The complete genome sequencing of melanoma confirms that exposure to ultraviolet rays increases the number of mutations that cause disease and reveals a new gene linked to it, reports the journal Nature.
Melanoma, an aggressive and lethal skin cancer, has an increasing incidence in the world, as each year is multiplied by ten the number of people affected.
“Our study provides the first view in high resolution genetic map of a set of metastatic melanomas and demonstrates the role of ultraviolet radiation to produce mutations associated with these tumors,” explains in his article Levi Garraway, the principal investigator of the study.
His team, comprising scientists from the universities of Harvard and MIT (USA), sequenced the complete genome of twenty-five metastatic melanomas-those who already have spread to other body part, and measured the number of gene mutations in patients with different levels Exposure to ultraviolet rays.
The highest percentage was documented in a patient with melanoma with chronic sun exposure, whereas it was intermediate between patients who had received ultraviolet rays on the trunk and extremities and lower among those who had only taken on his arms and legs .
In addition to this conclusion, the researchers identified a set of recurrent genetic mutations that were not previously linked to melanoma and particularly affecting gene called PREX2.
The scientists studied this gene in 107 human melanomas separately and concluded that altered their DNA in 14% of them.
Previous studies have linked mutations in this gene with the occurrence of breast cancer, but this is the first time is linked to melanoma.
Although their role in skin cancer is not yet determined, Garraway team believes it could be responsible for accelerating tumor formation.
The investigation also revealed a “large number” of mutations affecting other genes besides the PREX2, said Garraway, and form a “spectrum of genetic aberrations.”
Discover the role of these mutations in the emergence and development of melanoma allow further progress in understanding the biology of tumors and the search for treatments that are urgently needed, he concluded Garraway.