Annotation Detail
Information
- Associated Genes
- BAP1
- Associated Variants
-
BAP1 MUTATION
BAP1 MUTATION - Associated Disease
- renal cell carcinoma
- Source Database
- CIViC Evidence
- Description
- This study evaluated the effects of everolimus and sunitinib on patients with metastatic renal cell carcinoma. A total of 220 patients with RCC were evaluated for 341 genes at 540x coverage. Of all 220 patients, 19% of had BAP1 mutations. Patients with BAP1 mutations treated with first line everolimus followed by sunitinib (N=87 wildtype, 22 mutant) were associated with shorter progression free survival (median [95% CI] 4.9 [2.9 - 8.1] vs 10.5 [7.3 - 12.9] mo; HR 1.84 [1.1-3.2]; P=0.02). For patients treated with sunitinib followed by everolimus (N=91 wildtype, 20 mutant) were associated with a trend towards shorter progression free survival (median [95% CI] 8.1 [3.1-11.3] vs 11.0 [8.3-13.8] mo; HR 1.69 [0.9-3.2]; P=0.06).
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/5339
- Gene URL
- https://civic.genome.wustl.edu/links/genes/70
- Variant URL
- https://civic.genome.wustl.edu/links/variants/183
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Renal Cell Carcinoma
- Evidence Direction
- Supports
- Drug
- Everolimus,Sunitinib
- Evidence Level
- B
- Clinical Significance
- Resistance
- Pubmed
- 27751729
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Everolimus | Resitance or Non-Reponse | true |
| Sunitinib | Resitance or Non-Reponse | true |