KIT Exon 9 Mutation

Preferred Label : KIT Exon 9 Mutation;

NCIt synonyms : CD117 Exon 9 Mutation; c-KIT Exon 9 Mutation; KIT Proto-Oncogene Tyrosine Protein Kinase Gene Exon 9 Mutation; v-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Exon 9 Mutation;

NCIt related terms : Exon 9;

NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 9 of the KIT gene located within 4q11-q12.;

NCIt note : KIT exon 9 mutations are the second most common mutation in gastrointestinal stromal tumors (GISTs). Compared with those tumors bearing non-exon 9 mutations, GISTs with exon 9 mutations in the KIT gene have a lower response rate and a shorter response to standard dose of imatinib therapies and need to be treated with either higher doses of imatinib or sunitinib-based regimens. (The Life Raft Group);

Details

Origin ID

C104672;

UMLS CUI

C3641850;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Sarcoma Baseline Form [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_mutant_encodes_gene_product_sequence_variation
- KIT Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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