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Research Highlight: New Mutations Linked to Prostate, Breast Cancers Discovered in Human Genome's "Dark Matter"

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A vast, "dark" region of the human genetic code contains dozens of previously unknown mutations that play a role in breast and prostate cancers, according to a new study that highlights areas of the genome for scientists to parse for their significance in disease development.

The study, published in Science by researchers at Yale, the Wellcome Trust Sanger Institute and Weill Cornell Medical College, among others, underscores the significance of "dark matter" - the 98 percent of the genome that does not code for proteins. Most investigations into genetic contributions to cancer and other diseases have explored sections of the genome that are involved in protein coding, omitting the potential importance of the remainder in both health and disease development.

Dr. Mark Rubin

Mark Rubin, the Homer T. Hirst Professor of Oncology in Pathology and a co-author of the research, called it "a landmark study in starting to assign the importance of dark matter as it relates to human disease." The findings were based on analyses of over 1,000 healthy people's genomes and those of 90 breast or prostate cancer patients. The data from the healthy people came from two large analyses of the human genome, the 1,000 Genomes project and the Encyclopedia of DNA Elements (ENCODE) project. Those initiatives are collecting information about individual genomes and defining the function of various regions along the entirety of the human genome.

Though the study focused on prostate and breast cancers, "it clearly has important significance for other cancers and other diseases," said Dr. Rubin, who is also director of Weill Cornell's Institute for Precision Medicine. "Although this is preliminary, it creates a roadmap for important areas we have to investigate that hadn't been considered" in disease processes.

The mutations may eventually become the targets of drugs that would treat patients whose cancers contain the genetic alterations, he added.

"As we learn more about these types of mutations, we imagine therapies may be developed around targeting them in the future," Dr. Rubin said.

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