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Melanoma Res. 2014 Aug;24(4):332-4. doi: 10.1097/CMR.0000000000000071.

Rare SF3B1 R625 mutations in cutaneous melanoma.

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aDepartment of Molecular Biophysics and Biochemistry bW.M. Keck Foundation Biotechnology Resource Laboratory cDepartment of Pathology dDepartment of Dermatology, Yale University, School of Medicine, New Haven, Connecticut, USA.


RNA splicing is the cellular process that has only recently been found to be an important target for various cancers. Among the spliceosome genes that are involved in cancers, SF3B1 is most frequently mutated. Recurrent mutation in codon 625 has been found in uveal melanoma, but this mutation has not been identified in cutaneous melanoma. We used whole-exome sequencing to explore the mutational landscape of 295 melanoma samples, 231 of which are cutaneous melanoma. Among these cutaneous melanoma samples, we found two samples with R625 mutation in SF3B1 gene. The results were validated by Sanger sequencing. We conclude that SF3B1 R625 mutation does occur in cutaneous melanoma, although with a low frequency (∼1%).

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