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Cancer variants found in ‘neglected’ region of genome

Mutations outside of genes associated with disease

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2:01pm, October 3, 2013

Parts of human DNA that do not contain genes but instead turn them on and off may be just as vulnerable to cancer-causing mutations as protein-producing genes are, 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

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