In making this decision, the woman’s age, the type of mutation and the planning of any pregnancies must be considered
I heard that the supermodel Bianca Balti at just 38 years old has announced that she will undergo the removal of tubes and ovaries as a preventive measure because she has been diagnosed with a genetic predisposition to develop cancer. I’m 42 and we lost an aunt to this type of cancer. I would like to know more.
He answers Saverio Cinieripresident of the Italian Association of Medical Oncology (Aiom)
Bianca Balti has revealed that she is carrier of the mutation of the BRCA1 gene: 25% of cases of ovarian cancer attributable to the mutation of the genes Brca1 and Brca2. Effective screening tools are lacking in this neoplasm and about 80% of patients have the disease already in an advanced stage at the time of diagnosis. Knowing the mutational status of these two genes is very important and BRCA testing should be performed on all patients at the time of diagnosis. this is the way forward to define the best therapeutic strategies and start the family path that can allow the identification of healthy people with BRCA mutation, in which to set up intensive surveillance programsmedical and surgical, to reduce the risk of developing ovarian cancer. Preventive surgical excision he must therefore be included in an articulated path of oncogenic consultancy in specialized centres.
It has been estimated that risk reduction strategies (medical and surgical), implemented in healthy relatives positive to preventive genetic testing, are able to lead to a reduction in the incidence of ovarian cancer by 40% over ten years. Of the 5,200 new diagnoses each year in Italy, approximately 1,300 are determined by alterations in these two genes. BRCA1 and BRCA2 produce proteins capable of blocking the uncontrolled proliferation of cancer cells. When they are mutated, i.e. defective, the DNA is not repaired correctly e there is an accumulation of genetic alterations, which increases the risk of cancer. A mutation of Brca1 and Brca2, inherited from the mother or from the father, therefore determines a predisposition to develop cancer more frequently than in the general population. Women who inherit the BRCA1 mutation have a 40% chance of developing ovarian cancer in their lifetime. The percentages are lower for the BRCA2 gene, equal to 18%. Information on the possible presence of the BRCA mutation must be acquired at the time of diagnosis, because it can contribute to the definition of a correct course of treatmentstarting from the first line of treatment.
They must be started in family members who have the mutation intensive surveillance programsranging from six-monthly checkups to surgical removal of the tubes and ovaries. On the one hand, they are recommended for women who wish to have children a six-monthly check of a tumor marker (Ca-125) together with transvaginal gynecological ultrasound. On the other side, surgical removal of tubes and ovaries (bilateral prophylactic adnexectomy) can prevent almost all ovarian tumors on a genetic-hereditary basis. Prophylactic surgery is now recommended in women with genetic mutation who have already had pregnancies or who are in menopause. Sharing of choice and psychological support are essential, especially in girls who are still of childbearing age. In making these decisions, the age of the woman, the type of mutation and the planning of any pregnancies must therefore be considered. Surgical removal of tubes and ovaries makes pregnancy impossibleunless oocytes have been frozen in advance, an option chosen by Bianca Balti.
January 29, 2023 (change January 29, 2023 | 1:20 pm)
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