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Scientists Map Melanoma's Genome
Date:5/9/2012

By Barbara Bronson Gray
HealthDay Reporter

WEDNESDAY, May 9 (HealthDay News) -- Researchers have completed the first genome sequencing of melanoma, an aggressive and frequently fatal form of skin cancer.

Understanding the genomic landscape that contributes to melanoma development could provide new insight into tumor biology and therapeutic resistance, the study authors said. They believe the discoveries may spur the development of new treatments for melanoma, which will likely kill more than 9,000 people in the United States this year, according to cancer experts.

In a study published online May 9 in the journal Nature, the scientists describe sequencing 25 human metastatic melanomas -- cancers that have spread -- and finding a common thread between melanomas and breast cancer, plus evidence that the rate of mutation in melanoma varies with the level of ultraviolet light.

The authors found PREX2, a gene associated with breast cancer, in about 14 percent of the melanoma tumors. "This is a light-bulb moment in research," said study author Dr. Lynda Chin, chairman of the Department of Genomic Medicine at the University of Texas MD Anderson Cancer Center in Houston. Potentially, this could change "the paradigm of how we understand what is happening in cancer," she added.

The research showed that PREX2 starts directing cancerous activity when genetic mutations change or turn off cell functions. Other mutations also were identified for the first time in the studied tumors.

The next challenge will be to understand how the PREX2 gene makes a melanoma tumor grow, Chin said. "PREX2 is a large gene, and we're not sure what aspects are critical to cancer development. We have the 'what' but now we need the 'why' and the 'how.'"

Their study also helps lay the groundwork for a new definition of cancer that includes the genetic makeup of a tumor as well as the specific organ site.

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