THEBreast cancer, when is it related to a BRCA mutationit goes treated preventively. This is what the experts explain on the occasion of the World Cancer Day, which occurs on February 4th. Active surveillance, in fact, is not enough.
Breast cancer: cases in Italy
In Italy the Breast cancer is the most frequently diagnosed cancer. In 2020according to Aiom-Airtum relationship, “Cancer numbers 2020” have been estimated 54,976 cases in the female population, 30.3% of all tumor forms. According to data fromHigher Institute of Health 5-10% of breast cancers are hereditary, or linked to the presence of mutations in the genes that make up DNA. THE BRCA1 and BRCA2 genes they are mainly responsible for the genetic predisposition to develop cancer. Men can also be affected by breast cancer which, particularly at a young age, is associated with the presence of BRCA2 and, to a lesser extent, BRCA1.
Preventive mastectomy
«The choice of Angelina Jolie and Bianca Balti in Italy, both with BRCA mutations, who underwent a Bilateral mastectomy to permanently avoid the risk of breast cancer, caused a lot of discussion. Yet their choice is the only plausible one. The alternative is to wait for the cancer to arrive. Unfortunately, women who carry the BRCA mutation at a young age are denied the possibility of preventive or prophylactic bilateral mastectomy because there is no legislation in this regard. The In fact, the National Health System does not include this procedure in the LEAs. Prophylactic mastectomy is offered only to a small number of women with BRCA mutation, in some virtuous hospitals that can afford to help these women by covering the costs of these procedures. Generally, however, it is a practice that is not done due to lack of resources. To date, with the knowledge achieved regarding genetic mutations, we need legislation and funds to be allocated. Prophylactic mastectomy in women with BRCA mutation must be an option to be offered to some young patients”, underlines the Professor Marzia Salgarelloreconstructive plastic surgeon at the Agostino Gemelli University Hospital Foundation IRCCSPresident Beautiful After Breast Cancer (BABC) Italia Onlus.
BRCA mutation: carriers in Italy
According to data provided by aBRCAdabrathe first national association to support all carriers of BRCA genetic mutations and their families, which fights to ensure that the right to genetic testing is extended throughout the national territory, the carriers in Italy are about 150,000, 1 person in every 400among men, women, adults and children. BRCA is a gene that prepares the women at a high risk of develop over the course of one’s life, early and aggressively, mainly the breast and ovarian cancer. For men, it predisposes to an increased risk of male breast and prostate cancer.
Recent studies show that, although in a lower percentage, there is an increased risk, in both sexes, also for other oncological pathologies such as pancreatic cancer and melanoma. The mutations of BRCA genes can be passed on to childrenboth males and females, with a 50% probability with each new pregnancy.
Active surveillance VS preventive surgery
«For these patients the options are active surveillance or preventive surgery. Active surveillance means mammography and MRI every year and ultrasound every 6 months. In this case the presence of the tumor it would however affect the patient’s prognosis and force her to need for oncological treatment which would be avoided in the case of prophylactic surgery”, continues the Doctor Liliana Barone AdesiMedical director of the Plastic Surgery Unit, Agostino Gemelli IRCCS University Polyclinic Foundation, Vice President of BABC Italia Onlus.
Tumor: how to diagnose the BRCA mutation
«The genetic risk is established a simple blood test. The process begins with one genetic visit. The geneticist analyzes themedical history of the person and family and decides, according to regional guidelinesif the patient can undergo genetic testing at her expense National Health Service. The exam is preceded by a interview with the psychologist. If, however, according to guidelines, the exam for that patient is not eligible for reimbursement, the choice is up to her: she can decide to do not carry it out or undergo the genetic test privately», concludes the Doctor Paola Martinoni, breast surgeon, expert in first and second level diagnostics for the prevention of breast cancer and for years dedicated to the follow-up of cancer patients and their physical and psychological support. In 2015, on the advice of Professor Umberto Veronesi, you founded theAssociation Libellule Onlus, in memory of Franca Veronesi. From an Association, it has now become Libellule Insieme ETS Foundation, oncological point of reference for hundreds of women. With the mission of taking care of women who have had a breast and ovarian cancer through thehospitality and the health follow-up.
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