Skip to content

Whole-exome sequencing of melanoma completed


Last year in the United States, there were an estimate 68,130 new cases of melanoma and the disease resulted in approximately 8,700 deaths. Findings published online today in Nature Genetics offer a comprehensive view of melanoma's genetic landscape and may improve researchers understanding of what causes the disease.

In the study, researchers used whole-exome sequencing, an approach that decodes the one to two percent of the genome that contains protein-coding genes, to examine the melanoma genome's functional components and gene alterations. The analysis was completed using 14 metastatic melanoma tumor samples and matching blood samples from a collection maintained at the National Cancer Institute. The results yield some surprising, albeit slightly technical, discoveries, according to an NIH release:

Mutations in one particular gene, known as TRRAP, emerged as remarkable for occurring at the exact position in six separate individuals with melanoma. TRRAP harbors a recurrent mutation clustered in one position along the string of DNA code in about 4 percent of cases.

"These data suggest that TRRAP is a driver and probably an oncogene," said [senior author Yardena Samuels, PhD]. Oncogenes are cancer-causing genes that enable the cell to survive despite stressful conditions, rather than die off normally. "This was one of the most important discoveries in the study since we never expected to identify novel hot-spot mutations," she said.

You can learn more about the various types of skin cancer, how to protect yourself against skin cancer and why middle-age and older men may need to step up their skin cancer prevention efforts in a 1:2:1 podcast with Susan Swetter, MD, director of the Pigmented Lesion and Cutaneous Melanoma Clinic at the Stanford Cancer Center.

Previously: Intense, rapid sun tanning may increase skin cancer risk and California cities score below 50th percentile on 'sun-smart' survey
Photo by Human Genome Research Institute

Popular posts