Annotation Detail

Information
Associated Genes
NTRK3
Associated Variants
NTRK3 ETV6-NTRK3 G623R
Associated Disease
breast cancer
Source Database
CIViC Evidence
Description
Case report of a patient with mammary analogue secretory carcinoma (MASC) harboring an etv6-ntrk3 fusion. The patient was treated with entrectinib and exhibited a partial response for 7 months followed by disease progression. A NTRK3 exon 16 G623R (c.1867G>A) mutation was identified in the progressive tumor. Cell line and structural models revealed that this mutation conferred relative resistance to entrectinib.
Variant Origin
somatic
Variant Origin
Somatic
Evidence URL
https://civic.genome.wustl.edu/links/evidence_items/1874
Gene URL
https://civic.genome.wustl.edu/links/genes/3985
Variant URL
https://civic.genome.wustl.edu/links/variants/805
Rating
4
Evidence Type
Predictive
Disease
Breast Cancer
Evidence Direction
Supports
Drug
Entrectinib
Evidence Level
C
Clinical Significance
Resistance
Pubmed
26884591
Drugs
Drug NameSensitivitySupported
EntrectinibResitance or Non-Reponsetrue