A new gene mutation may contribute to breast cancer treatment


A recent study revealed that a gene mutation detected as a genetic indicator in early onset breast cancer may become an important factor for doctors to find a new therapeutic target and early diagnosis of the cancer.

“It’s a new target in cancer, and it’s very exciting,” remarked study co-author Nita Maihle, PhD, Associate Director of Education and Professor of Pathology at GRU Cancer Center. “This tells you that all the different types of stromal cells in breast tissue are affected by the GT198 mutation because they all come from a common progenitor cell.”


The researchers said that they had found a gene, labeled GT198, which can contribute to breast tumor growth and development when mutated. This gene was previously found to have connection with DNA repair. It is a co-activator of receptors for steroid hormones such as estrogen. Because of the contribution of the gene to the DNA repair pathways, GT198 has been known as one of the cause of breast cancer.

The research was conducted by researchers at the Medical College of Georgia and Georgia Cancer Center within Augusta University and published in the American Journal of Pathology.

The researcher team led by Dr. Lan Ko, MD, PhD, a Cancer Biologist in the Department of Pathology at the Medical College of Georgia at Augusta University, took a look at 254 cases of breast cancer. They then pointed out how GT198 affect breast cancer development when it has been mutated by genetics and/or environmental factors.

GT198 is typically regulated by estrogen, but once becoming mutated, it can enable tumor production without estrogen, which leading to the rapid development of cancer. “Regardless of how much hormone you have, it’s out-of-control growth,” noted Dr. Ko.

health4life-gene-mutation-contributing-to-breast-cancer-treatment (1)The mutated form of GT198 has presented in the early stages of not only breast cancer, but also ovarian cancer. In this study, the researchers discovered the progenitor cells, which should eventually make healthy breast tissue, of the studied cases contained GT198 mutations. This creates a promising environment for the breast cancer growth.

They studied that GT198 directly affects stem cells found in blood vessels that make these various components of breast tissue – providing valuable information to scientists to help find the answer how different tissue layers become tumorigenic.

“This gene mutation can be in both the blood and the tumor tissue of patients, and when in the tissue, it’s in high percentages,” said senior study author Dr. Lan Ko. “We believe that once this gene is mutated, it induces the tumor to grow.”

 “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,” added Dr. Ko.

It is estimated that in 2016, as 1 in every 8 women can develop invasive breast cancer in the lifetime, there will be 246,660 new cases with the cancer. For non-invasive breast cancer, there may be approximately 61,000 new cases diagnosed.

This cancer has still remained one of the top two causes of the highest fatality related to cancer for women in the U.S.



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