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Rare SF3B1 R625 mutations in cutaneous melanoma.
- Source :
-
Melanoma research [Melanoma Res] 2014 Aug; Vol. 24 (4), pp. 332-4. - Publication Year :
- 2014
-
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. 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%).
- Subjects :
- Base Sequence
Cohort Studies
Exome
Genes, ras
High-Throughput Nucleotide Sequencing
Humans
Proto-Oncogene Proteins B-raf genetics
RNA Splicing Factors
Melanoma, Cutaneous Malignant
Exons
Melanoma genetics
Mutation
Phosphoproteins genetics
Ribonucleoprotein, U2 Small Nuclear genetics
Skin Neoplasms genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1473-5636
- Volume :
- 24
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Melanoma research
- Publication Type :
- Academic Journal
- Accession number :
- 24709888
- Full Text :
- https://doi.org/10.1097/CMR.0000000000000071