Article
Disruption of the TP53 locus in osteosarcoma leads to TP53 promoter gene fusions and restoration of parts of the TP53 signalling pathway.
The Journal of pathology - 1 Feb 2024
Saba Karim H, Difilippo Valeria, Kovac Michal, Cornmark Louise, Magnusson Linda, Nilsson Jenny, van den Bos Hilda, Spierings Diana Cj, Bidgoli Mahtab, Jonson Tord, Sumathi Vaiyapuri P, Brosjö Otte, Staaf Johan, Foijer Floris, Styring Emelie, Nathrath Michaela, Baumhoer Daniel, Nord Karolin H
Abstract excerpt
TP53 is the most frequently mutated gene in human cancer. This gene shows not only loss-of-function mutations but also recurrent missense mutations with gain-of-function activity. We have studied the primary bone malignancy osteosarcoma, which harbours one of the most rearranged genomes of all cancers. This is odd since it primarily affects children and adolescents who have not lived the long life thought...
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