WHEN, at the age of 46, Luana discovers that she has inherited the Brca mutation, she begins to be tormented by a question: better to resort to preventive surgery, reducing the risk of cancer but giving up much of her femininity, or not to face any operation, living, however, with the fear of developing the disease? Giving an answer is difficult, although Luana is well aware of the brutality of the disease. In her family, breast cancer has affected her great-grandmother, grandmother, mother, who died at the age of 50, and also her younger sister, who underwent surgery and started hormone therapy shortly before her.
Breast cancer: “It is urgent to democratize access to genetic tests to avoid unnecessary chemotherapies”
by Irma D’Aria
In Italy, many people ask the same question as Luana, so much so that it is estimated that there are 150 thousand people with mutations in the Brca genes, genetic defects that increase the chances of developing breast or ovarian cancer. They are also known as “Jolie genes”, from the surname of the American actress who in 2013, finding herself positive for Brca 1, decided to remove the breast and ovaries as a precaution to reduce the risk.
The genetic test
“After my sister’s diagnosis,” says Luana, “the doctor advised both of them to do the genetic test. So we found out we were positive about Brca 2“. Between the two mutations it is the one considered less aggressive, but the risk percentages are still impacting: according to data from the Italian Association of Medical Oncology, Brca 2 increases the risk of having breast cancer by 49% and by 18% that to the ovaries, while Brca 1 increases them by 57 and 40 percent respectively. The probability of transmitting the mutations to the children is 50% and, although one inherits not the neoplasm but the risk of developing it, on a psychological level the impact is equally strong. “When they explain to you that you have such a high percentage of developing cancer it is as if they tell you that you already have it,” comments Luana.
Breast cancer: “It is urgent to democratize access to genetic tests to avoid unnecessary chemotherapies”
by Irma D’Aria
Once the mutation is discovered, she is offered two options: more frequent checks every year, to detect any early-stage tumors, or undergo preventive surgery, as she did. Angelina Jolie. In the latter case, the percentages remain high, but in a positive sense. It is estimated, in fact, that the removal of the mammary glands reduces the risk of developing breast cancer by up to 90%, that of the fallopian tubes and ovaries by up to 80-95% the possibility of future ovarian cancer. “They explained to me that if I had undergone the operation, my risk became equal to that of women without a mutation,” recalls Luana. “This information, also considering my mother’s story and the fact that having two children already made it easier to agree to give up future pregnancies, could make the path of prevention seem obvious. But deciding to remove everything was not trivial ”.
Reconstructive plastic surgery
Luana realizes that she has made the best choice when, after the removal of the breast, the doctors through a biopsy find a tumor in situ in her right breast. “I have gained years, for me and my children, but what I have lost is not a little. After the operation, I suddenly went through menopause, without my period and sexual desire. This inevitably also affected my husband and in addition I changed aesthetically. Surgery has made great strides, but the scars on the breasts, which I call my two smiles, are visible and I have lost part of the sensitivity ”.
Breast cancer: when the body heals the mind
by Mara Magistroni, Tiziana Moriconi
The outcome of a reconstructive plastic surgery, in fact, is not always as effective as that of cosmetic surgery. “When breast implants are placed for aesthetic purposes, there is always the mammary gland that gives the basic shape”, explains Marco Klinger, head of plastic surgery at Humanitas in Rozzano. “When, on the other hand, it is necessary to insert the prostheses after the removal of the gland, we find ourselves with nothing between the pectoral muscle and the skin. There are two options: if the patient has few breasts and firm skin, she does not have much skin left over and the breasts can be reconstructed within 20 days; if the patient has a lot of breasts, on the other hand, the skin must be remodeled with expanders, empty prostheses inflated monthly, accustoming the skin to resume the shape it will have with the definitive prostheses. In this case, we even take six months to a year ”. The aesthetic result, therefore, can differ according to the skin and the natural conformation of the breast and may not always be perfect. “For a woman these are variables to put on the scale”, concludes Luana, “and afterwards you have to work hard not to let your body, already tried by such interventions, be abandoned to itself. I clung to physical activity and it was good, because I regained the total mobility of the arms ”.
Genetic-oncological counseling
The story of Luana’s choice, with all its implications and consequences on a woman’s emotional and sexual life, is why experts, like Corrado Tinterri, director of the Breast Unit of Humanitas of Milan, argue the importance of establishing genetic-oncological counseling units in all Regions, made up of multi-professional teams to plan targeted and effective prevention and treatment paths for each patient. “It is estimated that 10% of breast cancers occur in women who have heredity. A huge population that must be intercepted, because those who are genetically predisposed require specific medical management, not comparable to the services provided to the general population in terms of prevention, surveillance and therapy “, underlines Tinterri, who with the Lombardy Region and the association” Europa Donna “has drawn up guidelines for the management of women with a genetic predisposition to the development of tumors.
“Genetic testing is recommended for high-risk profiles, who already have cases in the family, both of disease and mutation, and the reimbursement of the examination, as well as of the surveillance checks, depends on the Region ”. For now, only eight (Emilia-Romagna, Liguria, Lazio, Veneto, Campania, Tuscany, Sicily and Piedmont) have adopted the Diagnosis, Treatment and Assistance Protocols for People with High Family Risk and only in other eight (Emilia-Romagna , Lombardy, Liguria, Campania, Tuscany, Sicily, Piedmont and Veneto) the exemption from the payment of the ticket for the health services provided for by the surveillance protocols was also approved. “Considering that a part of women who turns out to be positive for BRCA mutations are still of childbearing age, under 50, and that prophylactic removals almost completely eliminate sexual activity”, concludes Tinterri, “it is essential to guide and also psychologically support patients in the path of choice and prevention “.
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