Cited by 1.5kOpen Access
The University of Sydney
ORCID: 0000-0002-2556-2005Publishes on Cutaneous Melanoma Detection and Management, Melanoma and MAPK Pathways, Cancer Genomics and Diagnostics. 261 papers and 51.4k citations.
Add your photo, update your bio, and get notified when your ranking changes.
To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report that mutational signature analysis reveals a subset of tumors, mostly subungual, with an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1. Mutations and amplification of KIT are also common. Structural rearrangement and copy number signatures show that whole genome duplication, aneuploidy and complex rearrangements are common. Complex rearrangements occur recurrently and are associated with amplification of TERT, CDK4, MDM2, CCND1, PAK1 and GAB2, indicating potential therapeutic options.