IU School of Medicine researcher develops non-invasive tool to detect mutations that could potentially lead to breast cancer

Bri Heron, technology marketing manager at Indiana University’s Innovation and Commercialization Office, contributed the following story.

A non-invasive diagnostic test to detect mutations that could lead to early-stage breast cancer has been developed by Indiana University researcher Harikrishna Nakshatri, Marian J. Morrison Professor of Breast Cancer Research and professor of surgery, biochemistry and molecular biology at the IU School of Medicine.

Studies have shown early detection results in better survival and less treatment for breast cancer. But the most common method of early detection is screening mammography, and it is not perfect, especially for women with dense breasts. Additional imaging such as a screening ultrasound and breast MRI can identify cancers not seen on mammograms in some patients, but IU researchers are looking for non-invasive tests (assays) to detect cancer cells before women develop symptoms or if changes are identified on mammogram.

“Breast cancer originates from specific cells within the breast due to gene mutations. The number of mutations increases as the cancer progresses and metastasizes to other organs,” said Nakshatri. “To achieve maximum response to treatment, cancer needs to be detected early when the mutation burden is low. Assays that can identify cancer cells early in the disease can help achieve this goal.”

Nakshatri began working on the development after being approached by Kandice Ludwig, associate clinical professor of surgery at the IU School of Medicine and a breast surgeon at IU Health North Hospital, whose patient developed breast cancer in her right breast while breastfeeding. Nakshatri and his team were able to develop a new method of characterizing cells from the patient’s donated breast milk.

“There are numerous mutations that happen in our cells on a daily basis, and while not all of these mutations are cancerous, characterizing the cells from the breast milk helps determine what types of mutations can develop when women breastfeed,” Nakshatri said. “Furthermore, characterizing the cells helps differentiate which mutations could lead to breast cancer and which ones are benign.”

The tests were performed on donor milk from 10 other women with no history of breast cancer for comparison. Researchers were able to determine that two of the women’s breast milk contained cells that carried similar mutations associated with breast cancer.

“Breast cells grow quickly during breastfeeding, so by detecting those potentially defective cells early, we may be able to identify women at risk for cancer development and refer them for preventative measures.” Nakshatri said.

The team published a paper in 2020 in the American Association for Cancer Research journal that detailed the methods behind detecting and characterizing the breast milk-derived cells. Since then, Nakshatri and his team have had 100% success rate in growing the cells from the breast milk, and if cancer cells are identified in the breast, rapid characterization of the cells and sensitivity of cancer cells to FDA-approved drugs can be measured in as little as 15-20 days.

“While additional investigation is necessary to determine whether this method of characterization of cancer cells in breast milk can be used as a detection tool for women at increased risk of developing breast cancer, this is extremely promising work.” said Dr. Ludwig.

Nakshatri has patented this invention, along with several others, at IU’s Innovation and Commercialization Office to help further his research of breast cancer.