2023-09-11 11:54:34
by Health Editorial Staff
Every year, in our country, 15% of cases of ovarian cancer, 10% of the prostate and 7% of the breast are attributable to BRCA alterations, which is why it is important to extend tests to the relatives of the patients
Every year, in Italy, 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 the mutation of the BRCA1 and BRCA2 genes. Precision medicine can exploit the molecular defect induced by genetic alteration to enhance the effectiveness of treatments and effectively 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 makes it possible 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 approximately 150 thousand people with the BRCA gene mutation, but the majority of these citizens do not know that they are carriers of the molecular alteration and, therefore, of the related oncological risk, because the genetic tests to identify it are not yet widespread enough, especially among healthy people. The appeal to raise awareness among citizens, clinicians and institutions on the importance of expanding access to these tests comes from the experts gathered at the Giffoni Innovation Hub, on the occasion of the Venice International Film Festival. Geni Ribelli is presented at the Giffoni Innovation Hub, the documentary by Donatella Romani directed by Roberto Amato, produced by Telomero Produzioni with the non-conditioning contribution of AstraZeneca and MSD.
Breast cancers in younger women
There is a real revolution underway in breast cancer therapy, based on increasingly targeted and effective treatments – says Lucia Del Mastro, full professor and director of the Medical Oncology Clinic of the IRCCS Policlinico San Martino Hospital, University of Genoa -. Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop in younger people than non-hereditary cancers, in more aggressive forms and with a significant psychological and social impact. They burst into the lives of women in full personal, professional and family planning. Hence the need for innovative therapeutic options, which 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. Knowing the mutational status of the BRCA genes – continues Del Mastro – is very important and the test must be carried out on all patients at the time of diagnosis. This is the path to follow to define the best therapeutic strategies and to begin the family path that allows the identification of healthy people with BRCA mutation, in which to set up risk reduction programs, ranging from intensive surveillance to prophylactic surgery. In particular, bilateral mastectomy surgery, i.e. the surgical removal of both breasts, can reduce the risk of developing breast cancer in the future by approximately 90% in healthy women.
Preventive surgery: to whom it is recommended
On the other hand, the surgical removal of tubes and ovaries can prevent almost all ovarian tumors on a genetic-hereditary basis and, at the same time, reduce the risk of breast cancer by over 50% – explains Domenica Lorusso, associate professor of Obstetrics and gynecology and head of Clinical Research Programming of the A. Gemelli IRCCS University Hospital Foundation of Rome —. This type of operation is recommended in women with 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. Sharing of choice and psychological support are essential, especially in women of childbearing age. It should be remembered that we are dealing 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 that 70% of women with advanced disease experience relapse within two years: this is why 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 studies show that, for some patients with advanced ovarian cancer and BRCA mutation, cure is possible.
The documentary film
Some genetic mutations favor the onset of tumors: this is the reality that the families in the documentary “Geni Ribelli” have to face and with which they learn to live – underline Donatella Romani and Roberto Amato -. a story of acceptance and the ability to redefine one’s existence, without losing the enthusiasm to set goals and dream. Furthermore, it is an insight into the figures of doctors who, thanks to research and innovation, manage to donate time to patients, time which, despite the diagnosis, can be filled with life, hope and projects. This documentary film delicately and authentically collects the emotional weight, complexity and fears of those who know they are carriers of these genetic alterations and live with the risk of developing cancer, and those who have already experienced the diagnosis of cancer – he says Ornella Campanella, President of aBRCAdaBRA ETS —. It is important to overcome stigma and shame, promoting awareness 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. Our goal is that all people who do not yet know that they are carriers of the BRCA mutation, especially if they are young, are intercepted by the healthcare system, before developing a BRCA-associated tumor, and are made safe.
Hereditary tumors and genetic counseling
The risk of transmission of mutations in the BRCA genes from parents to children is 50%. You don’t inherit the tumor, but the risk of developing it – concludes Emanuela Lucci Cordisco, medical geneticist at the Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome and researcher at the Università Cattolica del Sacro Cuore -. Men can also inherit the genetic mutation and, in turn, pass it on to their children. Males with the mutated gene are more prone to developing male breast cancer and prostate cancer. Oncology genetic counseling is a multi-phase process, which involves several meetings for an adequate definition of the risk of being a carrier of a BRCA mutation, based in particular on the evaluation of the family tree for at least three previous generations. The next step is the genetic test. The final genetic counseling involves the communication of the test result, the discussion relating to the management of the increased risk of developing neoplasms (i.e. prevention methods) in healthy people or those with previous cancer, the evaluation of the family implications and possible support psychological. It is also true that there is a 50% chance that the familial mutation is not inherited: in the event that the test to search for the familial mutation is negative, the risk of developing cancer returns to being the same as that of the general population. Geni Ribelli was broadcast in June on LA7d as a special episode of the Like program on LA7.
September 11, 2023 (modified September 11, 2023 | 11:54)
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