Mayo Clinic researchers study blood test to detect multiple cancers

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Methylation-based screening offers a step forward in early detection of more than 50 types of cancer.

Researchers from Mayo Clinic Cancer Center who co-led a clinical trial of a new blood test designed to detect more than 50 types of cancer are encouraged by the results.

The test uses cell-free deoxyribonucleic acid (cfDNA) targeted methylation signals in the blood to provide a cancer signal and information about the tissue of origin. A paper outlining their findings was published in the journal Annals of Oncology.

Photo of Minetta C. Liu, M.D.
Minetta C. Liu, M.D.

"There are individuals who do not or cannot comply with existing screening recommendations, and there are many cancers for which we currently do not have a validated screening approach," said Minetta C. Liu, M.D., a medical oncologist at Mayo Clinic in Rochester, Minnesota, and lead author of the published study. "Development of a single blood test for multicancer detection should facilitate cancer diagnoses at earlier stages, before the onset of symptoms. This is expected to lead to improved survival."

Dr. Liu worked with colleagues Alan H. Bryce, M.D., at Mayo Clinic in Arizona; David D. Thiel, M.D., in Florida; and Fergus J. Couch, Ph.D., Lisa A. Boardman, M.D., Gretchen E. Glaser, M.D., Gloria M. Petersen, Ph.D., Lewis R. Roberts, M.B., Ch.B., Ph.D., and Dennis Wigle, M.D., Ph.D., in Minnesota, to develop a test to reliably detect cancer signals in the blood. They enrolled more than 1,200 of the total 6,689 participants in the multi-institutional trial, called Circulating Cell-free Genome Atlas (CCGA) Study.

Clinical information and tissue and blood specimens were collected from 2,482 study participants diagnosed with cancer and 4,207 without a diagnosis of cancer. The samples from participants with cancer represented more than 50 cancer types, including breast, colorectal, esophageal, gallbladder, bladder, gastric, ovarian, head and neck, pancreatic and lung cancers, and lymphoid leukemia and multiple myeloma.

"DNA from dying cells spills into the circulation, providing an opportunity to detect cancer-related material in the peripheral bloodstream," Dr. Liu said. "This study evaluated the performance of several next-generation DNA sequencing methods."

Based on study results, the research team selected a methylation-based DNA sequencing method for further study. Methylation is a natural process that chemically modifies DNA to regulate gene expression in cells. Methylation patterns are often markedly different in cancer cells compared with normal cells.

"Our results show that this approach to testing cell-free DNA in blood can detect more than 50 cancer types at virtually any stage of the disease, with a low false-positive rate, allowing its generalizability to broader populations," Dr. Liu said. "The high accuracy in identifying the origin of the primary cancer, in conjunction with detection of a positive cancer signal in the blood, will allow providers to efficiently direct next steps for each individual's diagnostic work-up and subsequent clinical care."

Additional validation studies and collaborative efforts are underway.

The study was funded by GRAIL Inc., a health care company based in Menlo Park, California.


This article was originally published in Forefront, Mayo Clinic Cancer Center's online magazine, which ceased publication in December 2020.