Tumors, a documentary about the “Jolie gene” in Venice.

At the Venice International Film Festival we talk about genetics. Presented today, “Jenie Ribelli” is a documentary film that explores what it means to be a carrier of the BRCA gene mutation, like Angelina Jolie. But there are also an estimated 150,000 carriers in Italy who are still unaware that they are at greater risk of developing breast, ovarian or prostate cancer (and other organs) during their lifetime. Hence the call of the experts gathered today at the round table at the Giffoni Innovation Hub to raise awareness among citizens, doctors and institutions: it is necessary to expand access to genetic tests.

BRCA mutations and tumors

Every year in Italy, 15% of ovarian cancer cases (780 diagnoses), 10% of prostate cancer cases (4050) and 7% of breast cancer cases (3900 diagnoses) are associated with mutations in the Brca1 and Brca2 genes. The risk of passing BRCA gene mutations from parents to children is 50%. Men can also inherit them and pass them on to their children. Men with the mutated gene are more prone to developing breast and prostate cancer. Breast cancer associated with Brca1 and Brca2 mutations tends to occur in younger people than non-hereditary cancers, in more aggressive forms, and with significant psychological and social consequences. They burst into women’s lives, engaging in full-fledged personal, professional and family planning. Hence the need for innovative therapeutic options that guarantee quantity and quality of life.

Precision medicine

“There is a real revolution in the treatment of breast cancer, based on increasingly targeted and effective treatments,” says Lucia Del Mastro, Professor and Director of the Medical Oncology Clinic at the IRCCS Policlinico San Martino Hospital, University of Genoa – As i PARP inhibitors are a type of targeted therapy, which selectively acts on mutated cells that cause cancer.” To take advantage of these opportunities, it is necessary to know the mutational status of the Brca genes. For this reason, genetic tests should be performed in all patients at the time of diagnosis to determine the best therapeutic strategies, as well as to begin a familial pathway that allows the identification of healthy individuals with a BRCA mutation at risk, and disease reduction programs ranging from intensive surveillance can be established and ending with preventive surgery.

Preventive surgery

Bilateral mastectomy surgery, which is the surgical removal of both breasts, can reduce the risk of future breast cancer by approximately 90%, and surgical removal of the tubes and ovaries can prevent almost all types of ovarian cancer at the genetic level. -hereditary basis and at the same time reduce the risk of breast cancer by more than 50%.

Surgical removal of the tubes and ovaries is especially recommended for women with the BRCA1 gene mutation around age 40 and BRCA2 at around age 45. “Especially if they have already had a pregnancy or are already in menopause,” adds Domenica Lorusso, assistant professor of obstetrics and gynecology and director of the clinical research program at the University Polyclinic Foundation. A. Gemelli IRCCS in Rome. “Sharing choice and psychological support, especially for women of childbearing age.”

Ovarian cancer is one of the most aggressive gynecological tumors, and 70% of women with advanced disease experience a recurrence within two years: for this reason, it is important to use first-line maintenance therapy capable of achieving long-term remission, such as PARP inhibitors alone or in combination with antiangiogenic agents. “Clinical trial data,” Lorusso concludes, “emphasize that for some patients with advanced ovarian cancer and a BRCA mutation, cure is possible.”

Genetic consultation

“Genetic counseling in oncology,” explains Emanuela Lucci Cordisco, medical geneticist at the Fondazione Policlinico Universitario A. Gemelli IRCCS in Rome and researcher at the Catholic University of the Sacred Heart, “is a multi-step process that involves several meetings for an adequate determination. risk of being a carrier of a BRCA mutation, based, in part, on an assessment of the family tree of at least three previous generations.” This is followed by a genetic test, and final genetic counseling includes communication of the test results, a discussion of managing the increased risk of developing neoplasms (i.e., prevention methods) in healthy people or people with previous cancer, an assessment of the impact on the family, and possible psychological support. . “It is also true that there is a 50% chance that a familial mutation is not inherited: if the test to look for a familial mutation is negative, the risk of developing cancer will again be the same as with a common mutation. population”.

Film “Rebel Genes”

Documentary film “Rebel Geniuses” Donatella Romani AND Roberto Amato, created with an unconditional contribution from AstraZeneca and MSD and which will be presented in Venice at the Giffoni Innovation Center on the occasion of the Venice Film Festival, shows the reality that families diagnosed with a BRCA mutation have to face and learn to live with. “This is a story of acceptance and the ability to redefine one’s existence without losing the enthusiasm for setting goals and dreaming,” comment Donatella Romani and Roberto Amato. – It is also a look at the figures of doctors who, thanks to research and innovation, manage to donate time to patients. A time that, despite the diagnosis, can be filled with life, hope and projects.”

“This documentary sensitively and authentically captures the emotional weight, complexities and fears of those who know they carry these genetic changes and are living with the risk of developing cancer, and those who have already survived a cancer diagnosis,” he states. Ornella Campanella, President of aBRCAdaBRA ETS -. It is important to overcome stigma and shame by raising awareness not only among individuals, but also, especially in health care settings and regions where treatment pathways are fragmented, incomplete or not yet implemented, creating dangerous inequalities. Our goal is that all people who do not yet know they carry a BRCA mutation, especially if they are young, are caught by the healthcare system before they develop an associated BRCA tumor and are safe.” “Jenie Ribelli” aired in June 2023 on LA7d as a special episode of LA7’s Like and can be seen again here.