Thanks to the dedication and diligence of researchers, there are some impressive developments in finding the cure for breast cancer. Scientists harness genetics, immunotherapy, and other innovative treatments to precisely diagnose and target the disease. As a result, the most recent breakthroughs are helping to shape the way breast cancer is treated.
Also known as tomosynthesis or “tomo,” 3-D mammography captures X-ray images of breast tissue at multiple angles to create a digital 3-D picture of the breast. The dimensional images created by this new technology allow doctors to examine breast tissue layer-by-layer.
Doctors can detect breast abnormalities and tumors earlier with these more precise images. According to one study, this technology can also reduce the number of false alarms that require women to return for additional, unnecessary testing.
Previously, the two main factors in deciding treatment have been the tumor’s stage and whether it has a significant amount of hormone receptors, determining if specific therapies will be effective. Doctors are now implementing “tumor profiling,” looking for specific genes to help select the most appropriate treatment path.
When used in early-stage, hormone-receptor-positive breast cancer patients, looking at the tumor's genetic profile can help predict whether the cancer is likely to reoccur or metastasize and determine whether to recommend chemotherapy.
Tumor profiling, also known as molecular profiling, genomic testing, or biomarker testing, looks for changes (or mutations) to genes. Typically tumor tissue is extracted during a biopsy or surgery, and then the DNA is removed from the tumor cells. The DNA is then tested or sequenced, allowing the doctors to understand how responsive (or not) a particular treatment may be.
The immune system plays an important role in fighting off disease. Many of our systems’ proteins (also known as checkpoints) ensures that our immune systems do not inadvertently destroy our healthy cells. When cancer lives in the body, the cancer cells exploit the immune checkpoints. Immunotherapy—using the body’s immune system to recognize and kill tumors—has shown great promise for several cancers in recent years.
However, experts believed that breast cancer was immunologically silent; or undetectable to the body’s immune system. But some research suggests that immunotherapy could potentially be effective against two less-common aggressive subtypes, HER2-positive and triple-negative breast cancer.
There are several immunotherapy options for those diagnosed with breast cancer depending on their tumor type: Pertuzumab (Perjeta) and Trastuzumab (Herceptin) are monoclonal antibodies that are approved for people with HER2-positive breast cancer.
There are also Antibody Drug Conjugates (ADCs) such as Trastuzumab (Kadcyla) and Trastuzumab Deruxtecan (Enhertu) that target the HEr2 pathways for people with advanced-stage HER2 positive breast cancer. Similarly, Sacituzumab Govitecan (Trodelvy targets the TROP-2 pathway and is approved for those diagnosed with Triple Negative Breast Cancer (TNBC).
Increasing scientific evidence supports the identification of MAPK4 as a potential target for triple-negative breast cancer (TNBC). Researchers at Baylor College of Medicine noticed significant levels of the enzyme MAPK4 present in cancer growth. Investigators believe their findings support further studies evaluating the potential of targeting MAPK4 in TNBC to offer improved treatments. However, the studies produced in their lab among animal models looked promising.
Improved HER2+ Metastatic Breast Cancer Survival Rates
Researchers have found that adding tucatinib to treatment with trastuzumab and capecitabine provides a lasting overall survival (OS) benefit for patients with previously treated, HER2-positive, metastatic breast cancer (MBC).
Trastuzumab, a monoclonal antibody, blocks tumor growth in different ways. Some block the ability of tumor cells to grow and spread. Others find and kill tumor cells or carry tumor-killing substances to them. Drugs used in chemotherapy, like capecitabine, work in different ways to stop the growth of tumor cells, either by killing the cells or preventing them from dividing. Giving trastuzumab together with capecitabine may kill more tumor cells.
Tucatinib is a member of a class of drugs known as tyrosine kinase inhibitors (TKIs). These drugs bind to the part of the HER2 protein inside the cell and prevent it from sending signals that promote cell growth. Other HER2-targeted TKIs include neratinib (Nerlynx) and lapatinib (Tykerb).
In Vitro Diagnostic Testing
Many doctors and health care physicians rely on various tools to diagnose disease and guide treatment decisions. One of the most common and widely used are in vitro diagnostics (IVDs), which are clinical tests that analyze blood or tissue samples taken from the body.
According to the DFA, in vitro diagnostics may be used in precision medicine to identify those diagnosed with breast cancer who are likely to benefit from specific treatments or therapies, including next-generation sequencing tests, which scan a person’s DNA to detect genomic variations.
Illumina, Inc.and Agendia N.V.recently announced a partnership to co-develop in vitro diagnostic tests for oncology testing. With next-generation sequencing, they aim to develop new tests to enhance the care and management of breast cancer patients, using the Illumina MiSeq™ Dx sequencing platform to expand the range of gene panels available for solid tumor analysis.
Liquid Biopsy Testing
Liquid biopsies are blood-based tests that look at circulating biomarkers or indicators in a laboratory test of features to determine what might be happening with cancer. In 2013, the U.S. Food and Drug Administration (FDA) approved the first liquid biopsy test, the CellSearch® CTC enumeration platform, to monitor patients with advanced metastatic breast, colon, and prostate cancers based on the cancers’ level of circulating tumor cells. Since then, additional liquid biopsy tests have received FDA approval.
Examples of liquid biopsies include circulating tumor DNA and DNA fragments shed by primary or metastatic tumors into the blood circulation. Another example of a liquid biopsy would be circulating tumor cells, whole cells shed by tumors into the circulatory system. Other examples of liquid biopsies are more exploratory.
Liquid biopsy tests provide a quick and non-invasive way to analyze tumors using biomarkers circulating in the blood. The process has been refined using next-generation sequencing to target many cancer-related genes in advanced cancer. As a result, these tests have increased their range of clinical applications in cancer treatment, including monitoring cancer growth, detecting genetic mutations, identifying signs of relapse, and predicting sensitivity to immunotherapy.
Precision medicine has transformed cancer therapy from a one-size-fits-all approach to customized treatment. For example, precision medicine for breast cancer is an approach to diagnosis, treatment, and prevention that considers the genes you're born with (your genetic makeup) and the genes or other markers present within the cancer cells.
With this approach, your blood or tumor tissue is collected for analysis, often genetic. For example, with the knowledge that biological changes within DNA, RNA, and proteins—the underlying cause of cancer—vary widely across patient populations, precision medicine provides personalized solutions for each patient.
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