title: Molecular analysis of the KIT gene in gastrointestinal stromal tumors with novel mutations.
abstract: Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. KIT gene mutations have great importance for GISTs. This study evaluated the relationship between KIT mutations and GIST clinicopathologic features to define region-specific and population-specific differences. Genomic DNA was extracted from 60 GISTs, and polymerase chain reaction was performed for KIT gene exons 9, 11, 13, and 17. Polymerase chain reaction amplicons were sequenced in both directions. This study represents the first mutation data of the KIT gene in GISTs from a Turkish population and reports novel mutations. The mutation rate in exon 11 (46.7%) was remarkably higher than those of the other exons (8.3% for exon 9; 11.7% for exon 13; 1.7% for exon 17). There was an association between malignancy potential and the presence of KIT mutations (odds ratio=3.18). Cases with mutations in codons W557-K558 in exon 11 had 11-fold greater risk of malignancy when compared with those without a mutation in this exon (odds ratio=11). We report different mutations than those previously reported, which emphasizes the importance of personalized medicine that could be empowered by the use of bioinformatics tools in the diagnostic process and therapeutic approaches.
authors: *Department of Basic Oncology, Institute of Oncology, Dokuz Eylul University †Graduate School of Natural and Applied Sciences ‡Department of Chemistry, Division of Biochemistry, Faculty of Science, Kaynaklar Campus Departments of §Medical Oncology ∥Pathology ¶Surgery, Faculty of Medicine #Department of Preventive Oncology, Institute of Oncology, Inciralti, Izmir-Turkey.
authors: Gizem
authors: G
authors: Calibasi
authors: Yasemin
authors: Y
authors: Baskin
authors: Hakan
authors: H
authors: Alyuruk
authors: Levent
authors: L
authors: Cavas
authors: Ilhan
authors: I
authors: Oztop
authors: Ozgul
authors: O
authors: Sagol
authors: Koray
authors: K
authors: Atila
authors: Hulya
authors: H
authors: Ellidokuz
authors: Ugur
authors: U
authors: Yilmaz
mesh_terms: D001483:Base Sequence; D017931:DNA Primers; D046152:Gastrointestinal Stromal Tumors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D017931:DNA Primers; D019009:Proto-Oncogene Proteins c-kit