Cargando…

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

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 (FNM...

Descripción completa

Detalles Bibliográficos
Autores principales: Miasaki, Fabíola Yukiko, Fuziwara, Cesar Seigi, de Carvalho, Gisah Amaral, Kimura, Edna Teruko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698903/
https://www.ncbi.nlm.nih.gov/pubmed/33218058
http://dx.doi.org/10.3390/genes11111364
_version_ 1783615932427403264
author Miasaki, Fabíola Yukiko
Fuziwara, Cesar Seigi
de Carvalho, Gisah Amaral
Kimura, Edna Teruko
author_facet Miasaki, Fabíola Yukiko
Fuziwara, Cesar Seigi
de Carvalho, Gisah Amaral
Kimura, Edna Teruko
author_sort Miasaki, Fabíola Yukiko
collection PubMed
description 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.
format Online
Article
Text
id pubmed-7698903
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-76989032020-11-29 Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer Miasaki, Fabíola Yukiko Fuziwara, Cesar Seigi de Carvalho, Gisah Amaral Kimura, Edna Teruko Genes (Basel) Review 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. MDPI 2020-11-18 /pmc/articles/PMC7698903/ /pubmed/33218058 http://dx.doi.org/10.3390/genes11111364 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Miasaki, Fabíola Yukiko
Fuziwara, Cesar Seigi
de Carvalho, Gisah Amaral
Kimura, Edna Teruko
Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title_full Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title_fullStr Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title_full_unstemmed Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title_short Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer
title_sort genetic mutations and variants in the susceptibility of familial non-medullary thyroid cancer
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7698903/
https://www.ncbi.nlm.nih.gov/pubmed/33218058
http://dx.doi.org/10.3390/genes11111364
work_keys_str_mv AT miasakifabiolayukiko geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer
AT fuziwaracesarseigi geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer
AT decarvalhogisahamaral geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer
AT kimuraednateruko geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer