Gastrointestinal stromal tumors: a case-only analysis of single nucleotide polymorphisms and somatic mutations
نویسندگان
چکیده
منابع مشابه
Gastrointestinal Stromal Tumors, Somatic Mutations and Candidate Genetic Risk Variants
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...
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Gastrointestinal Stromal tumors occur in the entire GI tract and are the most common mesenchymal tumours of the GI tract A great majority of them occur in the stomach (60% to 70%) and small intestine (25% to 35%), with rare occurrence in the colon and rectum (5%), oesophagus (<2%) and appendix. Here is a case series of 21 cases in our institution from Jan 2008 to July 2017 diagnosed as gastroin...
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Background: Gastrointestinal stromal tumors (GISTs) constitute the majority of gastrointestinal mesenchymal tumors. They usually express a proto-oncogen protein called CD117 detected by immunohistochemistry. This study investigated the differentiation of GISTs as well as the risk of aggressive behaviors in GISTs from surgically-treated patients in university affiliated hospitals. Methods: The c...
متن کاملSingle Nucleotide Polymorphisms and Association Studies: A Few Critical Points
Uncovering DNA sequence variations that correlate with phenotypic changes, e.g., diseases, is the aim of sequence variation studies. Common types sequence variations are Single nucleotide polymorphism (SNP, pronounced snip).SNPs are the third-generation molecular marker. SNP represents a DNA sequence variant of a single base pair with the minor allele occurring in more than 1% of a given popula...
متن کاملGastrointestinal stromal tumors: a case report.
Advances in the identification of gastrointestinal stromal tumors, its molecular and immunohiostochemical basis, and its management have been a watershed in the treatment of gastrointestinal tumors. This paradigm shift occurred over the last two decades and gastrointestinal stromal tumors have now come to be understood as rare gastrointestinal tract tumors with predictable behavior and outcome,...
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ژورنال
عنوان ژورنال: Clinical Sarcoma Research
سال: 2013
ISSN: 2045-3329
DOI: 10.1186/2045-3329-3-12