In this article, we focus on metaplastic breast cancer and the important discovery of a familial link to the Brca1 gene.
metaplastic breast cancer, a rare and aggressive form of breast cancer, has always posed a challenge to medical research. Recently, a study carried out by the European Institute of Oncology (IEO) in Milan shed new light on this neoplasm, demonstrating for the first time ancestral link with mutations Brca1 gene. This discovery could pave the way for a better understanding of the mechanisms behind the development of metaplastic tumors and expansion of treatment options that have so far been limited and ineffective.
The IEO study involved a large group of patients who underwent the test. BRCA1 and BRCA2, known as the “Jolie genes” after American actress Angelina Jolie, who made public her mutations in these genes associated with cancer risk. Patients were selected based on their personal and family cancer history. What struck experts was the high percentage of metaplastic tumors diagnosed as hereditarya hitherto completely unknown discovery in the field of medicine.
The important role of the Brca1 gene
Giovanni Corso, breast surgeon at IEO and first author of the study, explains that metaplastic breast cancer still remains a mystery. This is a rare pathology, often affecting young women and not responding well to traditional treatment methods. Discovery of its possible connection with Brtsa1 Finally, it may open up new treatment prospects through the use of a new generation of drugs effective against tumors associated with this genetic mutation.
Bernardo Bonanni, director of IEO’s Genetics and Cancer Prevention Unit, along with Mariarosaria Calvello and Monica Marabelli, co-authors of the study, highlighted some of the key findings. First of all, patients carrying mutations in the Brca1 and Brca2 genes were found to have a significantly higher incidence of metaplastic tumors compared to individuals without the mutation. In particular, Brtsa1 appears to play a predominant role in this hereditary predisposition. However, experts note that the results are based on carefully selected series and that further studies in unselected patient populations are needed to confirm the role of Brca1 in metaplastic cancer.
Future prospects in connection with the discovery of metaplastic breast tumor
Paolo Veronesi, director of the IEO senology program, suggests that this discovery may have implications for surgical options for metaplastic tumors, and also considers the possibility contralateral prophylactic mastectomy. However, Giovanni Corso urges caution, emphasizing that much research is needed to fully understand metaplastic tumors. As with many rare and difficult-to-treat cancers, the initial results nevertheless open the door to optimism and hope for patients suffering from this rare form of cancer.