Hereditary Gene Defect Found to be Most Common Cause of Childhood Brain Cancer Yet Identified

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There may be a hereditary basis to 40% of cases of a subtype of the childhood brain cancer medulloblastoma, according to the results of a genetic study by international researchers. Led by teams at the Hopp Children’s Cancer Center (KiTZ), and the European Molecular Biology Laboratory (EMBL), the research showed about 14% of children with a form of medulloblastoma known as Sonic Hedgehog (MB_SHH) carried loss of function (LOF) variants in the elongator complex protein 1 (ELP1) gene, which plays a key role in this tumor type by destabilizing the production and breakdown of proteins.

The researchers suspect that protein metabolism defects could be a previously underestimated cause of other types of cancer. “The findings presented here suggest that 14% of pediatric MB_SHH are driven by translational... Read more at the GEN Blog.

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