NEl 2024, in Italy, were estimated 390,100 new cancer diagnoses, of which the 10% attributable to a hereditary syndrome (Data aiom). That the tumor may be part of his family history It is a doubt, or rather a fear, which can concern many people, above all When more cases of neoplasms have occurred in the family.
But what is really meant when it comes to hereditary tumors? «Today we know that There is a genetic inheritance for some neoplasms – explains the Professor Sabrina Giglio, director of the Medical Genetics of the IRCCS San Raffaele Hospital. – this means that There are genetic variants (mutations) Which can be transmitted and that, rather than causing a tumor directly, increase their risk. Most notes are those of the genes BRCA1 and BRCA2of which there was very much above all after the case of actress Angelina Jolie. But they are not the only ones: there are others in other genes, also associated with a high risk of developing a tumor “.
The predisposition is inherited, not the tumor
«However, it is important to clarify that, even if we talk about hereditary tumors, In reality, the disease is not inherited but a certain predisposition, that is to say a series of genetic characteristics that can favor its development – The expert continues. – This It does not mean that those who own them will get sick with certainty, but that their risk is higher than the rest of the population. For this reason, at the San Raffaele hospital in Milan, for a couple of years now, he has been born Genosthe center of preventive and predictive personalized medicine that thanks to Multi-specialist screening, dedicated visits and advanced diagnostic tests, It builds personalized prevention paths ».
When are genetic tests useful?
Today the CGenetic onsurence can be requested with the National Health Service If they are present specific criteria. In general, it can be useful to undergo a genetic test If one or more cases have occurred in the family also of different types of cancer in age not advancedif the same type of tumor presented itself in several family members, when bilateral breast cancer is diagnosed, if a Tumor has involved multiple organs Or even when a single case of tumor at a relatively young age is presented, for example between the third and fifth decade of life. “You have to keep always present that the test does not give a diagnosis of cancer – Professor Giglio still underlines. – Evaluate A risk of oncological predisposition must not scare: on the contrary, it allows you to plan targeted prevention strategies, cOme early surveillance programs or health protection interventions. The possibility of making a genetic tumor prevention test It is one of the great achievements of modern medicine, because knowing he has a predisposition allows us to Fighting the disease with more awareness and effectiveness. Even when it comes to cancer ».
Genetic tests covered by the National Health System
As Airc also reports, before carrying out the exams it is It is essential to rely on a geneticist doctor expert to understand if it is really useful and to receive All information necessary for a conscious consent. After a careful anamnesis of the person and its characteristics, The specialist will be able to establish whether and which geniuses possibly analyze and indicate a laboratory accredited with the National Health Service.
If the outcome of the exams is positive, For some tumors, specific surveillance programs have already been preparedwith periodic visits and instrumental tests to detect any signs of cancer as soon as possible. For example, since 2012 several Italian regions have provided for the use of annual breast magnetic resonance imaging in women carved in variants of the BRCA genes.
Genetic tests: a prevention weapon even in the absence of familiarity?
If in the presence of familiarity the genetic test is today strongly recommended, it can represent one prevention strategy useful for everyone, Even for those who have no cases in the family?
“Certainly. The test can represent a useful prevention tool even in the absence of familiarity – explains Professor Giglio. – Not all genetic conditions occur evidently in family history: Some may emerge only in particular environmental contexts or a certain age. Just evaluating the family member, therefore, is not enough for a truly complete and effective prevention ».
Reading DNA means reading health
«What is needed today is a change of perspective – continues Professor Giglio. – Knowing that you have a preparation gene can frighten, because it means having a higher risk of getting sick. But Reading DNA does not mean just “discovering the disease”: it means above all decipher health, understand how to protect it and keep it over time. There is often talk of precision and personalized medicinean approach indicating a precise road to follow: Learn to take care of ourselves before a disease presents itself. And in this, the interpretation of DNA today represents fundamental help ».
Genetic tests: the importance of contacting only expert staff
In order for the genetic test to represent a conscious oncological prevention weapon, however it is necessary Always and always contact expert staff and specialized centers.
«Today the genetic tests are also sold online – underlines Professor Giglio – it is instead necessary to rely on specialized centers and expert staff who know how to read the genome and transform it into useful information to make prevention, also on the basis of the clinical history of the individual patient. Identifying those silent and potentially significant risks within the DNA which can lead to a particular pathology. Based on the results obtained, the clinical geneticist can then direct the patient, in a personalized and specific way, to a possible complete evaluation through other screenings. Only in these conditions can we speak of active and targeted prevention».
Genetic tests and oncological prevention
Will genetic tests therefore become an accessible and recommended strategy in the future in the field of oncological prevention? «We are definitely going in that direction – concludes Professor Giglio – also at the level of prices, more and more sustainable. Today we know that Not only is it possible but it is also necessary to face the prevention of tumors in a conscious way, acting in advance. In this perspective, we will be able to apply precision medicine in a truly personalized waynot only for tumors but also for all other disease prevention strategies, offering everyone the way to a future of health and well -being ».