Annotation Detail

Information
Associated Genes
KIT
Associated Variants
KIT EXON 9 MUTATION
KIT EXON 9 MUTATION
Associated Disease
gastrointestinal stromal tumor
Source Database
CIViC Evidence
Description
In a phase III clinical trial comparing different doses of imatinib in GIST patients, KIT exon 9 mutations were associated with significantly improved progression free survival (P=0.0013) and a 61% relative risk reduction in response to the higher dose regimen (N=31; 800mg/daily) when compared to the lower dose regimen (N=27; 400 mg/daily; HR 0.329; 95% CI 0.218–0.706). The same dose dependent responses were not observed with KIT exon 11 mutations (N=130 vs 118; P=0.25; HR 0.821; 95% CI 0.585–1.151) or with wild-type KIT (N=25 vs 27; P=0.07; HR 1.823; 95% CI 0.938–3.543).
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1221
Gene URL
https://civic.genome.wustl.edu/links/genes/29
Variant URL
https://civic.genome.wustl.edu/links/variants/509
Rating
4
Evidence Type
Predictive
Disease
Gastrointestinal Stromal Tumor
Evidence Direction
Supports
Drug
Imatinib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
16624552
Drugs
Drug NameSensitivitySupported
ImatinibSensitivitytrue