Recurrent mutations in NF1 and RASopathy genes melanomas

Posted by & filed under Part 04: CANCER.

A whole-exome sequencing (WES) study on 213 melanomas found that NF1, encoding a negative regulator of RAS mutated in Neurofibromatosis type 1, is the third most frequently mutated gene in melanoma, after BRAF and NRAS. Inactivating NF1 mutations were present in 46% of melanomas expressing wild-type BRAF and RAS, occurred in older patients and showed a distinct pattern of co-mutation with other RASopathy genes, particularly RASA2.

Posted by Nicola Brunetti-Pierri

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