Diving into what’s new in breast cancer research

Editor’s note: Lauren Kopicky, DO, an osteopathic physician with the Cleveland Clinic, reviewed this article for medical accuracy.

While they are still rare, breast cancer diagnoses in women younger than 50 have been increasing steadily over the past five years. Lauren Kopicky, DO, an osteopathic physician who is a fellowship-trained breast surgical oncologist at Cleveland Clinic, recommends that all women undergo a breast cancer risk assessment beginning at the age of 25. Doing so can help clinicians guide appropriate screening recommendations and catch cancer in the earlier stages when it is more treatable.

“This evaluation also includes relevant family history that contributes to recommendation for genetic testing,” notes Dr. Kopicky, who primarily takes care of patients with benign and malignant breast disease. “All women and men diagnosed with breast cancer should be offered genetic testing. Our knowledge of genetic mutations and associated cancer risk increases significantly as more testing is performed. If an individual is found to have a genetic mutation and is at increased risk for certain types of cancer, screening recommendations may be different than they are for an individual without a genetic mutation who is at average risk.”

Research and technological advances are pushing medicine forward all the time, and researchers are currently exploring several aspects of breast cancer detection and treatment that they expect to positively impact the field of breast cancer treatment. Although each case of breast cancer can have a different cause, it is beneficial for doctors and researchers to look into potential factors that can influence the disease, such as lifestyle, habits and other environmental factors, as well as inherited gene changes. Some areas of research involving breast cancer treatment currently include:

• Studying if shorter courses of radiation therapy for very early-stage breast cancers are at least as good as the longer courses now often used
• Testing if different types of radiation therapy might be better than standard radiation
• Combining certain drugs to see if they work better together
• Trying to find new drugs or drug combinations that might help treat breast cancer that has spread to the brain
• Testing different immunotherapy drugs to treat triple-negative breast cancer
• Giving cancer vaccines to see if this helps keep the cancer from either worsening or coming back after treatment
• Determining if chemotherapy is needed to treat every woman with HER2-positive breast cancer
• Finding new treatment options when breast cancer becomes resistant to treatments

Researchers are exploring all of these topics via lab studies, clinical trials and other means. A study by Stanford Medicine has delved deep into thousands of types of breast cancer and discovered that the gene sequences we inherit at birth are typically decent predictors of the breast cancer type we might develop decades later and how deadly it might be to us. Also known as your “germline genome,” these inherited genes have helped guide researchers toward knowing whether cells with potential cancer-causing mutations can be recognized and eliminated by the immune system.

Other studies are looking at the effects of physical activity, weight gain/loss and diet on breast cancer risk, as well as which of the gene mutations should be most concerning and the best practices for genetic testing.

Cancer testing

The current most common testing for breast cancer is done via mammogram, ultrasound and breast MRI, although new tests are in the works. One called breast tomosynthesis (also known as 3D mammography) is an imaging test that combines multiple breast X-rays to create a three-dimensional picture. It is already being used in some treatment centers. The 3D imaging is often used to investigate the cause of breast problems, such as a breast mass or pain and nipple discharge. Other tests that are currently in development include molecular breast imaging, positron emission mammography, electrical impedance imaging, elastography and optical imaging tests.

Electrical impedance imaging (EIT) is based on the idea that breast cancer cells conduct electricity differently from normal cells. To test this, electrodes are taped to skin to pass small electrical currents through the breast—this attempts to detect cancer cells without using radiation. It is hoped that this test might prove to be useful in helping to classify tumors found on mammograms, but so far not enough testing has been done to be able to prove this.

“One exciting development in breast cancer screening is the integration of AI in mammography,” said Sadaf Lodhi, DO, an osteopathic OB/GYN, intimacy coach and owner/founder of Femme Vie Health. “I am not using it in my practice yet, but it helps catch even the smallest signs of cancer early on in those radiology departments that use it. This approach not only improves accuracy but also reduces the stress of unnecessary follow-ups and biopsies.”

Breast cancer tissue is routinely being tested for the biomarkers (any gene, protein or substance that can be measured in blood, tissues or other body fluids) ER, PR and HER2 to help make treatment decisions. For instance, a newer medicine, Abemaciclib (Verzenio), is available for women with HR+, HER2–, node-positive early breast cancer with a high risk of returning (as determined by a doctor) or certain types of HR+, HER2– metastatic breast cancer. The goal of these studies is to explore how gene variants can have an impact when combined.

“Recent breast cancer research and advancements are centered around individualizing treatment plans with appropriate de-escalation of therapy,” said Dr. Kopicky. “We have shifted from a ‘one-size-fits-all’ treatment mentality to precision medicine, with emphasis on treating based on tumor biology (behavior of the cancer).”

For example, BRCA1 and BRCA2 (BReast CAncer genes 1 and 2) are the most well-known genes linked to breast cancer risk; everyone has these genes, but some individuals inherit mutations that can increase the odds of getting cancer. Researchers are trying to pin down more of the reasoning behind why the mutations affect some people differently than others, and how to best identify these gene changes.

Honing into ctDNA

Another growing area of research is around circulating tumor DNA (ctDNA), DNA that is released into the bloodstream when cancer cells die. As researchers identify and test the ctDNA in the blood for biomarkers, this could lead to them finding out more information on:

• Determining if a certain drug will work on a tumor before trying it
• Predicting if the breast cancer will come back in women with early-stage breast cancer
• Predicting if treatment is working to destroy the tumor instead of using imaging tests
• Determining if breast cancer or a high-risk breast condition is present before changes are found on an imaging test

“Paying attention to ctDNA is essential, as it provides a minimally invasive way to monitor cancer,” said Dr. Lodhi. “By examining ctDNA through a blood test, doctors can detect genetic changes in tumors, track responses to treatment and even predict relapse earlier than with imaging alone. This method supports more personalized and responsive treatment plans, helping patients with various cancer types get better outcomes​.”

“We have shifted from a ‘one-size-fits-all’ treatment mentality to precision medicine, with emphasis on treating based on tumor biology.”

Medicine for prevention

Some women who have a higher risk of getting breast cancer take hormonal medicines such as tamoxifen, raloxifene, exemestane and anastrozole, which can help reduce their cancer risk. Researchers are still exploring who  specifically can benefit the most from taking these drugs. Other trials are looking into whether non-hormonal medicines such as Ruxolitinib can help reduce cancer risk as well.

As researchers learn more about breast cancers and how they can be treated/prevented, physicians are implementing changes to improve patient care and patients’ quality of life. If you are interested in learning more about participating in clinical trials, please check out the American Cancer Society.