Article
Gastrointestinal stromal tumors, somatic mutations and candidate genetic risk variants.
PloS one - 1 Jan 2013
O'Brien Katie M, Orlow Irene, Antonescu Cristina R, Ballman Karla, McCall Linda, DeMatteo Ronald, Engel Lawrence S
Abstract excerpt
Gastrointestinal stromal tumors (GISTs) are rare but treatable soft tissue sarcomas. Nearly all GISTs have somatic mutations in either the KIT or PDGFRA gene, but there are no known inherited genetic risk factors. We assessed the relationship between KIT/PDGFRA mutations and select deletions or single nucleotide polymorphisms (SNPs) in 279 participants from a clinical trial of adjuvant imatinib mesylate. Given...
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