Study Nearly Doubles Known Cancer-Linked Mutational Signatures

Analyzing the whole genome sequences of more than 18,000 tumors, researchers catalog nearly 60 new patterns of mutations that could inform cancer treatment.

Written byJef Akst
| 2 min read
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A massive survey of patient genomes has unveiled dozens of mutational signatures associated with various cancer types. The work, published yesterday (April 21) in Science, also includes a new tool to allow clinicians to search for such patterns of mutations in individual cancer patients, something the team argues could point to beneficial therapies.

“The reason it is important to identify mutational signatures is because they are like fingerprints at a crime scene—they help to pinpoint cancer culprits,” University of Cambridge genomicist and bioinformatician Serena Nik-Zainal, an honorary consultant in clinical genetics at Cambridge University Hospitals, tells The Guardian. For example, certain signatures point to tobacco smoking or exposure to ultraviolet radiation as the causative mutagens. “Some mutational signatures have clinical or treatment implications—they can highlight abnormalities that may be targeted with specific drugs or may indicate a potential ‘achilles heel’ in individual cancers,” Nik-Zainal says.

“We can really begin to ...

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  • Jef (an unusual nickname for Jennifer) got her master’s degree from Indiana University in April 2009 studying the mating behavior of seahorses. After four years of diving off the Gulf Coast of Tampa and performing behavioral experiments at the Tennessee Aquarium in Chattanooga, she left research to pursue a career in science writing. As The Scientist's managing editor, Jef edited features and oversaw the production of the TS Digest and quarterly print magazine. In 2022, her feature on uterus transplantation earned first place in the trade category of the Awards for Excellence in Health Care Journalism. She is a member of the National Association of Science Writers.

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