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Mutations Linked to Secondary Cancers

Childhood cancer survivors with mutations in certain cancer-risk genes have a higher risk of developing additional neoplasms later in life, according to research presented at the American Association for Cancer Research annual meeting.

Written byJef Akst
| 3 min read

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WIKIMEDIA, NHGRISequencing the whole genomes and exomes of more than 3,000 childhood cancer survivors, Zhaoming Wang of the St. Jude Children’s Research Hospital in Memphis, Tennessee, and colleagues identified 365 pathogenic or likely pathogenic mutations in 84 genes. In total, 12 percent of the patients studied carried one of these mutations, which pose an increased risk of secondary cancer, Wang noted in his presentation at the American Association for Cancer Research (AACR) annual meeting in Washington, DC, yesterday (April 3).

Before this study, “nothing was known about the genetic contribution [of secondary cancers],” Wang told The Scientist after his talk. With some pediatric cancer cure rates now topping 90 percent, he added, “we really need to care about not only treating their first cancer, but also [health problems] in their later life . . . including these subsequent neoplasms.”

Wang and colleagues enrolled 3,007 participants who had survived a childhood cancer for at least five years, a quarter of whom developed a secondary cancer by age 45. Sequencing the survivors’ whole genomes and exomes and comparing identified mutations to a list of 156 known cancer-risk genes, the researchers found that, in general, harboring a pathogenic or likely pathogenic mutation posed a significantly increased risk of ...

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Meet the Author

  • 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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