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Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

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.

SUBMITTER: Miasaki FY

PROVIDER: S-EPMC7698903 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

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Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer.

Miasaki Fabíola Yukiko FY Fuziwara Cesar Seigi CS Carvalho Gisah Amaral de GA Kimura Edna Teruko ET

Genes 20201118 11

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 facto ...[more]

PMID: 33218058

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Targeted DNA Sequencing Detects Mutations Related to Susceptibility among Familial Non-medullary Thyroid Cancer.

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