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Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
Fabíola Yukiko Miasaki1, Cesar Seigi Fuziwara2, Gisah Amaral de Carvalho1
1Department of Endocrinology and Metabolism (SEMPR), Hospital de Clínicas, Federal University of Paraná, Curitiba 80030-110, Brazil.
Abstract:
Thyroid cancer is the most frequent endocrine malignancy with the majority of cases derived from thyroid follicular cells and caused by sporadic mutations. However, when at least two or more first degree relatives present thyroid cancer, it is classified as familial non-medullary thyroid cancer (FNMTC) that may comprise 3-9% of all thyroid cancer. In this context, 5% of FNMTC are related to hereditary syndromes such as Cowden and Werner Syndromes, displaying specific genetic predisposition factors. On the other hand, the other 95% of cases are classified as non-syndromic FNMTC. Over the last 20 years, several candidate genes emerged in different studies of families worldwide. Nevertheless, the identification of a prevalent polymorphism or germinative mutation has not progressed in FNMTC. In this work, an overview of genetic alteration related to syndromic and non-syndromic FNMTC is presented.
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