On July 8th, we celebrated (virtually) the sixth edition of the Hereditary Breast Cancer Seminars organized by SOLTI and GEICAM, in collaboration with the Family and Hereditary Cancer Section of SEOM. The objectives of the Seminar were to: 1) provide training to all professionals involved in the diagnosis, monitoring and guidance of people susceptible to developing hereditary breast cancer, and 2) be a meeting point for sharing the latest advances in research and clinical practice in this disease.
At present, it is estimated that 5-10% of patients diagnosed with breast cancer have an inherited mutation. However, having a genetic change does not mean that the person will develop the tumor, but that person is more likely to develop it over their lifetime.
More accurate diagnoses
In the specific case of hereditary breast cancer, liquid biopsy saves patients from undergoing an invasive diagnostic procedure because it is performed using a blood sample. It allows for rapid and precise diagnosis, as it determines what the tumor is like and its alterations. Dr. Balmaña also notes, “liquid biopsy has allowed us to identify genetic changes that predict response to targeted therapies as well as the onset, throughout the disease, of genetic changes that reverse the function of BRCA1/2 proteins and identify patients less likely to respond to targeted therapies.”
On the other hand, Dr. Elena Aguirre states that “the implementation of new sequencing technologies –next generation sequencing (NGS) – in clinical practice has made it possible to identify patients with molecular alterations that may lead to a suspected hereditary predisposition to cancer”.
These new tools will enable monitoring of the tumor during treatment or the detection of resistance that could affect treatment decisions. Therefore, genetic and pharmacological research in hereditary breast cancer is now also focusing on finding out which patients and at what time the disease could benefit from new therapies.
New treatment options
Increased understanding of molecular alterations has allowed for the personalization of drug therapy for women with BRCA1 or BRCA2 mutation. During 2020, two new drugs in the PARP inhibitor class became available in the National Health System catalog. These drugs have shown better results than chemotherapy in patients with advanced breast cancer and a germline mutation in one of the BRCA1 and 2 genes, according to two phase III studies. According to Dr. Balmaña, “PARP inhibitors are a highly effective treatment option for patients with cancer associated with a mutation in the BRCA1/2 genes.”
September 2020. Disponibles nuevas estrategias para predecir el riesgo a desarrollar cáncer de mama hereditario. Revista SEOM. 129, 48-49.