Like Angelina Jolie, the Italian actress Bianca Balti has also decided to proceed with the removal of tubes and ovaries as a precaution. Balti is in fact the carrier of a mutation on the BRCA1 gene which predisposes to the development of ovarian cancer, a neoplasm for which effective screening tools are lacking and which in 80% of cases is already diagnosed at an advanced stage.
In anticipation of the surgery, which she announces to undergo in the fall, the model has taken steps to collect and freeze her eggs, in case she wants to become a mother again. Certainly not a simple, painful choice, which – as Saverio Cinieri, president of Aiom (Italian Association of Medical Oncology) points out – can be reached with a course of oncogenetic counseling conducted in specialized centers.
World ovarian cancer day: more prevention is needed in women at risk
by Tiziana Moriconi
BRCA mutations
25% of ovarian cancer cases are attributable to mutations in the BRCA1 and BRCA2 genes. Of the 5,200 new diagnoses every year in Italy, 1300 are caused 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 properly, leading to an accumulation of genetic alterations that increase the risk of cancer.
A mutation of BRCA1 and BRCA2, inherited from the mother or father, therefore determines a greater predisposition to develop cancer than 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%.
When and why to take the BRCA test
For this reason, when diagnosing a patient it is important to know the mutational status of these two genes. “The BRCA test should be performed on all patients at the time of diagnosis,” says Cinieri. “This is the way forward both to define the best therapeutic strategies for the patient and to start the family path that can allow the identification of healthy people with BRCA mutation, in which to set up intensive medical and surgical surveillance programs for the reduced risk of developing ovarian cancer “.
According to current estimates, the risk reduction strategies (medical and surgical), implemented in healthy relatives positive to the preventive genetic test, are able to lead to a 40% reduction in the incidence of ovarian cancer in 10 years.
Electronic nose: from the examination of the breath possible diagnosis of tumor
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Custom routes
In these oncogenetic counseling paths, preventive surgical removal is a possibility to be concretely evaluated. “On the one hand, in women who wish to have children, a six-monthly control of a tumor marker (CA-125) is recommended together with transvaginal gynecological ultrasound,” continues President Aiom.
“On the other hand, surgical removal of tubes and ovaries (bilateral prophylactic adnexectomy) can prevent almost all ovarian cancers on a genetic-hereditary basis. Prophylactic surgery is nowadays recommended in women with genetic mutation who have already had pregnancies or who are in menopause “.
Sharing of choice and psychological support, especially in women still of childbearing age, are essential. “In making these decisions, the age of the woman, the type of mutation and the planning of possible pregnancies must therefore be considered”, concludes Cinieri. “The surgical removal of tubes and ovaries then makes pregnancy impossible, unless the oocytes have been frozen in advance, an option chosen by Bianca Balti”.