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Hereditary Cancers and Genetics

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Abstract

The study of hereditary syndromes is fundamentally based on the finding and identification of susceptibility genes underlying the pathology. Although hereditary tumors account for only a small fraction of all the tumors, the knowledge of underlying genetics changed the clinical management of affected patients and their families, also providing important information on the molecular mechanisms involved in the development of sporadic tumors. In the subjects who inherit a germline mutation, all the cells of the organism are carriers of that mutation, predisposing such subject to develop neoplasm more easily and earlier compared to the general population. The identification of individuals with a hereditary risk of cancer is based on an accurate reconstruction of their personal and family clinical history. Oncogenes and tumor suppressor genes are generally considered genes whose alterations are involved in the tumor onset and progression, promoting an abnormal cell growth and division. Hereditary predisposition syndromes are associated with germline mutations which determine the activation of oncogenes or inactivation of tumor suppressor genes. Tumor suppressor genes responsible for the heredofamilial cancer syndromes can be schematically divided into three main categories: gatekeepers, caretakers, and landscapers. Gatekeeper genes act by directly controlling cell growth, thus inhibiting proliferation, and leading to the apoptosis. Caretakers are responsible for maintaining genomic stability, by reducing the mutation rates of different genes involved in DNA repair, including gatekeepers and oncogenes.

In this chapter we will define the key concepts related to the heredofamilial tumors, briefly describing the major hereditary tumor syndromes associated with specific susceptibility genes.

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  1. Daniele Fanale and Laura Ottini should be considered equally co-first authors.

  2. Ettore Domenico Capoluongo and Viviana Bazan should be considered equally co-last authors.

Authors and Affiliations

  1. Department of Surgical, Oncological and Oral Sciences, University of Palermo, Palermo, Italy

    Daniele Fanale, Valerio Gristina & Antonio Russo

  2. Department of Surgical, Oncological and Oral Sciences, University of Palermo, Palermo, Italy

    Valentina Calò

  3. Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy

    Laura Ottini

  4. Department of Biotechnological and Applied Clinical Sciences, University of L’Aquila, L’Aquila, Italy

    Enrico Ricevuto

  5. Oncology Territorial Care, S. Salvatore Hospital, Oncology Network ASL1 Abruzzo, University of L’Aquila, L’Aquila, Italy

    Enrico Ricevuto

  6. Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Palermo, Italy

    Lorena Incorvaia

  7. Department of Biomedicine, Neuroscience and Advanced Diagnostics (Bi.N.D.), University of Palermo, Palermo, Italy

    Viviana Bazan

  8. Department of Molecular Medicine and Medical Biotechnology, Federico II University-CEINGE, Advanced Biotechnology, Naples, Italy

    Ettore Domenico Capoluongo

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Editors and Affiliations

  1. Department of Surgical, Oncological and Oral Sciences, University of Palermo, Palermo, Italy

    Antonio Russo

  2. Oncology Department, University of Antwerp, Edegem, Belgium

    Marc Peeters

  3. Department of Biomedicine, Neuroscience and Advanced Diagnostics, University of Palermo, Palermo, Italy

    Lorena Incorvaia

  4. Center for Thoracic Oncology, Tisch Cancer Institute, Mount Sinai System & Icahn School of Medicine, Mount Sinai, NY, USA

    Christian Rolfo

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Fanale, D. et al. (2021). Hereditary Cancers and Genetics. In: Russo, A., Peeters, M., Incorvaia, L., Rolfo, C. (eds) Practical Medical Oncology Textbook. UNIPA Springer Series. Springer, Cham. https://doi.org/10.1007/978-3-030-56051-5_5

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