Heritable mutations significantly impact cancer risk

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Hospitals increasingly experiment with broad DNA sequencing of tumor cells, a fishing expedition of sorts to try to pinpoint a cancer’s genetic flaws and guide treatment. Until recently, however, they rarely did the same for DNA in other tissues, such as skin cells, which might reveal cancer-causing mutations that the patient was born with. There were a few reasons: Those mutations are exceedingly rare, the thinking went, and it would be easy to identify patients whom sequencing might help based on their form of cancer.

Those suppositions are slowly being called into question—at least when it comes to children. In the last several years more than 2000 youngsters with cancer, from infants to young adults, have had the DNA in their noncancerous cells run through sequencing machines. The readouts are casting tantalizing clues across the pediatric cancer world, and changing how doctors think of the disease.

Unlike an adult, who may have spent decades accumulating genetic abnormalities and suffering the effects of poor diet, smoking, and other environmental factors, a 3-year-old with cancer presents a conundrum. “Up until 5 or 6 years ago, many, many people thought [such cancers] were just mistakes of nature,” says John Maris, a pediatric oncologist at The Children’s Hospital of Philadelphia (CHOP) in Pennsylvania. Yet others, including Maris, had long suspected that inherited mutations might play a considerable role.

Read full, original post: A cancer legacy

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