Abstract

Thyroid cancer, a cancerous tumor or growth located within the thyroid gland, is the most common endocrine cancer. It is one of the few cancers whereby incidence rates have increased in recent years. It occurs in all age groups, from children through to seniors. Most studies are focused on dissecting its genetic basis, since our current knowledge of the genetic background of the different forms of thyroid cancer is far from complete, which poses a challenge for diagnosis and prognosis of the disease. In this review, we describe prevailing advances and update our understanding of the molecular genetics of thyroid cancer, focusing on the main genes related with the pathology, including the different noncoding RNAs associated with the disease.

Highlights

  • Thyroid cancer is the most common endocrine cancer, with an increasing overall incidence in recent decades of about two fold in the last 25 years and accounting for 2% of all cancers [1]

  • This review summarizes the current knowledge about molecular bases of thyroid cancer: from genes to ncRNAs, to provide the reader an overview of the main genetic and epigenetic factors that can influence the develop of thyroid cancer

  • Further studies are needed, these outcomes indicate that TERT is a new oncogene in thyroid cancer and promoter mutations may be promising in clinical management of thyroid cancer, especially in combination with BRAF V600E or RAS mutations [87]

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Summary

Introduction

Thyroid cancer is the most common endocrine cancer, with an increasing overall incidence in recent decades of about two fold in the last 25 years and accounting for 2% of all cancers [1]. Survival rates depend on many factors, such as the specific type of thyroid cancer and stage of disease [2]. Non-medullary thyroid cancer (NMTC) originates from follicular cells and is responsible for ~95% of all the cases. NMTC is divided into four groups ( known as well differentiated thyroid cancer): (1) papillary thyroid cancer (PTC), which represents more than 85% of cases, (2) follicular thyroid cancer Only ~5% of cases of thyroid cancer are derived from parafollicular cells and this type is named medullary thyroid cancer (MTC) [4,10]. About 75% of all MTCs are believed to be sporadic (sMTC), and the remaining 25% correspond to inherited cancer syndromes known as multiple endocrine neoplasia type 2 (MEN2). This review summarizes the current knowledge about molecular bases of thyroid cancer: from genes to ncRNAs, to provide the reader an overview of the main genetic and epigenetic factors that can influence the develop of thyroid cancer

Molecular Genetics of Thyroid Cancer
The RET Proto-Oncogene Role
RET Gene Rearrangements
Other Somatic RET Mutations
Germline RET Mutations
Susceptibility Factors
PAX8-PPARG
Other Genes
Findings
Conclusions and Future Perspectives

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