Home » Bianca Balti and the others: the false myths about BRCA mutations, reproductive and sexual health

Bianca Balti and the others: the false myths about BRCA mutations, reproductive and sexual health

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Bianca Balti and the others: the false myths about BRCA mutations, reproductive and sexual health

Just a couple of weeks ago the supermodel and entrepreneur Bianca Balti, 38, made public the decision to resort to preventive surgery of the breasts, tubes and ovaries because she carries the Brca 1 mutation, which greatly increases the risk of cancer in these organs. from a young age. The same medical choice that Angelina Jolie had made several years earlier, declared in a letter that opened the eyes of the world. And the same taken daily by many women, before and especially after her. Bianca is also making public another medical issue that concerns her, as she had already done in the past: the path of preserving fertility to freeze some eggs, so that she can hope for a future pregnancy after the operation.

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Thanks to social media, Balti herself is leading the news about her. On Instagram, for example, yesterday afternoon the model interviewed the breast surgeon Alberta Ferrari of the aBRCAdaBra Onlus association live on BRCA mutations. On the same channel, she just a week ago interviewed a gynecologist expert in fertility preservation. To both, Bianca has addressed the many questions received from those who follow her. A public service, you would say, because there is great misinformation about what a healthy woman carrying a BRCA mutation can or cannot do in terms of reproductive health. Even in the medical world, as revealed by a recent Italian national survey, published in Cancer.

Pill and TOS: the survey on Italian women with BRCA mutation

Let’s get straight to the point: can women like Bianca Balti, healthy carriers of a BRCA mutation and who have not yet resorted to preventive ovarian surgery, can use the hormonal contraceptive pill? And who, on the other hand, precisely because of the operation, has entered premature menopause, can take hormone replacement therapy (HRT)? The latest scientific evidence is indicating yes. In general, “there is no contraindication for either hormonal contraception or postmenopausal hormone replacement therapy for healthy carriers of BRCA mutations,” the authors report. Conversely, the former even reduces the risk of ovarian cancer both in the general female population and in those with a pathogenic BRCA variant. It is a pity that – as the study in which several important centers and patient associations aBRCAdabra and ACTO Campania took part – the prejudices are hard to die and that often these women do not receive correct information and assistance on these issues. The survey was conducted on 236 healthy Italians with BRCA 1 (137 women) or BRCA 2 (99 women) mutations, with an average age of 40 years. The results? Only one in 4 women (24.5%) used hormonal contraception and only 28.4% used HRT after being reported to carry a BRCA mutation.

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Fighting prejudices

“I think the most interesting data from the study concerns the reasons why women chose not to use the contraceptive pill and HRT,” she says. Breast Health Phaedrus Sinners, director of the Fertility and Procreation Unit of the European Institute of Oncology in Milan, who participated in the research: “As for HRT, in about 41% of cases the participants did not take it because they were concerned that it would increase the risk of cancer, but in 40% it was the same doctors who refused to prescribe it. This data underlines the need to work for the correct information of the general and sexual health of BRCA-mutated women ”. In fact, today the guidelines on premature menopause suggest taking hormone replacement therapy up to the age of 50, also with the aim of preventing the long-term consequences of the lack of estrogen on the bones, the cardiovascular system and cognitive functions. Risks and benefits must always be assessed on a case-by-case basis and on the basis of the most up-to-date scientific evidence. “These women don’t have to pay the price of premature menopause, which is a high price,” Peccatori points out.

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Regarding the contraceptive pill, after consulting with a doctor, 52 women (22.3%) said they were more concerned than before about the possible cancer risks associated with contraception. When asked about the cancer risk related to pathogenic variants of BRCA 1/2, 135 (65.5%) replied that hormonal contraception increases the risk of breast cancer and 23 (11.2%) that it increases the risk of ovarian cancer. . “It has not always been communicated – says the expert – that the pill actually has a protective effect against ovarian cancer even in these cases, just like for the entire female population. At the same time, the increased risk of breast cancer was emphasized, perhaps without considering that these women still undergo a prophylactic mastectomy ”.

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The impact on quality of life and sexuality

As a result of the lack of correct information, women have reported a reduction in quality of life, including sexual ones: an aspect too often overlooked by doctors. “This publication is the result of a beautiful group work born thanks to the stimulating congress organized by the dearest Mirosa Magnotti in Avellino in 2019, who passed away too soon. And this is why the group has decided to dedicate the study to her and to her tireless commitment. It seemed to us the most concrete and useful way to leave her mark forever: promoting new acquaintances ”, she comments Ornella Campanella, President of the aBRCAdabra association: “We are proud to have been able to intercept, measure and translate an unexpressed need for health into a tool to promote change, especially within the scientific community. The specific counseling on sexual well-being – he concludes – is still seriously inappropriate in terms and contents. And too often it is non-existent ”.

Maintain fertility despite cancer

Preserving fertility does not increase the risk of breast cancer

Let us now return to Bianca Balti and her decision to resort to the preservation of fertility. Also in this case, the scientific literature – largely the result of Italian studies – reassures: the techniques for preserving fertility and pregnancy do not seem to increase the risk of breast cancer, even in those who carry a mutation. Further confirmation came a few days ago from a study published in Jama Oncology. The research was conducted by the Karolinska Institutet in Sweden which followed 1,275 patients of childbearing age for 5 years. The very robust results show that fertility-preserving procedures did not increase relapses or disease-specific mortality. “It is not uncommon for women with hormone-positive breast cancer or their doctors to discontinue procedures for fear that they will increase the risk of cancer recurrence or death,” reports lead study author Anna Marklund: “In some cases, Women are advised to wait up to 5-10 years before trying to conceive but, with increasing age, fertility decreases. More knowledge on the safety of fertility preservation techniques is therefore required at the time of cancer diagnosis breast “.

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Of the 1,275 women followed (who fell ill between 1994 and 2017), 425 underwent fertility-preserving procedures with or without hormonal stimulation and the remaining 850 women represented the control group. Well, survival without recurrence was similar in all: 89% among those who performed hormonal stimulation, 83% among women who performed ovarian tissue freezing (which does not require hormonal stimulation) and 82 % among women in the control group. The same is true for overall survival with percentages of 96%, 93% and 90% respectively. A new analysis will be conducted in another 5 years.

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