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Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

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Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors. / Merkelbach-Bruse, Sabine; Dietmaier, Wolfgang; Füzesi, Laszlo; Gaumann, Andreas; Haller, Florian; Kitz, Julia; Krohn, Antje; Mechtersheimer, Gunhild; Penzel, Roland; Schildhaus, Hans-Ulrich; Schneider-Stock, Regine; Simon, Ronald; Wardelmann, Eva.

In: BMC MED GENET, Vol. 11, 2010, p. 106.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Merkelbach-Bruse, S, Dietmaier, W, Füzesi, L, Gaumann, A, Haller, F, Kitz, J, Krohn, A, Mechtersheimer, G, Penzel, R, Schildhaus, H-U, Schneider-Stock, R, Simon, R & Wardelmann, E 2010, 'Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.', BMC MED GENET, vol. 11, pp. 106. <http://www.ncbi.nlm.nih.gov/pubmed/20598160?dopt=Citation>

APA

Merkelbach-Bruse, S., Dietmaier, W., Füzesi, L., Gaumann, A., Haller, F., Kitz, J., Krohn, A., Mechtersheimer, G., Penzel, R., Schildhaus, H-U., Schneider-Stock, R., Simon, R., & Wardelmann, E. (2010). Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors. BMC MED GENET, 11, 106. http://www.ncbi.nlm.nih.gov/pubmed/20598160?dopt=Citation

Vancouver

Merkelbach-Bruse S, Dietmaier W, Füzesi L, Gaumann A, Haller F, Kitz J et al. Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors. BMC MED GENET. 2010;11:106.

Bibtex

@article{ad8e7138f4c74981921fd49229435ac6,
title = "Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.",
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.",
keywords = "Germany, Humans, Prognosis, Disease-Free Survival, DNA Mutational Analysis, Exons, *Mutation, Gastrointestinal Stromal Tumors/drug therapy/*genetics/*pathology, Piperazines, Pyrimidines, Receptor, Platelet-Derived Growth Factor alpha/*genetics, Germany, Humans, Prognosis, Disease-Free Survival, DNA Mutational Analysis, Exons, *Mutation, Gastrointestinal Stromal Tumors/drug therapy/*genetics/*pathology, Piperazines, Pyrimidines, Receptor, Platelet-Derived Growth Factor alpha/*genetics",
author = "Sabine Merkelbach-Bruse and Wolfgang Dietmaier and Laszlo F{\"u}zesi and Andreas Gaumann and Florian Haller and Julia Kitz and Antje Krohn and Gunhild Mechtersheimer and Roland Penzel and Hans-Ulrich Schildhaus and Regine Schneider-Stock and Ronald Simon and Eva Wardelmann",
year = "2010",
language = "English",
volume = "11",
pages = "106",
journal = "BMC MED GENET",
issn = "1471-2350",
publisher = "BioMed Central Ltd.",

}

RIS

TY - JOUR

T1 - Pitfalls in mutational testing and reporting of common KIT and PDGFRA mutations in gastrointestinal stromal tumors.

AU - Merkelbach-Bruse, Sabine

AU - Dietmaier, Wolfgang

AU - Füzesi, Laszlo

AU - Gaumann, Andreas

AU - Haller, Florian

AU - Kitz, Julia

AU - Krohn, Antje

AU - Mechtersheimer, Gunhild

AU - Penzel, Roland

AU - Schildhaus, Hans-Ulrich

AU - Schneider-Stock, Regine

AU - Simon, Ronald

AU - Wardelmann, Eva

PY - 2010

Y1 - 2010

N2 - 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.

AB - 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.

KW - Germany

KW - Humans

KW - Prognosis

KW - Disease-Free Survival

KW - DNA Mutational Analysis

KW - Exons

KW - Mutation

KW - Gastrointestinal Stromal Tumors/drug therapy/genetics/pathology

KW - Piperazines

KW - Pyrimidines

KW - Receptor, Platelet-Derived Growth Factor alpha/genetics

KW - Germany

KW - Humans

KW - Prognosis

KW - Disease-Free Survival

KW - DNA Mutational Analysis

KW - Exons

KW - Mutation

KW - Gastrointestinal Stromal Tumors/drug therapy/genetics/pathology

KW - Piperazines

KW - Pyrimidines

KW - Receptor, Platelet-Derived Growth Factor alpha/genetics

M3 - SCORING: Journal article

VL - 11

SP - 106

JO - BMC MED GENET

JF - BMC MED GENET

SN - 1471-2350

ER -