New test also predicts cancer recurrence with 81% accuracy, outperforming conventional tissue biopsies.
By Shula Rosen
Israeli researchers have developed a blood test that detected early-stage breast cancer with 95% accuracy and identified patients at greater risk of recurrence, potentially improving diagnosis and treatment decisions.
The test, developed by scientists at the Weizmann Institute of Science and the Hebrew University of Jerusalem, examines molecular changes associated with cancer rather than relying solely on genetic mutations. The findings were published Nov. 11 in the journal Nature.
Led by Prof. Efrat Shema of Weizmann and Prof. Guy Ron of Hebrew University, the research involved physicians at Kaplan Medical Center in Rehovot.
Scientists analyzed blood samples from 77 breast cancer patients monitored for at least five years at the Mayo Clinic in Florida and 30 healthy women.
Artificial intelligence models distinguished early-stage cancer, including tumors measuring no more than two centimeters, with 95% accuracy.
Additional testing involving 188 patient samples, supported by Sheba and Kaplan medical centers, demonstrated similarly strong results across different breast cancer types and breast densities.
Unlike conventional methods, the technology identifies epigenetic markers, chemical modifications that regulate gene activity without changing DNA sequences. Researchers examined these markers on nucleosomes, DNA-protein structures released into the bloodstream when cells die.
The investigation also uncovered small populations of highly aggressive cells within tumors otherwise considered less dangerous.
“When we looked for their epigenetic signature in blood samples, we found that the more prevalent it was, the greater the risk that the disease would come back,” Ron said.
Combining these signatures with other markers enabled researchers to distinguish patients who experienced recurrence from those who remained cancer-free with 81% accuracy, outperforming conventional tissue biopsies in recurrence-risk assessment.
The findings could be particularly relevant for patients whose tumors appear low risk under existing diagnostic methods.
“Breast cancer screening saves lives,” Shema said, noting that regular mammograms reduce breast cancer mortality by 22%.
The researchers are now investigating treatments targeting the epigenetic flexibility that allows cancer cells to become more aggressive and evade therapy.
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