NIH R01 · 2024
The Genetics of Ocular Melanoma
PROJECT SUMMARY/ABSTRACT Uveal melanoma (UM) is the second most common form of melanoma and the most common primary cancer of the eye, resulting not only in vision loss, but in metastatic death in up to half of patients. There are no effective treatment options once the tumor metastasizes and patients usually die within a few months of diagnosis despite systemic therapy. UMs harbor activating oncogenic mutations in GNAQ, GNA11 or CYSLTR2 that occur early in tumor formation and that are unrelated to metastatic risk. We showed that over 80% of class 2 UMs harbor loss of function mutations of BAP1 and that recurrent mutations altering R625 of SF3B1 are found in tumors with slower rates of…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.