2023-09-08 16:32:46
Expanding access to tests for BRCA genes is the appeal launched today by the experts gathered at the round table of the ‘Giffoni Innovation Hub’, on the occasion of the Venice International Film Festival, with the documentary ‘Rebel Genes’, by Donatella Romani directed by Roberto Amato, created by Telomero Produzioni, with the non-conditioning contribution of AstraZeneca (Az) and Msd. Every year, in Italy – explains a note – 15% of ovarian cancer cases (780 diagnoses), 10% of prostate cancer cases (4,050) and 7% of breast cancer cases (3,900) are attributable to gene mutations Brca1 and 2.
Precision medicine is able to ‘exploit’ the molecular defect due to genetic alteration to enhance the effectiveness of treatments and control the disease. Not only. The identification of variants in the Brca genes in a woman with breast or ovarian cancer and in a man with prostate cancer allows us to undertake a process of oncogenetic counseling in family members, to identify healthy carriers at high risk and include them in treatment programmes. surveillance. In Italy there are around 150 thousand people with the BRCA gene mutation, but the majority of these citizens do not know it and, therefore, ignore the related oncological risk, because genetic tests to identify it are not yet widespread enough, especially among healthy people .
“A real revolution is underway in the therapy of breast cancer, based on increasingly targeted and effective treatments – states Lucia Del Mastro, full professor and director of the medical oncology clinic of the Irccs San Martino polyclinic hospital, University of Genoa – I breast tumors associated with Brca1 and Brca2 mutations tend to develop in younger people compared to non-hereditary neoplasms, in more aggressive forms and with a significant psychological and social impact”. They occur “in the lives of women in full personal, professional and Hence – continues Del Mastro – the need for innovative therapeutic options that guarantee quantity and quality of life, such as Parp inhibitors, a type of targeted therapy that acts selectively on the mutated cells that cause cancer”. this “the test must be carried out on all patients at the time of diagnosis, to begin the family path” and identify “healthy people with Brca mutation, in which risk reduction programs can be set up, ranging from intensive surveillance to prophylactic surgery” . Bilateral mastectomy, “i.e. the surgical removal of both breasts – recalls Del Mastro – is able to reduce the risk of developing breast cancer in the future by approximately 90% in healthy women”.
Even “the surgical removal of tubes and ovaries – adds Domenica Lorusso, associate professor of Obstetrics and gynecology and head of clinical research planning at the Gemelli Irccs University Polyclinic Foundation in Rome – can prevent almost all ovarian tumors on a genetic-hereditary basis and reduce the risk of breast cancer is over 50%. This type of operation – explains Lorusso – is recommended in women with a Brca1 gene mutation around the age of 40 and Brca2 around the age of 45, even more so if they have already had pregnancies or are already in menopause”. In making this type of decision, “sharing the choice and psychological support are fundamental, especially in women still of childbearing age. It should be remembered – underlines the expert – that we are faced with one of the most aggressive tumors among gynecological neoplasms, for which we have no effective screening programme. Too many women, around 80%, discover ovarian cancer in an advanced stage, also due to the absence of unequivocal and well-defined symptoms. We know – continues Lorusso – that 70% of women with advanced disease undergo relapse within 2 years: for this reason it is important to use first-line maintenance therapies capable of achieving long-term remission, such as Parp inhibitors alone or in combination with antiangiogenics. Data from clinical trials show that, for some patients with advanced ovarian cancer and BRCA mutation, recovery is possible.”
The documentary ‘Geni Ribelli’ is a story “of acceptance – underline Romani and Amato – and of the ability to redefine one’s existence, without losing the enthusiasm of setting goals and dreaming. It is also an insight into the figures of doctors who, thanks to research and innovation, are able to donate time to patients, time which, despite the diagnosis, can be filled with life, hope and projects”. The docufilm deals “with delicacy and authenticity – reflects Ornella Campanella, President of BrcadaBra Ets – the emotional weight, complexity and fears” of those who know they have the mutations and of “those who have already experienced the diagnosis of cancer”, but it also talks about “the importance of overcoming stigma and shame, promoting awareness – he continues – not only among people but also and above all in healthcare facilities and regions in which treatment paths are fragmented, incomplete or not yet implemented, creating dangerous inequities”. The objective is for the healthcare system to intercept these people “before they develop a BRCA tumor”.
You don’t inherit the tumor from your parents, but you do inherit the risk of developing it, with a 50% probability. “Men can also inherit the genetic mutation and, in turn, pass it on to their children – recalls Emanuela Lucci Cordisco, medical geneticist at the Gemelli Irccs Foundation in Rome and researcher at the Catholic University of the Sacred Heart – Males with the mutated gene are more predisposed to develop male breast and prostate cancer. Oncology genetic counseling is a multi-stage process. It is also true that there is a 50% chance that the familial mutation is not inherited” in this case the probability of cancer goes back to being “the same as that of the general population”. The docufilm ‘Geni Ribelli’ – concludes the note – was broadcast in June 2023 on LA7d as a special episode of the Like program on LA7.
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