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...
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2020-11-01
|
| Series: | Genes |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2073-4425/11/11/1364 |
| _version_ | 1797547546520846336 |
|---|---|
| author | Fabíola Yukiko Miasaki Cesar Seigi Fuziwara Gisah Amaral de Carvalho Edna Teruko Kimura |
| author_facet | Fabíola Yukiko Miasaki Cesar Seigi Fuziwara Gisah Amaral de Carvalho Edna Teruko Kimura |
| author_sort | Fabíola Yukiko Miasaki |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-10T14:45:36Z |
| format | Article |
| id | doaj.art-2e3f9f76a4d141c79374e850098385a8 |
| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-10T14:45:36Z |
| publishDate | 2020-11-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-2e3f9f76a4d141c79374e850098385a82023-11-20T21:24:16ZengMDPI AGGenes2073-44252020-11-011111136410.3390/genes11111364Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid CancerFabíola Yukiko Miasaki0Cesar Seigi Fuziwara1Gisah Amaral de Carvalho2Edna Teruko Kimura3Department of Endocrinology and Metabolism (SEMPR), Hospital de Clínicas, Federal University of Paraná, Curitiba 80030-110, BrazilDepartment of Cell and Developmental Biology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-000, BrazilDepartment of Endocrinology and Metabolism (SEMPR), Hospital de Clínicas, Federal University of Paraná, Curitiba 80030-110, BrazilDepartment of Cell and Developmental Biology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-000, BrazilThyroid 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.https://www.mdpi.com/2073-4425/11/11/1364thyroid cancerthyroid neoplasmsgenetic predisposition to diseasegenetic variants |
| spellingShingle | Fabíola Yukiko Miasaki Cesar Seigi Fuziwara Gisah Amaral de Carvalho Edna Teruko Kimura Genetic Mutations and Variants in the Susceptibility of Familial Non-Medullary Thyroid Cancer Genes thyroid cancer thyroid neoplasms genetic predisposition to disease genetic variants |
| 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 | thyroid cancer thyroid neoplasms genetic predisposition to disease genetic variants |
| url | https://www.mdpi.com/2073-4425/11/11/1364 |
| work_keys_str_mv | AT fabiolayukikomiasaki geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer AT cesarseigifuziwara geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer AT gisahamaraldecarvalho geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer AT ednaterukokimura geneticmutationsandvariantsinthesusceptibilityoffamilialnonmedullarythyroidcancer |