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Association details:
| Biomarker: | MBD4 L563T |
|---|---|
| Cancer: | Uveal Melanoma |
| Drug: | Keytruda (pembrolizumab) (PD1 inhibitor) + Yervoy (ipilimumab) (CTLA4 inhibitor) |
| Direction: | Sensitive |
Evidence:
Source:
Title:
Prolonged stable disease in a uveal melanoma patient with germline MBD4 nonsense mutation treated with pembrolizumab and ipilimumab
Excerpt:
Here, we report on another UM patient who carried an MBD4 germline nonsense variant (p.Leu563Ter)...We confirmed the association between germline loss-of-function variant in MBD4 and CI response. The patient experienced stable disease (10 months) and survived 2 years with metastatic disease, which is twice as long as median survival.
DOI:
10.1007/s00251-019-01108-x
