“In other words, the pR552^* mutant behaves more like a gain-of-function or oncogenic mutant. Indeed, a family carrying this mutation showed complete penetrance and high expressivity.”

BUFFALO, NY- January 29, 2025 – A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, “Analysis of pathogenic variants in retinoblastoma reveals a potential gain of function mutation.”

Researchers from Instituto de Física Universidad Autónoma de San Luis Potosí and