Jolie, Balti and the others: BRCA mutations and the choice of surgery to reduce the risk of getting sick
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It was the 90s when the American geneticist Mary-Claire King discovered the link between a gene – BRCA1 – and the hereditary forms of breast and ovarian cancer. That discovery started a revolution that has led to “deciphering” the genetics of various tumors and thanks to which today many people can know if they are at high risk of developing them and, if they want, take action to prevent them (when possible) – as they chose to do Bianca Balti and before that Angelina Jolieas well as thousands of other women – or follow a “special” screening program to diagnose them as early as possible.
What are BRCA genes
The acronym BRCA (pronounced braca) stands for BReast Cancer and indicates two tumor suppressor genes – BRCA1 and BRCA2 – which have the role of repairing DNA when “damage” occurs. However, if mutated, they do not work properly and the repair does not take place correctly. And so the possibility increases that “defective” cells begin to replicate in an uncontrolled way and become cancerous.
This occurs above all in some organs, such as the breast, ovary, prostate, pancreas (although with different probabilities). Mutations in BRCA genes can be inherited – both from the mother and the father – or appear randomly during the course of life. Children of a father or mother with a mutated BRCA gene have a 50% chance of inheriting it.
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How much does the risk increase
As far as breast cancer is concerned, having a BRCA mutation greatly increases the risk: by about 70%. Mutations in the BRCA2 gene, in particular, are also associated with breast cancer in men, while mutations in the BRCA1 gene are associated with particularly aggressive (called triple negative) cancers.
In ovarian cancer, the risk also increases 50-fold (up to 46% for BRCA1 mutations and up to 27% for BRCA2 mutations). It is estimated that up to 10% of breast cancers and up to a quarter of ovarian cancers are due to inherited BRCA mutations.
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Who can take the genetic test and when
Genetic tests are offered (free of charge) first of all to women who have already been diagnosed with breast cancer, if they have precise characteristics (such as young age and familiarity) or ovarian cancer (all). In case of positivity, the possibility of accessing the test should be offered to all his family members (at the cost of the health ticket).
As scientific societies and patient associations point out, however, it is essential that the tests are always offered within an oncogenic consultancy and a path, in order to fully understand the meaning and implications of the test itself, so that everyone can decide consciously.
Mutated healthy women: how to reduce the risk
Today there are three possibilities for healthy people who carry a BRCA mutation. One way is that of prophylactic surgery, which consists in the removal of a healthy organ (or believed to be healthy, ie in which the tumor has not yet been identified), such as the breast, ovaries and fallopian tubes (bilateral adnexectomy).
This option is the only one that drastically reduces the risk of getting sick, although it does not eliminate it. As the aBRCAdabra Association recalls, the decision is not simple and must be matured within a multidisciplinary counseling process in which the psychological aspect is also considered. And after receiving all the correct information.
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Preventive mastectomy and reconstruction
As breast surgeon Alberta Ferrari explains in her blog “Winning Wounds” on L’Espresso, most of the preventive breast operations are “minimally invasive” and try to preserve, when possible, the skin, the areola and the nipple .
The type of intervention depends on the physical characteristics of the woman and on the “technical” choices of the breast team: the reconstruction can be done with a prosthesis (immediate or with an expander, and in this case it involves several stages) or with the patient’s own tissue (reconstruction with autologous tissue, which implies a more complex reconstructive process). This is why it is essential to contact reference centres, in particular the Breast Units. The interventions are offered free of charge by the national health system.
In the case of reconstruction with prostheses, the normal consequences of the post-operative phase are pain and a few weeks of convalescence, if there are no complications. In general, multiple reconstructive surgeries may be needed to achieve an optimal cosmetic result.
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Active surveillance and chemoprevention
Another possibility is active surveillance, which provides for a series of tests to be carried out at regular intervals and which aim to identify a possible tumor when it is still in an early stage. In this regard, it should be emphasized that there are still no national guidelines, and in Italy the regions offer very different and not always free routes.
In general, according to what the aBRCAdabra association reports, from 20 to 24 years of age, a six-monthly or annual clinical visit and an annual breast ultrasound are recommended; from the age of 25 also the annual breast magnetic resonance, 6 months out of phase with respect to the ultrasound; from 35 to 64, the annual mammography is added; from the age of 65, on the other hand, only a six-monthly or annual clinic visit and an annual mammogram. For ovarian cancer, gynecological examination with transvaginal ultrasound is recommended every six months.
The third possibility is that of chemoprevention, i.e. taking a drug therapy for at least 4 years that can reduce the risk of getting sick.
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Mutation-targeted therapies
For those who have already been diagnosed with cancer, knowing whether or not a BRCA mutation is present can change the treatment and, in some cases, the prognosis. In fact, drugs with a molecular target have been developed, called Parp-inhibitors, which have proved to be particularly effective in these patients.
Among the patient associations that can be contacted for information, in addition to aBRCAdabra, we point out Acto Onlus.
The story of the discovery of the BRCA genes is told in the film Decoding Annie Parkerreleased in 2013.
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