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Science
Ryan Layer, Assistant Professor of Computer Science, University of Colorado Boulder

Genetic mutations can be benign or cancerous – a new method to differentiate between them could lead to better treatments

Identifying the difference between normal genetic variation and disease-causing mutations can sometimes be difficult. Andrii Yalanskyi/iStock via Getty Images Plus

Most of the roughly 40 trillion cells of your body have nearly identical copies of your genome – the DNA inherited from your parents, containing instructions for everything from converting food to energy to fighting off infections. Healthy cells become cancerous through harmful mutations in the genome. If a cell’s genome is damaged by ultraviolet light, for example, it can result in mutations that tell the cell to grow uncontrollably and form a tumor.

Identifying the genetic changes that cause healthy cells to become malignant can help doctors select therapies that specifically target the tumor. For example, about 25% of breast cancers are HER2-positive, meaning the cells in this type of tumor have mutations that cause them to produce more of a protein called HER2 that helps them grow. Treatments that specifically target HER2 have dramatically increased survival rates for this type of breast cancer.

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