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Gene | ROS1 |
Variant | E539* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ROS1 E539* results in a premature truncation of the Ros1 protein at amino acid 539 of 2347 (UniProt.org). Due to the loss of the protein kinase domain (UniProt.org), E539* is predicted to lead to a loss of Ros1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ROS1 mutant ROS1 inact mut ROS1 E539* |
Transcript | NM_002944.2 |
gDNA | chr6:g.117389494C>A |
cDNA | c.1615G>T |
Protein | p.E539* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_017011173 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
NM_002944.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_011536051.2 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011172 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_011536051 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011172.1 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
XM_017011173.1 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
NM_002944 | chr6:g.117389494C>A | c.1615G>T | p.E539* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ROS1 E539* | lung non-small cell carcinoma | predicted - sensitive | TQ-B3139 | Case Reports/Case Series | Actionable | In a Phase I trial, TQ-B3139 (CT-711) treatment demonstrated safety and resulted in an overall response rate (ORR) of 61.9% (39/63), intracranial ORR of 70% (7/10), disease control rate of 84.1% (53/63), and median progression-free survival (mPFS) of 19.0 mo in non-small cell lung cancer patients harboring an ALK or ROS1 fusion, with longer mPFS in TKI-naive patients (25.2 mo vs 5.4 mo), and an ORR of 66.7% (2/3), including 1 complete response, in patients with ROS1 fusions (PMID: 35940055; NCT03099330). | 35940055 |