Detection of SF3B3 gene mutations in oral cancer by high resolution melting analysis.

BACKGROUND:There is a high prevalence of oral cancer in Taiwan, which is associated with betel quid chewing. Gene encoding splicing factors, especially splicing factor 3b subunit 1 (SF3B1), have been shown to be the most highly mutated in various hematological malignancies and have a great influence on clinical outcomes. However, few splicing targets have been identified for oral cancer. The aim of this study was to explore splicing factor 3b subunit 3 (SF3B3) gene mutations in oral cancer. METHODS:High resolution melting (HRM) analysis was used to characterize SF3B3 polymorphisms. Genomic DNA was extracted from 78 oral cancer tissues, and every exon from exon 2 to exon 26 of the SF3B3 gene was screened by HRM analysis. All results were confirmed by direct DNA sequencing over the range of codons of interest. RESULTS:Only one single nucleotide polymorphism with amino acid substitution was found to change from serine to asparagine at codon 811 (S811N) in exon 18 with an allele frequency of 1.3%. CONCLUSIONS:The molecular effects of drugs targeting the splicing factors in various cancers may offer a new perspective for the role in cancer progression and the development of novel antitumor therapy. HRM analysis with direct sequencing over the range of codons of interest is a fast, reliable, accurate, and cost-effective screening method to detect unknown gene mutations.

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