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Hereditary cancers and genetic risk: only one in 10 carriers identified

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Hereditary cancers and genetic risk: only one in 10 carriers identified

Be specially supervised so that you can be treated as effectively as possible. They are the carriers of genetic alterations who are often not identified, thus losing the opportunity to access precision medicine which today allows good chances of recovering health. Unfortunately, today only one in 10 carriers of genetic alterations, despite the high risk of onset of neoplasms, is actually identified, among the more than half a million estimated in Italy. The Mutagens Foundation aims to change the situation presented in a media tutorial organized at the Istituto Superiore di Sanità in Rome.

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Hereditary tumors in Italy

In our country, on the basis of recent international studies that estimate their share of up to 15-17% of the overall figure, hereditary cancers could be about 60,000 of the 377,000 total cases per year. In about 50,000-100,000 carrier families, the members risk developing cancer, to a varying extent from 2 to 40 times more than normal, but they are not aware of it. It is therefore essential to intercept these people and these families, to insert them in surveillance paths, to facilitate access to genetic and genomic tests, removing the existing technological and above all administrative and economic obstacles.

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Treat and supervise

Intercepting these patients who have already been diagnosed allows them to be treated in the most effective way thanks to precision medicine and immunotherapy, to prevent the reappearance of the disease in the organ already affected and the development of the tumor in the other organs at risk. “Mutagens was born on the initiative of a group of people with hereditary syndromes, to address both those who have already developed a tumor due to a genetic alteration, and those who are still healthy but could get sick in the future”, he explains Except Testa, president of the Mutagens Foundation. “We help the first to treat themselves as effectively as possible, thanks to precision medicine and immunotherapy, and to prevent the reappearance of the disease and the development of new neoplasms; we insert the latter into intensified surveillance paths to improve secondary prevention and, where possible, primary prevention “.

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The most common hereditary syndromes

The most common syndromes are Lynch syndrome, which affects about 215,000 people in Italy, and that of breast and ovarian cancer (HBOC-BRCA), with about 150,000 carriers. For the other rare hereditary syndromes – about fifty have been identified so far – another 135,000 people are estimated. Among the cancers that most frequently present constitutional (i.e. heritable) pathogenetic variants are those of the breast (female and male), ovary, stomach, colorectal, endometrium, prostate, bladder, pancreas and melanoma.

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A reference network

To consolidate the protocols of diagnosis, therapy and prevention, it is essential to create a network of specialized reference centers. “We have recently become a Foundation – continues Testa -, an important first milestone that we are proud to have reached, because it will allow us to support our projects and research in a more agile and solid way, for the good of all the people we deal with. . In recent months we have made important alliances, both in the purely scientific sector and in the clinical and voluntary sector. We have started an agreement with Alleanza Contro il Cancro, an institutional network that allows us to support specific cancer research on hereditary syndromes, a memorandum of understanding with the Italian Association of Tumor Family and Inheritance (Aifet), created precisely to deal with this issue, and we bring our contribution within the Italian Federation of Voluntary Associations in Oncology (Favo) to which we are affiliated, because people and their needs are our primary interest “.

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Promote the search for rare conditions

As a national cancer research network, the Alliance Against Cancer (ACC) is at the forefront of all the more ‘rare’ conditions, which often do not enjoy the attention they deserve. “Neoplasms from hereditary genetic alterations – he declares Ruggero De Maria, ACC president and Director of General Pathology at the Catholic University of Rome – make up a significant part of all cancers in Italy, a higher number than previously believed. Promoting research is essential to safeguard the health of all carriers and their families, who are inevitably 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 ”.

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Prevention in healthy subjects

An important role is also played by the Italian Federation of Voluntary Associations in Oncology (Favo): “Secondary prevention is essential for all carriers of hereditary syndrome, in particular for healthy people – says Elisabetta Iannelli, general secretary Favo and honorary participant in the Mutagens Foundation. “Through punctual checks, in fact, it is possible to make an early diagnosis, identify early cancers and improve the chances of treatment and recovery. 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. We share Mutagens’ goals and we want as many people as possible to be aware of the existence of hereditary syndromes: only in this way will screenings and the dissemination of genetic and genomic tests increase, to be carried out on medical approval when there is a suspicion of being a carrier. of an alteration in one’s DNA “.

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A team of specialists

To complete the ‘team’ that contributes to the Mutagens Foundation is the Italian Association of Family and Inheritance of Tumors (Aifet) made up of a group of multidisciplinary specialists including surgeons, senologists, gastroenterologists, geneticists, molecular biologists, pathologists, oncologists, psychologists, etc. “Aifet – he adds Cristina Oliani, president of the association and Uoc director of Oncology Aulss 5 Polesana Veneto Region – brings together the interest of all the specialists involved in the path of research, diagnosis, targeted prevention and treatment of hereditary-familial tumors and acts as a reference point for the training of professionals who intend to acquire skills in this sector. Mutagens and Aifet will jointly carry out projects aimed at improving the care pathways and information on inheritance-family syndromes, with the precious collaboration of Favo. They will also undertake to promote a national network of Oncogenetics Centers and to design and implement a quality certification process for the operating Centers in the field of cancer susceptibility syndromes that create courses dedicated to subjects with high cancer risk “.

The strategy of risk reduction

The challenge is to progressively extend screening with genomic and genetic tests to the largest number of people in whom the presence of a genetic alteration is considered probable. “The execution of the examination at the time of diagnosis – he says Pier Giuseppe Pelicci, scientific secretary of the Alliance Against Cancer and Ieo Scientific Co-director – allows to identify somatic mutations and possibly constitutional pathogenetic variants in patients affected by neoplasia, thus establishing an adequate therapeutic path and, in turn, to promptly identify also the family members with the same pathogenetic variant, before they develop a carcinoma related to the hereditary syndrome. Thus it is possible to implement effective risk reduction strategies, which, for example in breast and ovarian cancers, range from intensive surveillance to prophylactic surgery “. Among other things, people with constitutional pathogenetic variants can offer an extraordinary contribution to research: “It is they, in fact, who ‘host’ the information we need to better understand this phenomenon and find valid solutions and increasingly targeted therapies ”Concludes Pelicci.

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