CIVILICA We Respect the Science
Publisher of Iranian Journals and Conference Proceedings
Paper
title

Hotspot Mutational Spectrum of RET Proto-Oncogene in Hereditary Medullary Thyroid Carcinoma

Credit to Download: 0 | Page Numbers 2 | Abstract Views: 718
Year: 2014
COI code: CIGS13_0734
Paper Language: English

How to Download This Paper

For Downloading the Fulltext of CIVILICA papers please visit the orginal Persian Section of website.

Authors Hotspot Mutational Spectrum of RET Proto-Oncogene in Hereditary Medullary Thyroid Carcinoma

  Marjan Zarif Yeganeh - Cellular & Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  Sara Sheikholeslami - Cellular & Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  Fereidoun Azizi - Endocrine Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences,Tehran, Iran
  Mehdi Hedayati - Cellular & Molecular Research Center, Research Institute for Endocrine Sciences, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Abstract:

Introduction: Thyroid carcinoma is the most common endocrine tumor. Medullary thyroid carcinoma (MTC) accounts for 5-10% of all thyroid cancer. It occurs in both hereditary (25%, hMTC) and sporadic (75%, sMTC) forms which are associated with RET proto-oncogene gain of function mutations.Aim: The goal of this study was to identify hot spot mutations of RET in hMTC patients. Material and methods: This study included 39FMTC, 8MEN2A, 3MEN2B, 4pheochromocytoma (54 index cases), and 80 relatives (totally 134 individuals). Genomic DNA was extracted by Salting Out/Proteinase K method. Mutation detection forsix exons of RET (10, 11, 13, 14, 15, 16) were carried out using PCR and direct DNA sequencing.Results: A total of 15 different types of RET missense mutations were identified in 43 patients and 19 relatives. All of the MEN2A patients had mutations in codon 634, including p.C634Y (four patients), p.C634R (two patients), p.C634S (two patients). In FMTCs, the most common hot spot mutations were in exon 10 (p.C611Y, three patients) andexon 11 (p.C634Y, six patients). Only one mutation was detected in exon 13 (p.L790F) and exon 15 (p.R886Q) in FMTC.The p.M918T mutation was found in all MEN2B patients. The G691S/S904S haplotype was identified in 34 patients and 37relatives. Conclusion: According to this study, exons 11 and 10 were the most frequently mutated exons of RET in hMTC patients, in our population. Apparently, there is different mutational pattern in this gene which could be considered in the RET mutation screening for MTC patients and their families in the population.

Keywords:

Medullary thyroid cancer, RET proto-oncogene, Germline mutation, hot spot

Perma Link

https://www.civilica.com/Paper-CIGS13-CIGS13_0734.html
COI code: CIGS13_0734

how to cite to this paper:

If you want to refer to this article in your research, you can easily use the following in the resources and references section:
Zarif Yeganeh, Marjan; Sara Sheikholeslami; Fereidoun Azizi & Mehdi Hedayati, 2014, Hotspot Mutational Spectrum of RET Proto-Oncogene in Hereditary Medullary Thyroid Carcinoma, 12th Congress of Iranian Genetics Society, تهران, انجمن ژنتيك ايران, https://www.civilica.com/Paper-CIGS13-CIGS13_0734.htmlInside the text, wherever referred to or an achievement of this article is mentioned, after mentioning the article, inside the parental, the following specifications are written.
First Time: (Zarif Yeganeh, Marjan; Sara Sheikholeslami; Fereidoun Azizi & Mehdi Hedayati, 2014)
Second and more: (Zarif Yeganeh; Sheikholeslami; Azizi & Hedayati, 2014)
For a complete overview of how to citation please review the following CIVILICA Guide (Citation)

Scientometrics

The University/Research Center Information:
Type: state university
Paper No.: 16753
in University Ranking and Scientometrics the Iranian universities and research centers are evaluated based on scientific papers.

Research Info Management

Export Citation info of this paper to research management softwares

New Related Papers

Iran Scientific Advertisment Netword

Share this paper

WHAT IS COI?

COI is a national code dedicated to all Iranian Conference and Journal Papers. the COI of each paper can be verified online.