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Promise and Progress - Epigenetic Blood Test for Breast Cancer

Reprogramming Cancer Cells - The Story of Epigenetics
Issue No. 1

Epigenetic Blood Test for Breast Cancer

Date: July 16, 2014


A new blood test detects advanced breast cancer and could also be use to monitor the effectiveness of treatments.  Saraswati Sukumar, Ph.D., Co-Director of the Breast Cancer Program, her research associate Mary Jo Fackler, Ph.D., and team developed the test, called cMethDNA assay, to detect 10 genes altered in breast cancer.  Specifically it finds increased methylation of any of these breast-cancer specific genes in circulating tumor DNA found in the blood.

In a study of 52 women, half with recurrent, late-stage breast cancer and half who did not have breast cancer, the test was 95 percent accurate in distinguishing the breast cancer patients from the healthy women.  The findings were tested against 60 blood samples from the general population and confirmed.

Dr. Sukumar and team also examined the test’s ability to measure treatment response in an additional study of 58 blood samples.  The test successfully detected a decrease in DNA methylation in the blood from patients with stable disease or who had responded to treatment.  Conversely, it found no decreased methylation in patients whose breast cancers did not respond to treatment.  

“Our assay shows great potential for development as a clinical laboratory test for monitoring therapy and disease progression and recurrence,” says Dr. Sukumar, the Barbara B. Rubenstein Professor of Oncology.  “If it’s determined early that a treatment is not working, clinicians can save time and switch to a different therapy.”  The team says the test may also detect recurrent lung and colorectal cancers.

The research was supported by the Avon Foundation for Research, the Rubenstein family, the John A. Sellon Charitable Trust, the Department of Defense Center of Excellence on “Targeting Metastatic Breast Cancer,” Avon/National Cancer Institute  grant CA 006973-41S, the Susan G. Komen for the Cure, the Breast Cancer Research Foundation, and the National Institutes of Health’s National Cancer Institute grant CA 006973.

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