Annotation Detail

Information
Associated Genes
RET
Associated Variants
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000713926.1, ENST00000355710.8, ENST00000615310.5 )
RET p.Met918Thr (p.M918T) ( ENST00000340058.6, ENST00000355710.8, ENST00000615310.5, ENST00000713926.1 )
Associated Disease
thyroid gland medullary carcinoma
Source Database
CIViC Evidence
Description
In a phase 2 clinical trial of sorafenib in patients with hereditary or sporadic advanced medullary thyroid cancer, 10 out of 12 patients genotyped in arm B (sporadic MTC) tested positive for RET mutations. In response to sorafenib, 8 patients with RET M918T mutations had stable disease, 1 RET M918T mutant had partial response, and 1 patient with a RET C634R mutation had stable disease. Prior to study entry, all patients with RET M918T mutations had progressive disease or were newly diagnosed.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1365
Gene URL
https://civic.genome.wustl.edu/links/genes/42
Variant URL
https://civic.genome.wustl.edu/links/variants/113
Rating
3
Evidence Type
Predictive
Disease
Thyroid Gland Medullary Carcinoma
Evidence Direction
Supports
Drug
Sorafenib
Evidence Level
B
Clinical Significance
Sensitivity/Response
Pubmed
20368568
Drugs
Drug NameSensitivitySupported
SorafenibSensitivitytrue