Title |
Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors
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Published in |
BMC Medical Genomics, July 2010
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DOI | 10.1186/1471-2350-11-106 |
Pubmed ID | |
Authors |
Sabine Merkelbach-Bruse, Wolfgang Dietmaier, Laszlo Füzesi, Andreas Gaumann, Florian Haller, Julia Kitz, Antje Krohn, Gunhild Mechtersheimer, Roland Penzel, Hans-Ulrich Schildhaus, Regine Schneider-Stock, Ronald Simon, Eva Wardelmann |
Abstract |
Mutation analysis of KIT and PDGFRA genes in gastrointestinal stromal tumors is gaining increasing importance for prognosis of GISTs and for prediction of treatment response. Several groups have identified specific mutational subtypes in KIT exon 11 associated with an increased risk of metastatic disease whereas GISTs with PDGFRA mutations often behave less aggressive. Furthermore, in advanced GIST disease with proven KIT exon 9 mutation the doubled daily dose of 800 mg imatinib increases the progression free survival and is now recommended both in the European and the American Guidelines. In Germany, there are still no general rules how to perform mutational analysis. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | 4% |
Luxembourg | 1 | 4% |
Unknown | 23 | 92% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 9 | 36% |
Other | 5 | 20% |
Professor | 2 | 8% |
Student > Doctoral Student | 2 | 8% |
Student > Ph. D. Student | 2 | 8% |
Other | 2 | 8% |
Unknown | 3 | 12% |
Readers by discipline | Count | As % |
---|---|---|
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Agricultural and Biological Sciences | 5 | 20% |
Biochemistry, Genetics and Molecular Biology | 2 | 8% |
Philosophy | 2 | 8% |
Psychology | 1 | 4% |
Other | 1 | 4% |
Unknown | 3 | 12% |