Identification of c-KIT mutation on exons 9 and 11 in gastrointestinal stromal tumour

Gunjača, Ivana (2010) Identification of c-KIT mutation on exons 9 and 11 in gastrointestinal stromal tumour. Diploma thesis, Faculty of Science > Department of Biology.

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Abstract

Gastrointestinal stromal tumors (GISTs) are the most common primary mesenchymal tumours of the gastrointestinal tract and are characterized by overexpression and mutation of c-KIT, receptor tyrosine kinase. Somatic mutations that result in constitutive activation of KIT kinase have been identified in a number of clinical studies of GISTs, although the reported frequency of these mutations has varied over a wide range. Several reports have suggested that KIT gene mutations are more common in malignant GISTs than in benign lesions, and it has been proposed that mutations in exon 9 and exon 11 of KIT are negative prognostic factor. In this study mutations were characterised by direct DNA sequencing for screening polymerase chain reaction amplimers of exons 9 and 11 from GIST genomic DNA. Missense mutations within the exon 11 have been identified in nine (75%) of twelve patients, one patient had a deletion in exon 11 and one patient had a insertion within exon 9 of KIT.

Item Type: Thesis (Diploma thesis)
Keywords: GIST, c-KIT, imatinib mesilat, polymerase chain reaction, direct sequencing
Supervisor: Drmić Hofman, Irena
Co-supervisor: Matulić, Maja
Date: 2010
Number of Pages: 27
Subjects: NATURAL SCIENCES > Biology
Divisions: Faculty of Science > Department of Biology
Depositing User: Silvana Šehić
Date Deposited: 17 Sep 2014 10:13
Last Modified: 17 Sep 2014 10:13
URI: http://digre.pmf.unizg.hr/id/eprint/2778

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