The latest estimates indicate about 60 thousand annual cases of neoplasms linked to hereditary syndromes out of a total of 377 thousand new diagnoses. Knowing about DNA mutations is useful for healthy carriers and for those already sick with cancer
Most people with a close family member (parent, brother or sister, but also grandparents or uncles) who have had a tumor are in no greater danger than the rest of the population of getting sick: less than 2% of individuals carrying genetic mutations with syndromes hereditary at risk of developing cancers. According to recent statistics, however, this percentage could be much higher because as the DNA alterations responsible for various types of cancer are better discovered and understood, the proportion of cases attributable to genetics also increases. However, today in Italy only one in 10 carriers of genetic alterationsdespite the high risk of developing neoplasms, it is actually identified.
In Italy about 60 thousand hereditary cancers every year
To draw attention to this topic the Mutagens Foundation, born with the aim of treating patients already diagnosed in the most effective way thanks to precision medicine and immunotherapy, preventing the reappearance of the disease in the already affected organ and the development of cancer in the other organs at risk. In our country, on the basis of recent international studies, hereditary cancers could be about 60 thousand of the 377 thousand new cases per yeartherefore more or less 15-17% of the total figure – he says Except Testa, president of the Mutagens Foundation, created on the initiative of a group of people with hereditary syndromes -. The Foundation is aimed both at those who have already developed a tumor due to a genetic alteration, and at those who are still healthy but could become ill in the future. It is essential to create a network of specialized centers of reference, to consolidate the protocols of diagnosis, therapy and prevention. According to the data presented during a meeting held in recent days at the Higher Institute of Health in Rome, in about 50-100 thousand Italian families carrying hereditary mutations, the members risk developing a neoplasm in a variable measure from 2 to 40 times more than the norm, but they are not aware of it. therefore it is essential to intercept these people and these families, to insert them in surveillance paths, to favor access to genetic and genomic tests, removing the existing technological and above all administrative and economic obstacles, adds Testa.
What changes for those with the mutation
The most common hereditary syndromes predisposing to tumors are that of Lynchwhich involves about 215 thousand people in Italy, and that of breast and ovarian cancer (HBOC-BRCA), with about 150 thousand porters. For the other rare hereditary syndromes (about fifty have been identified so far), an estimated 135 thousand people are estimated. Among the tumors that most frequently present inheritable pathogenetic variants are those of breast (feminine and masculine), ovary, stomach, colorectal, endometrium, prostate, bladder, pancreas, and melanoma. Intercepting a healthy carrier (i.e. a person who was positive for the genetic test, but not suffering from cancer) allows us to offer them targeted prevention strategies, with a surveillance program that aims to identify the possible onset of a neoplasm at a very early stage. Knowing the hereditary mutations in those already suffering from cancer, on the other hand, serves to cure oneself as effectively as possible, thanks to precision medicine and immunotherapyto prevent the reappearance of the disease and the development of new neoplasms in the best possible way.
Genetic counseling and psychological support
The inheritance-family predisposition and the related cancer risk are established during a specialist visit, which takes the name of oncogenetic counseling. The fundamental genetic counseling – underlines Elisabetta IannelliSecretary General of the Italian Federation of Voluntary Associations in Oncology -: makes it possible identify early cancers and improve the chances of treatment and healing. For carriers of genetic alteration, it is essential to take advantage of support, including psychological support, both before the disease manifests itself and during the treatment phase. These are very delicate situations, which must be faced with the help of specialists and the support of the numerous patient associations present in the area. The challenge progressively extend screening with genomic and genetic tests to the largest number of people in whom the presence of a DNA alteration is considered probable. We want as many people as possible to become aware of the existence of hereditary syndromes – continues Iannelli -: only in this way will screening and the spread of genetic and genomic teststo be carried out on medical approval when there is a suspicion of being carriers of an alteration in one’s DNA.
Specialized centers and multidisciplinary teams
As a National Cancer Research Network, we are at the forefront of all the rarest conditions, which often do not enjoy the attention they deserve – he declares Maria Ruggero, president of the Alliance against cancer and director of general pathology at the Catholic University of Rome -. Hereditary genetic alteration neoplasms constitute a significant part of all cancers in Italy, a higher number than previously believed. Promote fundamental research to safeguard the health of all carriers and their families at risk. Through the collaboration with Mutagens we want to offer them the opportunity for a more peaceful future to fight and where possible prevent cancer. Mutagens has also signed a memorandum of understanding with the Italian association of hereditary and cancer familiarities (Aifet), with the aim of carrying out projects aimed at improving the care pathways and information on hereditary-familial syndromes, with the collaboration of Favo. We set ourselves as a reference point for the training of professionals who intend to acquire skills in this sector – he says Cristina Oliani, president of Aifet, which brings together all the specialists involved in the research, diagnosis, targeted prevention and treatment of hereditary-familial tumors -. It serves a multidisciplinary team of specialists (surgeons, senologists, gastroenterologists, geneticists, molecular biologists, pathologists, oncologists, psychologists) and serves a national network of Oncogenetics Centers, with a quality certification process for the operational centers in the field of cancer susceptibility syndromes that create courses dedicated to subjects with high oncological risk – concludes Oliani, director of Oncology Aulss 5 Polesana Regione Veneto -. A process that will be designed by Aifet for the clinician’s perspective, with the collaboration of Mutagens for the patients’ perspective.
April 15, 2022 (change April 15, 2022 | 11:37)
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