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Association details:
| Biomarker: | MBD4 mutation |
|---|---|
| Cancer: | Uveal Melanoma |
| Drug: | Keytruda (pembrolizumab) (PD1 inhibitor) |
| Direction: | Sensitive |
Evidence:
Source:
Title:
Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors
Excerpt:
Here we present a metastatic uveal melanoma patient with an exceptional high sensitivity to a PD-1 inhibitor associated with outlier CpG>TpG mutation burden, MBD4 germline deleterious mutation, and somatic MBD4 inactivation in the tumor….the MBD4-related high mutation load probably contributed to the dramatic response in the UVM_IC patient.
DOI:
10.1038/s41467-018-04322-5
