-- Robert Preidt
FRIDAY, April 15 (HealthDay News) -- U.S. scientists who
completed the world's first "whole-exome sequencing" of melanoma
say their accomplishment will improve the ability to diagnose and
treat the deadliest form of skin cancer.
Whole-exome sequencing is an approach that decodes the 1 to 2
percent of the genome that contains protein-coding genes.
The team, led by researchers at the U.S. National Institutes of
Health (NIH), conducted a thorough analysis of the melanoma genome
and its functional components, especially gene mutations. They
focused on advanced melanoma (the metastatic stage) when cancer
cells have the highest number of gene mutations.
"Melanoma is one of the most challenging solid cancers to work with because it has such a high rate of mutation. Whole-exome sequencing will help us identify the most important [mutations]," study senior author Yardena Samuels, an investigator in the Cancer Genetics Branch, National Human Genome Research Institute, said in an NIH news release.
The researchers made a number of surprising discoveries. For
example, they found that mutations in a gene called TRRAP occurred
in the exact position in six separate patients with melanoma. In
about 4 percent of melanoma cases, TRRAP has a recurrent mutation
in one position along the string of DNA code.
"These data suggest that TRRAP is a driver and probably an oncogene," Samuels said in the news release. An oncogene is a cancer-causing gene.
"This was one of the most important discoveries in the study since we never expected to identify novel hot-spot mutations," she added.
The study is published in the April 15 online edition of the
In the United States, the incidence of melanoma is increasing
faster than any other cancer. A major cause of melanoma is believed
to be overexposure to the sun, particularly ultraviolet radiation,
which can damage DNA and trigger cancer-causing genetic changes in
The American Academy of Family Physicians has more about
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