2005
DOI: 10.1158/1078-0432.ccr-04-2515
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Abstract: Purpose: Gastrointestinal stromal tumors (GIST) are characterized by expressing a gainof-function mutation in KIT, and to a lesser extent, PDGFR. Imatinib mesylate, a tyrosine kinase inhibitor, has activity against GISTs that contain oncogenic mutations of KIT. In this study, KIT and PDGFRa mutation status was analyzed and protein modeling approaches were used to assess the potential effect of KIT mutations in response to imatinib therapy. Experimental Design: Genomic DNA was isolated from GIST tumors. Exons 9… Show more

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Cited by 103 publications
(78 citation statements)
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“…The primary JM KIT mutation in GIST patients has been proposed to negatively impact the inhibitory conformation of the JM domain (16), an effect also observed for the A-loop mutant D816H in our studies. Because sunitinib and imatinib efficacies 5.…”
Section: Discussionsupporting
confidence: 81%
“…The primary JM KIT mutation in GIST patients has been proposed to negatively impact the inhibitory conformation of the JM domain (16), an effect also observed for the A-loop mutant D816H in our studies. Because sunitinib and imatinib efficacies 5.…”
Section: Discussionsupporting
confidence: 81%
“…30,31,33,34,[36][37][38][39][40]43,44,46,49 KIT-Val559Ala mutation is the most frequent type, which has been detected in five families. 33,34,38,39,49 Recently, we found a germline mutation at exon 11, KIT-Tyr553Cys, in a 68-yearold woman with multiple GISTs.…”
Section: Discussionmentioning
confidence: 99%
“…As described above, various types of exon 11 germline c-kit gene mutations have been reported, 30,31,33,34,[36][37][38][39][40]43,44,46,49 but KIT-Tyr553Cys mutation has not been reported yet. Even in somatic c-kit gene mutation in sporadic GISTs, substitution of amino acid at codon 553 appears to be very rare.…”
Section: Familal Gists With Kit-tyr553cysmentioning
confidence: 99%
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“…Ряд авторов связывает данный тип мутаций с высокой степенью злокачественности опу-холи [35,36]. Другие считают, что мутации в 11 экзоне KIT часто встречаются в доброка-чественных ГИСО [37].…”
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