Researchers detected cancer-linked genetic mutations in blood samples taken over three years before diagnosis.
In a groundbreaking new study, scientists have discovered that tiny fragments of genetic material shed by tumors can be found in the bloodstream as early as three years before a person is diagnosed with cancer.
This discovery comes from a team of researchers at Johns Hopkins, including experts from the Ludwig Center, the Kimmel Cancer Center, the School of Medicine, and the Bloomberg School of Public Health. The findings were published in the journal Cancer Discovery, with support from the National Institutes of Health.
Lead researcher Dr. Yuxuan Wang, an assistant professor of oncology at Johns Hopkins, said the team was surprised by just how early they could detect cancer-linked mutations in blood samples. “Three years earlier provides time for intervention. The tumors are likely to be much less advanced and more likely to be curable.”
To determine how early cancers could be detected prior to clinical signs or symptoms, Wang and colleagues assessed plasma samples that were collected for the Atherosclerosis Risk in Communities (ARIC) study, a large National Institutes of Health-funded study to investigate risk factors for heart attack, stroke, heart failure and other cardiovascular diseases.
Study Design and Methodology
They used highly accurate and sensitive sequencing techniques to analyze blood samples from 26 participants in the ARIC study who were diagnosed with cancer within six months after sample collection, and 26 from similar participants who were not diagnosed with cancer.
At the time of blood sample collection, eight of these 52 participants scored positively on a multicancer early detection (MCED) laboratory test. All eight were diagnosed within four months following blood collection. For six of the eight individuals, investigators were also able to assess additional blood samples collected 3.1–3.5 years prior to diagnosis, and in four of these cases, tumor-derived mutations could also be identified in samples taken at the earlier time point.
“This study shows the promise of MCED tests in detecting cancers very early, and sets the benchmark sensitivities required for their success,” says Bert Vogelstein, M.D., Clayton Professor of Oncology, co-director of the Ludwig Center at Johns Hopkins and a senior author on the study.
“Detecting cancers years before their clinical diagnosis could help provide management with a more favorable outcome,” adds Nickolas Papadopoulos, Ph.D., professor of oncology, Ludwig Center investigator, and senior author of the study. “Of course, we need to determine the appropriate clinical follow-up after a positive test for such cancers.”
Reference: “Detection of cancers three years prior to diagnosis using plasma cell-free DNA” by Yuxuan Wang, Corinne E. Joshu, Samuel D. Curtis, Christopher Douville, Vernon A. Burk, Meng Ru, Maria Popoli, Janine Ptak, Lisa Dobbyn, Natalie Silliman, Josef Coresh, Eric Boerwinkle, Anna Prizment, Chetan Bettegowda, Kenneth W. Kinzler, Nickolas Papadopoulos, Elizabeth A. Platz and Bert Vogelstein, 22 May 2025, Cancer Discovery.
DOI: 10.1158/2159-8290.CD-25-0375
The study was supported in part by National Institutes of Health grant #s R21NS113016, RA37CA230400, U01CA230691, P30 CA 06973, DRP 80057309, and U01 CA164975. 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, under contract numbers 75N92022D00001, 75N92022D00002, 75N92022D00003, 75N92022D00004, and 75N92022D00005.
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