^
Association details:
Biomarker:JAK1 Q503*
Cancer:Melanoma
Drug:Keytruda (pembrolizumab) (PD1 inhibitor)
Direction:Resistant
Evidence:
Evidence Level:
Resistant: C4 – Case Studies
New
Title:

Mutations Associated with Acquired Resistance to PD-1 Blockade in Melanoma

Excerpt:
In the relapse biopsy samples from both patients, we identified new homozygous loss-of-function mutations in the kinases associated with the interferon-receptor pathway, with a Q503* nonsense mutation in the gene encoding Janus kinase 1 (JAK1) in Patient 1 (Fig. 2A and 2B) and a F547 splice-site mutation in the gene encoding Janus kinase 2 (JAK2) in Patient 2 (Fig. S4 in the Supplementary Appendix).
DOI:
10.1056/NEJMoa1604958