Breast cancer is the most common cancer among women, with approximately 5,500 new cases diagnosed annually in Israel, and it represents the second leading cause of cancer death in Western countries. In recent decades, there has been a continuous decline in breast cancer mortality, resulting from the introduction of screening tests for early diagnosis of breast cancer, alongside significant advances in treatments-both for early-stage and metastatic disease.
Screening Tests for Early Detection
Screening tests are designed for early detection of breast cancer, with the goal of identifying the disease at a stage when the disease burden is low and can be treated easily, as opposed to detecting the disease at more advanced stages where treatment is more complex and chances of recovery are lower. In breast cancer, there are several screening tests for early detection: self-examination including palpation and external examination of the breast's appearance and structure, manual examination by a physician, mammography, ultrasound, and breast MRI. The recommended frequency for performing these screening tests depends on the woman's risk level for developing breast cancer. Breast MRI, for example, is recommended only for women at high risk.
In recent decades, the medical world is undergoing a true revolution-and advanced technologies for personalized cancer treatment are becoming increasingly accessible. An innovative test called Galleri, recently launched, enables detection of many cancer types from a simple blood sample (this test is not included in the health basket). The test is based on analysis of genomic signatures that appear on free DNA fragments released into the bloodstream from cells in the body. Healthy cells and cancer cells are characterized by different genomic signatures, thus enabling cancer identification from a blood test even before symptoms appear. The Galleri test enables identification of more than 50 cancer types, including breast cancer. However, the potential of genomic technologies does not end with early cancer detection alone.
The Genomic Revolution in Breast Cancer Treatment
Advances in genomic technologies have led to significant improvement in understanding the molecular basis of breast cancer biology. Through the use of comprehensive genomic profiling using Next-Generation Sequencing technology, unprecedented information has been obtained on key genomic changes and on tumor development mechanisms over time. These developments marked the beginning of a new era in oncology called "personalized medicine," in which treatment decisions are based not only on general disease characteristics, but also on the unique biology of the tumor in each patient.
Today, this information can be obtained through Breast cancer diagnostic tests that play a central role in treatment decision-making throughout all disease stages: from assessing the need for chemotherapy in early stage, to matching targeted biological treatments in advanced stages.
Genomic Tests in Early-Stage Breast Cancer: Is Chemotherapy Really Necessary?
Most breast cancers are detected at an early stage, when the disease is curable. Treatment for breast cancer with overexpression of hormone receptors and without overexpression of the HER2 receptor includes surgery to remove the tumor, followed by additional (adjuvant) treatment, such as local radiation treatment, and systemic treatments for the whole body: hormonal treatment chemotherapy, biological treatment, or a combination of several treatments. These treatments have contributed greatly to reducing breast cancer recurrence rates in patients, but they include side effects and not all patients benefit from them. For example, chemotherapy is a treatment that sometimes involves significant side effects including fatigue, hair loss, nausea, anemia, nerve damage, fertility impairment, cardiac damage, and sometimes even cognitive decline. Since not all patients benefit from chemotherapy, there is great importance in accurately identifying patients who are truly expected to benefit from it.
This is where genomic tests come into play. The molecular-genomic test, Oncotype DX® Breast Recurrence Score test provides significant information regarding the expected benefit from adjuvant chemotherapy treatment and enables most patients today to safely forgo chemotherapy treatment. In the Oncotype DX test, the tumor tissue that was removed during surgery or biopsy is analyzed for expression of 21 genes, and its results are provided as a Recurrence Score (RS), which estimates the patient's personal risk of distant disease recurrence and mortality and the expected benefit from adding chemotherapy. This significant information enables personalized treatment guidance based on the unique biology of the tumor in the individual patient. Today, the Oncotype DX breast test is included in all professional guidelines for breast cancer treatment worldwide and is considered part of the treatment standard for these patients. The test is reimbursed by all of the health sick funds in Israel, according to criteria.
Genomic Tests in Advanced Breast Cancer: Matching Targeted Therapies To Genomic Profile
In the advanced disease stage, breast cancer is usually incurable, but in recent years many innovative treatments have been developed that make it possible to prolong life and maintain a good quality of life over time. These treatments, called targeted therapies, act against specific proteins or biological pathways in the tumor cells, sometimes only in the presence of certain mutations. Unlike chemotherapy, which damages dividing cells non-selectively, targeted therapies are matched to the molecular profile of the tumor. Therefore, identifying genomic changes in the tumor is a key pre-requisite for tailoring the appropriate treatment.
The Tempus xT test is a groundbreaking, comprehensive genomic test based on DNA and RNA sequencing of tumor tissue, alongside comparison with sequencing of the patient’s normal DNA. This approach helps identify mutations and molecular alterations that may inform the use of biological therapies, targeted therapies, and immunotherapy.
Until recently, genomic characterization of tumors was based primarily on a tissue sample obtained through biopsy. However, tumor tissue biopsy is an invasive procedure and can sometimes be technically challenging to perform. In recent years, liquid biopsy technology has also gained significant traction- a simple blood test that enables the detection of circulating cell-free DNA fragments originating from cancer cells.
Liquid biopsy tests, such as the Guardant360 test, enable comprehensive molecular characterization of the tumor without the need for an invasive procedure. These tests may help in identifying treatable mutations, in matching personalized treatments, and in monitoring genomic changes throughout the disease course, all through a simple blood test, with minimal risk and discomfort to the patient.
Summary
In summary, the genomic revolution has profoundly changed the way breast cancer is diagnosed and treated. The ability to understand the molecular "fingerprint" of each tumor now enables matching more personal and precise treatment for each patient, reducing unnecessary treatments, identifying innovative treatment options, and improving treatment success rates and quality of life.
The revolution in personalized medicine and genomic testing is now opening new horizons and offering real hope. The ability to identify hereditary risks in advance, alongside tailoring precise, personalized treatment, increases the chances of success and empowers women with the tools to act with awareness, confidence, and control over their health. For more information on screening tests, call: 077-956-3040 or visit our website at: https://oncotest.co.il/.