Utah cancer researchers are hoping to detect breast cancer earlier through a blood test that could complement yearly mammograms.
In a newly launched study, radiologists and oncologists with Intermountain Healthcare aim to discover whether screening patients for tumor DNA in their blood can successfully identify breast cancer. Researchers believe the study could produce a test that detects cancer sooner in some patients, improving both how the disease is diagnosed and resulting health outcomes.
“We want to find these tumors before they become a problem,” Brett Parkinson, imaging and medical director of the Intermountain Medical Center Breast Care Center, said Monday in announcing the study.
Identifying genetic markers for breast cancer through a blood sample could help diagnose cancer in instances when a tumor is not visible through a mammogram, Parkinson said, or when a patient is hesitant to undergo the X-ray screenings.
For nearly 40 years, mammography has been the most effective means of early detection for breast cancer, said Parkinson, also one of the study’s lead researchers. But between 10 percent and 30 percent of cancers can be missed in mammography imaging for women with denser breast tissue, he said, especially those younger than 50. And some can be reticent to get the test.
In 2014, about 65 percent of Utah women ages 40 and older had a mammogram in the previous two years, state health data showed. Nationally, about 72 percent of women received a mammogram in the same time frame.
Researchers will compare blood samples from women receiving those yearly mammograms against patients who currently have breast cancer. They will search for pieces of tumor DNA that are released into the bloodstream and see if detecting those DNA fragments correlates with a diagnosis.
Women older than 20 and in good health who receive their screenings and care through Intermountain will be asked to participate in the study, Parkinson said. Researchers expect the research to take a minimum of three years and hope to screen thousands of patients, starting with 200 by January and at least another 400 the end of 2018.
Patients in the screening group will receive a 3-D mammogram and have their blood drawn once before and after their screening. Their samples will be analyzed at the Intermountain Precision Genomics Program’s laboratories in St. George to identify the tumor DNA, Parkinson said, and receive further scrutiny by researchers at Stanford University’s Genome Center to help develop a screening test.
The study will be largely funded by a donation from the St. George-based Beesley Family Foundation.
Even if the screen test is developed, blood samples won’t eliminate the need for a mammogram, said Lincoln Nadauld, executive director of Intermountain’s genomic program. Imaging is needed to find the tumor, which is critical to treatment strategies.
Although researchers hope they can create a blood test to identify breast cancer, Nadauld said, it is also likely that their work could identify mutations that aren’t necessarily unique to that form of cancer.
“Sometimes [DNA markers] are the same whether it’s a breast cancer or a colon cancer,” he said. “That’s part of what this trial is going to accomplish. We want to determine the signature for early breast cancer.”
A blood test could also potentially be used to monitor survivors for recurrence, Nadauld added, and could be developed into tests for other types of cancer.
“We don’t know what we will find exactly,” Parkinson said, “But whatever we do find will be meaningful.”
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