The gene sequencing test can help identify a targeted diagnostic-therapeutic path
Think a little. When we need to renew an identity document, we go to the appropriate offices to carry out the practice. And it is necessary that the Registry Service is fully functional, recognizes us and can issue what we need. Also for tumors, and in particular for breast cancer, the same must be done. Except that in this case the office is a highly equipped laboratory, capable of stealing the secrets of diseased cells by revealing the invisible secrets of the genetic mutations that characterize them. Today science allows this. But unfortunately the tests are not done in all patients, even if they would be really important to use the most suitable medicines case by case. In particular for the tumor that has already metastasized.
An investigation reveals the situation
In Italy today there are over 37 thousand women living with a diagnosis of advanced breast cancer and the detection of genetic mutations responsible for tumor growth offers important values to guide the treatment path, thanks also to scientific innovations increasingly aimed at acting on specific genetic characteristics of the tumor. But what answers can they get? In recent months, IQVIA has carried out research involving nearly 300 pathological anatomy departments and molecular biology laboratories throughout the country, to focus on the available technologies and their effective use to carry out gene sequencing tests. Among the departments involved, only 33% have gene sequencing technologies available and of these only 30% perform this type of breast cancer test. "We are facing a turning point for the treatment of breast cancer that requires the definition of diagnostic-therapeutic paths that increasingly take into account advanced molecular diagnostics" explains Pierfranco Conte, Professor of Medical Oncology at the University of Padua and Director of Oncology 2 at the IRCCS Istituto Oncologico Veneto. “The knowledge developed on the genetic causes underlying tumor growth has in fact led to the definition of differentiated therapeutic pathways in breast tumors with particular genetic alterations such as HER2 + tumors and BRCA 1 and / or 2 mutated tumors. Recently, new target therapies have been developed, aimed at acting on specific mutations, such as the PIK3CA mutation which affects about 40% of patients. These innovations, in light of the current paradigm of diagnosis and treatment, require the development of new strategies, which focus on the role of molecular diagnostics and the collaboration between clinicians and laboratories. "
Among the mutations affecting the patients to be identified there is also that of the PIK3CA gene, the most common mutated gene in breast cancer. This mutation is present in approximately 40% of patients with HR + / HER2- breast cancer (subtype representing approximately 60% of all breast cancers). Detecting the presence of the PIK3CA mutation is important for treating patients with targeted therapy. A "precision" approach takes on even more importance if we consider that the presence of the PIK3CA mutation correlates with a poor prognosis and a poorer response to traditional endocrine or chemotherapy therapies.
From the laboratory to the treatments
"The availability of advanced molecular diagnostic technologies and scientific discoveries on tumor genomics have profoundly changed the role of the laboratory, which today and increasingly in the near future will be the essential starting point of the diagnostic and therapeutic path for cancer treatment. breast ”comments Angelo Paolo Dei Tos, Director of Pathological Anatomy at the University of Padua. “Today in the laboratory we are able to detect the mutation status of the genes involved in the growth of breast cancer, such as the hereditary mutations of the BRCA 1 and / or 2 gene and the frequent somatic mutation, therefore not hereditary, of the PIK3CA gene. Knowledge and technologies that to translate into clinical practice require the implementation of a new model, to ensure the availability of technologies and resources to the pathological anatomy departments to carry out gene sequencing tests and to facilitate collaboration between laboratories and oncology departments ". However, the figures remain of a reality that should not be underestimated. Breast cancer is the most common cancer among the female population. In Italy, over 800,000 people live with the disease and it is estimated that in 2020 about 55,000 new diagnoses were made. Thanks to medical advances, survival today reaches 87% five years after diagnosis and 80% at 10 years. Despite this, 12,000 patients still lose their lives every year due to the consequences of breast cancer. From a molecular point of view, breast cancer can be classified on the basis of some hormone receptors (HR, ie the presence of hormone receptors and HER2) present on cancer cells and genetic mutations that influence the growth and evolution of the tumor.
In collaboration with Novartis
- Breast tumors: tailor-made therapy with PIK3CA mutation coming soon
- The genetic test for the targeted treatment of breast cancer
- Breast cancer treatments, new therapies are on the way
- Breast cancers, why they are not all the same and how they deal with each other
- Breast cancer, why genomic testing is important
Tag: Breast Cancer