Melanoma study with WXS data on dbGaP (30 participants)

phs003906 — Targeting EGFR in NF1 Mutant Melanoma

<p>Our study focused on melanoma patients with driver mutations in the <a href="https://www.ncbi.nlm.nih.gov/gene/4763">neurofibromin 1 (NF1)</a> tumor suppressor gene, a subset of melanoma patients that have not benefitted from recent treatment advances. We have leveraged patient-derived short-term cultures (STCs) and multiomics approaches to identify molecular features that could be developed into therapies for NF1 mutant melanoma patients. Our studies revealed that the <a href="https://www.ncbi.nlm.nih.gov/gene/1956">epidermal growth factor receptor (EGFR)</a> is highly expressed and active in NF1 mutant melanoma cells, and that genetic or pharmacological EGFR inhibition impaired tumor cell proliferation, survival, and cell growth in patient-derived NF1 mutant but not NF1 wild-type melanoma models.</p>