New Gene Identified in Breast Cancer Development

In a new discovery, research shows that certain stem cells, which should make healthy breast tissue, can also have mutations that prompt them to instead make breast cancer cells.

The gene in question, GT198, mutates either from a genetic or environmental cause, and may develop into cancerous cells. This study was led by Lan Ko, MD, PhD, cancer biologist in the Department of Pathology at the Medical College of Georgia at Augusta University and at the Georgia Cancer Center at Augusta University. These findings were first published in The American Journal of Pathology.

While germline mutations in the GT198 gene are present in both breast and ovarian cancers, this study specifically focuses on early breast cancer diagnosis and treatment.

The researchers selected blood and tumor samples from 254 pre- and postmenopausal patients with breast cancer to see whether a gene known for its ability to repair DNA, may actually cause breast cancer.

The researchers demonstrated that breast tumor stromal cells carry GT198 somatic mutations and express cytoplasmic GT198 protein. Their results suggest that multiple lineages of breast tumor stromal cells are mutated in GT198. These findings imply the presence of mutant progenitors, whereas their descendants, carrying the same GT198 mutations, are collectively responsible for forming the breast tumor microenvironment. The results show that this data may be used as a way to provide an early detection mechanism and targeted treatment of breast cancer.

“This gene mutation can be in both the blood and the tumor tissue of patients, and in the tissue, it’s in high percentages,” said Dr. Ko in an Augusta University news release. “We believe that once this gene is mutated, it induces the tumor to grow.”

The research team will pursue new therapies, including antibodies and herb-derived treatments that target the progenitor cells, before they produce cancerous breast tissue. “We think the way to treat breast cancer is to target the progenitor cells. We want to kill these cells that are feeding the tumor rather than just killing the tumor cells, which is less effective,” said Dr. Ko.