BALTIMORE, June 4, 2025

Early Cancer Detection Breakthrough

Scientists have discovered a way to detect cancer-derived mutations in the bloodstream years before a diagnosis, perhaps revolutionizing treatment.

  • Tumor-derived genetic material can be detected in the bloodstream up to three years before a cancer diagnosis.
  • The findings offer potential for earlier intervention and more curable treatment options.
  • The study highlights the promise of multi-cancer early detection (MCED) tests.

Can cancer be detected years before symptoms appear? According to a recent study, the answer is a resounding yes. Researchers have found that genetic material from tumors can be detected in the bloodstream up to three years before a cancer diagnosis, opening doors to earlier intervention and improved patient outcomes.

Did you know?-The ARIC study, which provided the blood samples, has been tracking participants for decades, gathering data on heart disease risk factors. This long-term data is invaluable for cancer research.

Lead study author Yuxuan Wang, an assistant professor of oncology at the Johns Hopkins University School of Medicine, expressed surprise at the ability to detect cancer-derived mutations so early. “Three years earlier provides time for intervention. The tumors are likely to be much less advanced and more likely to be curable,” Wang said.

The ARIC Study’s Role

The research team, including Wang and colleagues, analyzed plasma samples from the Atherosclerosis Risk in Communities (ARIC) study.This large study, funded by the National Institutes of Health, investigates risk factors for various cardiovascular diseases.

Pro tip:-MCED tests analyze multiple biomarkers, such as circulating tumor DNA, to detect various cancer types concurrently. This approach could improve early detection rates.

Highly accurate and sensitive sequencing techniques were used to examine blood samples. These samples came from 26 participants in the ARIC study who were diagnosed with cancer within six months of sample collection. They also analyzed samples from 26 similar participants who did not receive a cancer diagnosis.

MCED Test Insights

The study revealed that eight of the 52 participants tested positive on a multicancer early detection (MCED) laboratory test at the time of blood sample collection. All eight individuals received a cancer diagnosis within four months of the blood draw. For six of the eight individuals, researchers were able to assess additional blood samples collected 3.1-3.5 years before diagnosis. In four of these cases, tumor-derived mutations were identified in samples taken at the earlier timepoint.

Reader question:-If an MCED test detects cancer early, what are the next steps? Further imaging and biopsies are often needed to confirm the diagnosis and determine the cancer’s stage.

Bert Vogelstein, professor of oncology, co-director of the ludwig Center at Johns Hopkins, and a senior author on the study, noted the significance of these findings. “This study shows the promise of MCED tests in detecting cancers very early, and sets the benchmark sensitivities required for their success.”

Nickolas Papadopoulos, professor of oncology, Ludwig Center investigator, and senior author of the study, added, “Detecting cancers years before their clinical diagnosis could help provide management with a more favorable outcome. Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers.”

The study is published in Cancer Discovery.

Support for the study came in part from the National Institutes of Health. Additional funding was provided by the Virginia and D.K. Ludwig Fund for Cancer Research, the Commonwealth Fund, the Thomas M Hohman Memorial Cancer Research Fund, The Sol Goldman Sequencing Facility at Johns Hopkins, The Conrad R. Hilton Foundation, the Benjamin Baker Endowment, Swim Across America, Burroughs Wellcome Career Award for Medical Scientists, Conquer Cancer-Fred J. Ansfield, MD, Endowed Young Investigator Award, and The V Foundation for Cancer Research. The Atherosclerosis Risk in Communities study has been funded in whole or in part with federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, Department of Health and Human Services.