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Oncogenic properties via MAPK signaling of the SOX5-RAF1 fusion gene identified in a wild-type NRAS/BRAF giant congenital nevus.

Pigment cell & melanoma research - 1 Jul 2022

Vinyals Antònia, Ferreres Josep R, Calbet-Llopart Neus, Ramos Raquel, Tell-Martí Gemma, Carrera Cristina, Marcoval Joaquim, Puig Susana, Malvehy Josep, Puig-Butillé Joan Anton, Fabra Àngels

Abstract excerpt

We recently reported an RAF rearrangement without NRAS or BRAF mutations in lesions from Giant Congenital Melanocytic Nevi (CMN). The new gene fusion involves the 5'-end of the promoter-containing N terminus of the SOX5 gene fused to exons 7-16 of the 3'-end of RAF1 gene leading to a SOX5-RAF1 fusion transcript which loses the auto-inhibitory CR1 domain but retains the complete in-frame coding sequence for the...

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PMID: 35587097
DOI: 10.1111/pcmr.13044

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