University of California researchers have mapped the genetic composition of melanoma, identifying crucial mutational hotspots responsible for cancer development.
In the study “Cancer systems biology of TCGA SKCM: Efficient detection of genomic drivers in melanoma,” published in Scientific Reports, Professor Fabian V. Filipp and his team experimentally confirmed key drivers of melanoma and identified new melanoma genes along the way.
“Now that we have the genomic landscape of melanoma, we can navigate it,” Professor Filipp said in a news release. “We can provide the maps to make it easier to identify melanoma risks, develop new therapeutic targets and create better diagnostic readouts.”
The team used next-generation sequencing data of somatic copy number alterations and mutations in a total of 303 metastatic melanomas to construct a genetic map pinpointing all networks of mutational areas that can affect cellular division in melanoma cells.
This was the biggest genomic analysis in melanoma so far, and has the potential to uncover novel methods to help researchers understand the biological phenomena behind melanoma.
“Systems biology has a major impact on how we view cancer today,” Professor Filipp added. “An important step was to employ a rigorous filter that separates millions of random molecular events from those events that drive cancer.”
This study, conducted within the framework of The Cancer Genome Atlas (TCGA), revealed that in roughly 50% of melanoma patients, the signaling pathway of proto-oncogene BRAF is hyperactive, leading to abnormal cellular division and ultimately resulting in cancer growth and aggressiveness.
Professor Filipp who was recently awarded with the prestigious Thomas B. Fitzpatrick Medal, focuses his research on melanoma and cancer metabolism. “Professor Filipp exemplifies the innovative ways in which UC Merced researchers approach issues of local, national and global significance,” Vice Chancellor for Research and Economic Development Sam Traina stated in the news release. “We are proud to see that his outstanding work is being recognized.”
As the authors conclude in their study, ”the systems biology integration of genomic alterations in melanoma provides a glimpse into how a spectrum of genomic aberrations contributes to melanoma genesis and progression. Identification of such genomic aberrations in melanoma patients contributes to new treatment regimens based on molecular understanding of driver events that govern this malignancy”.
