Mutations outside of genes associated with disease
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