Abstract
More attention has been paid to the inherited nature of malignant tumors in children and adolescents, lately. Children with rare tumors may be at an increased risk of cancer because of a known cancer predisposition syndrome as Li-Fraumeni syndrome in case of adrenocortical tumors or multiple endocrine neoplasia (MEN2) in case of medullary thyroid tumors. Such cancer syndromes are commonly suspected in case of multiple malignancies within a family or a patient himself and/or in case of an adult-type tumor in children or adolescents. Interestingly though, it could be shown that strong predisposing mutations like BRCA1 and BRCA2, leading to individual risks of breast cancer of around 60% by age 70, together account for less than 5% of overall breast cancer incidence (Ponder 2001). Also, pediatric oncologists are not trained to pick up minor signs of cancer susceptibility, and therefore, syndromes might be overlooked. As discussed further down, it could be shown that the prevalence of minor and major morphological abnormalities is higher in patients with childhood cancers compared with controls – once more stressing the importance of constitutional genetic defects in pediatric oncogenesis and maybe pointing to so far unknown predisposition syndromes (Merks et al. 2008). This article gives an overview of mechanisms leading to cancer susceptibility, of known cancer syndromes (Table 6.1), and of the diagnostic approach and management, which can be followed in case of a suspected genetic predisposition for cancer.
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Merks, J.H.M., Brecht, I.B. (2012). Genetic Predisposition and Genetic Susceptibility. In: Schneider, D., Brecht, I., Olson, T., Ferrari, A. (eds) Rare Tumors In Children and Adolescents. Pediatric Oncology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-04197-6_6
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