Magazine article Science News

Cancer Mutations Found outside Genes: Genetic Variants in Noncoding DNA Associated with Disease

Magazine article Science News

Cancer Mutations Found outside Genes: Genetic Variants in Noncoding DNA Associated with Disease

Article excerpt

Parts of human DNA that do not contain genes but instead turn genes on and off may play an important role in causing cancer, a new study finds.

Using computer programs to comb through the DNA of 88 cancer patients, researchers identified 98 mutations in gene-regulating parts of the genome that may be causing the patients' breast, prostate or brain tumors, the team reports in the Oct. 4 Science.

The findings may help researchers better understand which genetic alterations lead to disease and which are harmless. "It helps to clarify a confusing question in human variation: What variants are important?" says Douglas Levine, a surgeon at Memorial Sloan-Kettering Cancer Center in New York City who was not involved with the work.

Finding one or a handful of variants that lead to disease is a daunting task because it requires sorting through more than 3 billion bases - the information-carrying chemicals that make up DNA--in each person. As a result, many scientists have narrowed their search to the 1 to 2 percent of the genome that contains protein-producing genes.

But many genetic variants implicated in common conditions such as diabetes and heart disease fall in the no-protein land between genes. Rare disease-causing mutations, such as those that spark cancer, may also fall in that vast, mysterious territory known as noncoding DNA.

"When it comes to cancer, those regions have been neglected so far," says Jan Korbel, a geneticist at the European Molecular Biology Laboratory in Heidelberg, Germany. Cancer researchers didn't have enough data to allow a search, says Korbel, who was not involved in the research. "This study shows how you can find these candidates."

To narrow down which noncoding parts probably contain important variants, Yale computational biologist Ekta Khurana and her colleagues examined DNA from 1,092 volunteers in the 1,000 Genomes Project, an effort to uncover human genetic variation. …

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