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

被引：11

作者：

Miasaki, Fabiola Yukiko ^{[1
]}

Fuziwara, Cesar Seigi ^{[2
]}

Carvalho, Gisah Amaral de ^{[1
]}

Kimura, Edna Teruko ^{[2
]}

机构：

[1] Univ Fed Parana, Dept Endocrinol & Metab SEMPR, Hosp Clin, BR-80030110 Curitiba, Parana, Brazil

[2] Univ Sao Paulo, Inst Biomed Sci, Dept Cell & Dev Biol, BR-05508000 Sao Paulo, Brazil

来源：

GENES | 2020年 / 11卷 / 11期

关键词：

thyroid cancer; thyroid neoplasms; genetic predisposition to disease; genetic variants; CRIBRIFORM-MORULAR VARIANT; TUMOR-SUPPRESSOR GENE; MULTINODULAR GOITER; GERMLINE MUTATION; DICER1; MUTATIONS; COMMON VARIANTS; WERNER-SYNDROME; CLINICAL MANAGEMENT; LINKAGE ANALYSIS; HABP2; MUTATION;

D O I：

10.3390/genes11111364

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：1 / 21

页数：21

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