized treatment of medulloblastoma, but also various other cancers based on cell type.

This research project was conducted with the support of the Practical Research for Innovative Cancer Control by AMED.

The results of this research project were published online in Genes and Development on August 20.

Lena M. Kutscher, et al. Functional loss of a non-canonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation Genes and Development
DOI：10.1101/gad.337584.120