«We ask to establish a National BRCA Awareness Day and that this day is February 23rd. Supporting us is Mary-Claire King, the American geneticist who was responsible for the discovery of the Brca 1 gene and the role of the Brca1 and Brca2 genes in the heredity of breast cancer.” Presenting the appeal that comes from below, from twelve cancer patient associations brought together and coordinated by aBRCAdabra, is Antonella Campanella, president and founder of the first association founded in Italy for people carrying the BRCA pathogenic mutation. «One year after the video manifesto that we presented to the institutions with eight requests relating to all the health issues that remain to be resolved for the protection of people carrying the BRCA pathogenic variants, we think it is time to turn the spotlight even more on this health issue that concerns a growing number of people, spreading awareness and knowledge.”
You inherit the risk of getting sick not only of your breasts and ovaries
The role of the pathogenetic variant of the Brca genes, also known as “Jolie genes”, for the famous actress’s choice to undergo prophylactic surgery (mastectomy and then oophorectomy) to reduce her very high risk of getting ill as a carrier of the variant, is still subject of intense research. Such pathogenic variants increase the risk of developing breast and ovarian cancer, from which they got their name (BReast CAncer genes). Over the years, it has been understood that these variants also increase the risk of other tumors, and not only in women, such as pancreatic cancer, which in approximately 8% of cases has Brca mutations, stomach cancer, prostate cancer and also in a typically environmental tumor such as to the lung. In fact, the associations involved in the appeal are Acto and Loto for the ovary, Andos, Fondazione Incontradonna, Europa Donna e Salute Donna for the breast, Apaim for melanoma, Codice Viola for the pancreas, Walce for the lung, Europa Uomo for the prostate.
A simple term, to save lives
The appeal for the establishment of the national day of February 23rd also includes the request to label with a single name, King’s syndrome, the presence of these gene variants with the aim of freeing ourselves from the now erroneous idea that BRCA means risk only for breast and ovaries, as the term Hboc which stands for hereditary breast and ovarian cancer syndrome would lead one to believe. This would allow us to reach a greater number of people with preventive measures and effective treatments, as already proposed by a comment by Colin C. Pritchard of the University of Washington School of Medicine on Nature entitled «A new name could help save lives».
The importance of taking tests
«The risk conferred by these mutations varies from individual to individual, the genetic background of each person modulates this increased risk, as do environmental factors, so much so that the challenge is to be able to arrive at individual preventive programs» explained the geneticist Liliana Varesco, head of the Hereditary Tumor Center, IRCCS San Martino Hospital in Genoa and member of the Technical Scientific Committee of aBRCAdabra. Knowing the mutational status of Brca and similar pathogenic variants in the individual represents an important step both at the level of oncological prevention and medical therapy. Oncogenetic counseling is necessary: in the event of identification of a pathogenic variant in healthy carriers, personal and family oncological prevention courses are undertaken, “to promptly arrive at the diagnosis in those who are positive for the mutation” he explained Laura Cortesi, director of oncology genetics at the Modena Polyclinic. In the event of a dangerous mutation, in fact, it is necessary to participate in some screenings earlier than expected and evaluate preventive surgery, with the removal of the breasts and ovaries. “Furthermore, the presence of a dangerous mutation is a predictive factor for response to therapy, such as important drugs such as parp inhibitors.” Despite all this, even today the test is done in the majority of cases after diagnosis. The associations’ appeal also intends to resolve the problem of regional inhomogeneity in access to tests and in the existence of structured pathways for taking care of the person carrying the mutation.
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