(Wednesday, 9 may HealthDay News), researchers have completed the first sequencing of the genome of melanoma, an aggressive and often deadly form of skin cancer.
Understand the landscape of genomics which contributes to the development of melanoma can provide the new overview of the tumor biology and therapeutic resistance, the authors of the study say. They believe that discoveries can stimulate the development of new treatments for melanoma, which are likely to kill more than 9 000 people in the United States this year, according to cancer experts.
In a study published online on May 9 in the journal Nature, the scientists describe 25 sequencing human metastatic melanoma - cancers that have spread - and find a common denominator between melanoma and breast cancer, and the rate of mutation in melanoma varies with the level of ultraviolet light.
The authors found PREX2, a gene associated with breast cancer, about 14% of tumors of melanoma. "This is a moment of light bulbs in research," said Dr. Lynda Chin, Chairman of the Department of genomic medicine of the University of Texas MD Anderson Cancer Center in Houston author of the study. Potentially, this could change "the paradigm of the way in which we understand what is happening in cancer", she added.
Research has shown that PREX2 begins to lead the cancerous activity in genetic mutations, modify or disable cellular functions. Also other mutations have been identified for the first time in studied tumors.
The next challenge will be to understand how the PREX2 gene is a melanoma tumor grow, said Chin. "PREX2 is a large gene, and we're not sure what aspects are essential for the development of cancer." We have the "what", but now we have the "why" and the "how". »
Their study also helps to lay the groundwork for a new definition of cancer which includes the genetic tumor constitution, but also the site of the specific organ.
These features will also lead the development of future cancer treatment, said Chin. "this adds another layer of how we approach the cancer.". "Tell, tell me first, the genetic composition of the tumour and tell me then, origin of the tumour," she said.
Cancers are now described by a system based solely on the location of a tumor and its microscopic anatomy. Chin, said the research shows how genetic information adds a new element that can help to understand and classify tumors with greater precision.
The authors have also learned that the mutation rate is higher in persons with chronic sun exposure. This is another evidence that the development of the disease is related to ultraviolet light.
United States, melanoma has increased over the past three decades. It is one of the most common cancers in young people, and more than 76 000 new cases will be diagnosed through all age groups this year, according to the American Cancer Society.
While the study has discovered new important information, Chin warned that the Melanoma genome is very complex. For example, researchers have seen what she described as a large number of "structural rearrangement" on the genome. It is unclear what this means.
"It's like a bomb s gone off and all in the wrong order," she said. "And we are not sure how to put all together."
Dr. Darrell Rigel, Clinical Professor of Dermatology at the New York University Medical Center, said that it was interesting that the researchers found a breast cancer gene in melanoma tumor. "Regroup us melanoma as a type of cancer now, but in five to ten years, we are likely to see too many types of cancer," said.
Rigel also said that he was encouraged that researchers have found another potential target for drug therapy.
More information
Learn more about melanoma to the American Cancer Society.
SOURCES: Lynda Chin, M.D., Chairman, Department of genomic medicine, University of Texas MD Anderson Cancer Center, Houston; Darrell Rigel, M.D., Clinical Professor, dermatology, New York University Medical Center; 9 May 2012, Nature, online
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