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Association details:
Biomarker:MBD4 mutation
Cancer:Uveal Melanoma
Drug:Keytruda (pembrolizumab) (PD1 inhibitor)
Direction:Sensitive
Evidence:
Evidence Level:
Sensitive: C4 – Case Studies
New
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