Scientists identify mutation that can predict if a person will develop blood cancer: Study

New research found scientist may be able to detect cancer risk in the blood much earlier than expected.

Researchers from the Broad Institute of MIT and Harvard, Harvard Medical School, the Harvard Stem Cell Institute (HSCI), and Harvard-affiliated hospitals have uncovered an easily detectable, "premalignant" state in the blood that significantly increases the likelihood that an individual will go on to develop blood cancers such as leukemia, lymphoma, or myelodysplastic syndrome.

DNA tests revealed carriers of the mutations have a five per cent overall risk of being diagnosed with leukaemia or lymphoma within five years.

The changes are not present at birth, but develop as a person ages.

"People often think about disease in black and white - that there's 'healthy' and there's 'disease' - but in reality most disease develops gradually over months or years," said assistant professor and senior author Steven McCarroll at Harvard Medical School.

"Cancer is the end-stage of the process," said Siddhartha Jaiswal, a Broad associated scientist and clinical fellow from Massachusetts General Hospital who was first author of Ebert's paper.

"By the time a cancer has become clinically detectable it has accumulated several mutations that have evolved over many years. What we are primarily detecting here is an early, pre-malignant stage in which the cells have acquired just one initiating mutation."

The two teams came to the same conclusion through very different routes.

In the first study, researchers investigated whether it would be possible to detect these mutations in the blood, knowing the risk of blood cancer increases with age.

They found the mutations indicated a higher risk for cancer, as well as other diseases like type 2 diabetes, heart disease and stroke - although more research needs to be done to confirm the latter findings.