The statistics are clear. In Italy they would be More than one million and 250 thousand The people who in their DNA have genetic traces that prepare for the development of hereditary tumors.
But how many really suspect it? And above all, those who underwent the genetic test That allows you to discover this predisposition? The estimates say that more than eight out of ten people, even if in the presence of genetic predisposition to get sick, are not aware of their own risk conditionbecause they were not subjected to the genetic tests necessary to identify it.
How much they weigh and where hereditary tumors occur
“In 2024, in Italy, 390,100 new cancer diagnoses were estimated, about 10% is attributable to a hereditary syndrome”
Saverio Cinieri, president of Fondazione Aiom.
“The most affected organs are made up of the breast, ovary, prostate, pancreas, colon-recto and endometrium. These syndromes they are transmitted within familiesTherefore it is possible to identify them starting from the ‘index case’ of the person already affected by the tumor, and then perform the genetic tests in healthy family members. Pathing of pathogenetics can be offered primary prevention, For example, consisting of the prophylactic surgery of the breast and ovary, whose validity is demonstrated by scientific studies in terms of improving survival and reduction of mortality “.
In this sense, innovation has made available technologies such as NGS (Next Generation Sequencing)tests that can reduce the costs and times of execution of genetic analyzes and to analyze large portions of the DNA. Despite these progress, the situation is still fragmented in our country, because only a few regions have approved diagnostic-therapeutic welfare (PDTA) paths for people at high-family-family risk. To inform and sensitize the entire population about these forms of cancer and on the need to expand medical checks to monitor them, the Aiom Foundation has launched the project “Heir-family tumors“.
Because it is important to take more tests
Trying to make a picture, it is estimated that in Italy there are 387,000 citizens of pathogenetic variants in the BRCA1-BRCA2 genes, 625,000 with variants in other genes of the approval recombination system (HR), 215,000 with defects in the genes of the Mixmatch Repair (MMRD), 25,000 with other rarer syndromes (Li Fraumeni, Cowden, Fap, Vhl, Vhl, VHL, VHL, Peutz-Jeghers, etc.).
“Ovarian cancer has represented the model for the implementation of Genetic tests for therapeutic purposesallowing to define individual sensitivity to targeted therapy with Parp inhibitors “
Cinieri continues.
“Today, genetic-molecular analyzes are an integral part of the care path of neoplasms not only of the ovary, but also of the breast and prostate. An important consequence of the predictive genetic tests for response to therapy is represented by the possibility of intercept family members With germ genetic variants, the so -called pathogenetic variants, present from the birth and cause of increased predisposition to the development of tumors.
The expansion of the offer of genetic tests must be seen positively, since it is possible, in theory, to reach a greater number of people at risk that can benefit from personalized prevention strategies “
Note Cinieri.
“However, today, they are still present different obstacles, especially of an organizational nature. In fact, the PDTAs for citizens with high-family-family risk are not present in all regions “.
How to do the tests and manage the results
The presence of professionals with integrated skills, in multidisciplinary working groups, is essential in all the phases of the diagnostic, estimate and possibly therapeutic path of the person bearing a hereditary syndrome. Taking charge of those who undergo the test begins with sending to Oncological genetic consultancyto evaluate the risk profile and the eligibility for the genetic test. The result of the exam allows you to estimate the probability of developing cancer and starting the person taking charge of a personalized risk management program. Oncological genetic consultancy, therefore, is a multifhasic process, within a multidisciplinary context.
