Breast and ovarian cancer, Sveva: “A pre-implantation genetic test, so my daughter has not inherited the BRCA mutation”
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The story is that of Sveva, 33 years old, and her daughter Aurora (fantasy names), just 9 months old. It begins in 2019, when Sveva discovers that she has inherited a BRCA1 gene mutation from her father, which significantly increases the likelihood of developing cancer, especially breast and ovarian cancer. “We knew of a certain familiarity of sisters and grandparents, but it was a distant memory”, says Sveva.
Then, in 2018, a 28-year-old cousin was diagnosed with breast cancer. Her young age had been an alarm bell for the doctors, who had immediately performed the BRCA genetic test on the girl, and then cascaded on to blood relatives: “Both my sister and I – says Sveva – tested positive”.
A story that brings to mind the case of Angelina Jolie which was among the first to make this problem known and to sensitize public opinion on this mutation.
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Sveva’s choice
The discovery that she had inherited the mutation came as a tsunami for Sveva, who immediately underwent risk-reducing preventive breast surgery (ie, bilateral mastectomy with reconstruction). “Losing the breast – continues the young woman – was psychologically challenging. I thought of a possible future daughter of mine who maybe would have known at 18 and would have lost her light-heartedness. I said to myself: I have to do everything in my power lest I live with this time bomb.”
Those who have a mutation that predisposes to the onset of cancer, in fact, have a 50% probability of passing it on to their children. So Sveva had started looking for information.
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Assisted reproduction and preimplantation genetic testing
Following two sentences of the Constitutional Court which amended law 40/2004 on medically assisted procreation, since 2015 in Italy it is possible to access assisted procreation techniques (MAP) and preimplantation genetic testing (PGT) for fertile couples who are carriers of serious transmissible genetic diseases, such as cystic fibrosis and beta thalassemia. These conditions also include mutations that determine the predisposition to cancer. The Veneto, where Sveva lives, has authorized the test for the search for BRCA mutations in embryos since 2016.
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In her research, Sveva had found a list of private centers that carried out it and together with her husband (she had been married for a few months) she had turned to one of these, starting a demanding journey from a physical, psychological and economic point of view. “They did a feasibility study for two months and then everything went smoothly: the stimulation (hormonal, ed.), the pick up (the retrieval of oocytes, ed.)”.
In vitro fertilization, he says, made it possible to obtain 5 embryos on which the pre-implantation genetic test was performed: in two cases the BRCA mutation had been transmitted, while the other three embryos did not have it. The first plant was successful, and Aurora was born.
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Technique accessible in a few regions in Italy
Only recently have some Regions allowed screening for these mutations, unfortunately entrusted mainly to private centres, comments the aBRCAdabra association (the first born in Italy for people with these pathogenic mutations), which supported Sveva in its path. In fact, the test is not included in the LEA (Essential Levels of Assistance) except for certain pathologies, and is often performed only in private centers (the list of centers can be found on the Istituto Superiore di Sanità website). Hence the problem of unequal access.
“In Italy it is possible to access this technique only in a few centers affiliated with the NHS, therefore in women who are carriers of the BRCA pathogenic variants this type of procedure requires a great economic commitment”, she explains Ornella Campanella, president of aBRCAdabra. In Sveva’s case, the total cost of assisted fertilization and pre-implantation diagnosis was over 11,000 euros.
“The preservation of fertility, sexual well-being, Pma and PGT are care pathways that in almost all regions are totally unrelated to the care of women with an active oncological problem or with the risk of developing cancer in their lifetime – continues Campanella – Once again, in order to offer a peaceful life to one’s children one must have the good fortune to reside in a specific region – and it is not a question of North-South – or have important economic possibilities. this case, continues irresponsibly to move away from the universalistic and equitable welfare model”.
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Know to choose
As regards the risk of ovarian cancer linked to the BRCA mutation, Sveva is currently being closely monitored, and in the meantime she is planning a new pregnancy thanks to the two cryopreserved embryos. “At first I didn’t want the discovery of the mutation to change my life – he concludes – but instead it did. Today I can not get sick (of breast cancer, ed.) and I know that my daughter will not have to live with this risk. It is It was a revolution that positively changed my whole life”.
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