Annotation Detail
Information
- Associated Genes
- PREX2
- Associated Variants
-
PREX2 R172I
PREX2 R172I - Associated Disease
- melanoma
- Source Database
- CIViC Evidence
- Description
- In a retrospective study of 44 relapsed melanoma patients harboring BRAF V600E/K (known BRAF inhibitor sensitizing mutations), PREX2 R172I was associated with a case of acquired resistance to BRAF inhibitor (vemurafenib) monotherapy in one patient. This patient was an 83 year old male with stage IV M1c melanoma who took vemurafenib (960mg twice daily). The best overall response was a 5% increase in sum of target lesions, and progression free survival lasted 132 days. Prior to vemurafenib monotherapy, this patient harbored BRAF V600K and no other somatic genetic alterations noted in the baseline tumor. Following relapse, the patient gained PREX2 R172I in one of two disease progressive tumors. Whole exome sequencing and Sanger re-sequencing were used for all tumors. The authors indicated that the biology behind this potential resistance mutation was unknown.
- Variant Origin
- somatic
- Variant Origin
- Somatic
- Evidence URL
- https://civic.genome.wustl.edu/links/evidence_items/6268
- Gene URL
- https://civic.genome.wustl.edu/links/genes/15344
- Variant URL
- https://civic.genome.wustl.edu/links/variants/2364
- Rating
- 4
- Evidence Type
- Predictive
- Disease
- Melanoma
- Evidence Direction
- Supports
- Drug
- Vemurafenib
- Evidence Level
- C
- Clinical Significance
- Resistance
- Pubmed
- 24265155
Drugs
| Drug Name | Sensitivity | Supported |
|---|---|---|
| Vemurafenib | Resitance or Non-Reponse | true |