Blood Mutations May Indicate Higher Cancer Likelihood, Researchers Find

Two independent teams of researchers spanning the Broad Institute of MIT and Harvard, the Medical School, and the Harvard Stem Cell Institute have identified a precancerous state in blood that indicates a higher likelihood that an individual will develop blood cancers, according to their findings published in the New England Journal of Medicine last week.

Benjamin Ebert, an associate professor at the Medical School who led one of the research teams, said both groups studied DNA sequences in blood and focused on somatic mutations, mutations individuals acquire over time as opposed to those they inherit.

“In our study we found that individuals who have had detectable mutations in their blood have about a tenfold increased risk of developing blood cancer later in life,” Ebert said. “What we found is that these mutations in genes that lead to blood cancer are actually quite common. You can detect them in over 10 percent of people over the age of 70.”

While Ebert’s team specifically looked for mutations in genes that had already been linked to blood cancers, the other team, led by Medical School assistant professor Steven A. McCarroll, initially investigated whether somatic mutations contributed to the risk of developing schizophrenia, according to Ebert.

McCarroll said his team studied about 6,000 samples from psychiatric patients with schizophrenia or bipolar disorder and about 6,000 samples from a control group.


“In the end, the mutations that we found were present in both psychiatric patients and controlled [ones],” McCarroll said. “They don’t contribute to schizophrenia, but they definitely contribute to cancer.”

According to Ebert, this research project developed more rapidly than his prior work due to his team’s ability to leverage enormous data sets that had already been developed at the Broad Institute. Ebert said that the Broad Institute had collected blood samples from about 17,000 individuals for the purpose of researching genes that potentially lead to diabetes or cardiovascular disease, which Ebert then reused for his project on blood cancers.

Ebert said that while there is no current intervention to delay or prevent an individual from getting blood cancers, he hopes researchers will be able to develop approaches that can decrease an individual’s likelihood of developing the disease.

“Since people get this when they’re generally older, it may be possible to delay the development of a blood cancer long enough so that it doesn’t develop during the lifetime of an individual,” Ebert said.


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