DNA mutations linked to serious children's cancer discovered - Medicine

Thanks to bioinformatics, some rare genetic variants have been identified that predispose to neuroblastoma, a malignant tumor of the nervous system that affects about 15,000 children and adolescents worldwide every year, more than a hundred in Italy, and is considered the first cause of death and the third neoplasm by frequency after childhood leukemia and brain tumors. The result, which opens up new perspectives for early diagnosis and personalized treatment of the disease, is published in the journal eBioMedicine by researchers led by Mario Capasso and Achille Iolascon del Ceinge, respectively associate and full professor of Medical Genetics at the University of Naples Frederick II.

The research, funded by Open Onlus, the Italian Foundation for the Fight against Neuroblastoma and the Airc Foundation for cancer research, is based on the analysis of the largest case series ever studied to date. All the genetic data has been made available in an online database that other scholars will be able to freely consult to develop new research.

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DNA mutations linked to serious children’s cancer discovered – Medicine