Annotation Detail

Information

Associated Genes: DNMT3A
Associated Variants: DNMT3A MUTATION
DNMT3A MUTATION
Associated Disease: cancer
Source Database: CIViC Evidence
Description: A subset of patients receiving PD1/PD-L1 inhibition appear to be "hyper-progressors," with a greatly accelerated rate of tumor growth and clinical deterioration compared to pre-therapy. The current study investigated potential genomic markers associated with "hyper-progression". Consecutive stage IV cancer patients who received immunotherapies (CTLA-4, PD-1/PD-L1 inhibitors or other [investigational] agents) and had their tumor evaluated by next-generation sequencing Amongst 155 patients, TTF (time to treatment failure) <2 months was seen in 4/5 individuals harbouring DNMT3A alteration.
Variant Origin: somatic
Variant Origin: Somatic
Evidence URL: https://civic.genome.wustl.edu/links/evidence_items/2926
Gene URL: https://civic.genome.wustl.edu/links/genes/18
Variant URL: https://civic.genome.wustl.edu/links/variants/189
Rating: 2
Evidence Type: Predictive
Disease: Cancer
Evidence Direction: Supports
Drug: Pembrolizumab,Nivolumab,Atezolizumab
Evidence Level: B
Clinical Significance: Resistance
Pubmed: 28351930

Drugs