Dissemin is shutting down on January 1st, 2025

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Lippincott, Williams & Wilkins, Melanoma Research, 4(24), p. 332-334, 2014

DOI: 10.1097/cmr.0000000000000071

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Rare SF3B1 R625 mutations in cutaneous melanoma

Journal article published in 2014 by Yong Kong, Michael Krauthammer ORCID, Ruth Halaban
This paper is available in a repository.
This paper is available in a repository.

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Data provided by SHERPA/RoMEO

Abstract

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. Out of these cutaneous melanoma samples, we found 2 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%).