HealthCancer ResearchCancer Mutations Found in Blood Years Before Diagnosis

Cancer Mutations Found in Blood Years Before Diagnosis

A new breakthrough reveals cancer’s genetic fingerprints can be detected in the bloodstream up to three years before diagnosis—offering a revolutionary window for early treatment.

Key Points at a Glance
  • Tumor DNA mutations were found in blood samples over three years before clinical diagnosis
  • Study involved samples from the NIH-funded Atherosclerosis Risk in Communities study
  • Findings demonstrate the potential of multicancer early detection (MCED) blood tests
  • Discovery could change cancer treatment timelines and improve survival rates

Cancer often creeps in silently—until symptoms finally push people to the doctor’s office. But new research from Johns Hopkins University may change this grim timeline. In a game-changing study published in Cancer Discovery, scientists detected cancer-linked DNA in patients’ bloodstreams more than three years before diagnosis. The implications for early intervention and survival are staggering.

Led by Dr. Yuxuan Wang, the team analyzed blood samples from the massive NIH-funded ARIC study, which originally investigated cardiovascular health. By repurposing these samples with cutting-edge sequencing tools, they identified tumor-derived mutations in participants who later developed cancer—even before the disease revealed itself through traditional symptoms.

“We were shocked to find cancer signals that far in advance,” said Wang. “It means we may be able to act when the disease is still silent and more curable.”

Of 52 participants tested, eight showed a positive signal on a multicancer early detection (MCED) test just months before diagnosis. In four of these individuals, further analysis of archived blood from more than three years earlier also showed clear signs of cancer mutations. This means that even when no physical signs were apparent, the disease had already begun whispering its presence into the bloodstream.

Dr. Bert Vogelstein, senior author and renowned cancer researcher at the Ludwig Center, called the results “a benchmark for future detection technologies.” He emphasized that while more research is needed to guide clinical responses after a positive test, the door has now been opened for catching cancer in its embryonic stages.

This kind of detection relies on analyzing circulating tumor DNA—fragments shed by cancer cells into the bloodstream. The MCED tests represent a new frontier in cancer diagnostics, capable of screening for multiple cancers simultaneously from a single vial of blood.

Dr. Nickolas Papadopoulos added: “This discovery reinforces the urgent need to refine and deploy these tests widely. Early detection can shift the entire trajectory of cancer treatment.”

Experts caution that the next challenge is clinical protocol—what to do with a positive test long before imaging or biopsies can confirm cancer. But as the technology matures, so will the systems needed to act on these ultra-early warnings.

For now, this discovery paints a hopeful picture: a future where deadly cancers are caught not in their final act, but in their quiet opening scene—long before they take the stage.


Source: Johns Hopkins Medicine

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Sophia Hayes
Sophia Hayes
An empathetic editor with a passion for health and technology. Blends data precision with care for the reader.

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