More Is More: Two New Studies Identify Gene Mutations in Melanoma

Large-scale sequencing of entire cancer exomes and genomes has allowed us to identify novel genes involved in tumorigenesis and to characterize the mutational process. Two recently published studies provide a clearer view of the melanoma mutational landscape. Both studies provide sweeping examinations of all coding sequences in melanoma (i.e., the exome).

Hodis and colleagues profiled a set of 15 primary melanomas, 30 metastatic melanomas, and 76 short-term melanoma cultures derived from metastatic tissue. Krauthammer et al. sequenced the exomes of 147 melanomas.

They identified novel genes (beyond NRAS, PTEN, and BRAF, already known to be mutated in melanoma): PPP6C, RAC1, SNX31, TACC1, and STK19. A mutation in RAC1 was recurrent (Pro29Ser),…