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Implication of molecular genetic examination in a three generational family with multiple endocrine neoplasia type 2A


Authors: V. Holub 1;  Š. Dvořáková 1;  E. Václavíková 1;  A. Ryška 2;  J. Čáp 3;  P. Vlček 4;  J. Dušková 5;  D. Kodetová 6;  Z. Novák 1;  B. Bendlová 1
Authors‘ workplace: Endokrinologický ústav Ředitel: doc. MUDr Vojtěch Hainer, CSc. 1;  Fingerlandův ústav patologie, LF UK a FN Hradec Králové Přednosta: doc. MUDr. Aleš Ryška, PhD. 2;  II. interní klinika LF UK a FN Hradec Králové Přednosta: prof. MUDr. Jaroslav Malý, CSc. 3;  Klinika nukleární medicíny a endokrinologie 2. LF UK a FN Motol Přednosta: doc. MUDr. Petr Vlček, CSc. 4;  Ústav patologie 1. LF a VFN Praha Přednosta: prof. MUDr. Ctibor Povýšil, DrSc. 5;  Ústav patologie a molekulární medicíny, 2. LF UK a FN Motol Přednosta: prof. MUDr. Roman Kodet, CSc. 6
Published in: Prakt. Lék. 2007; 87(3): 157-159
Category: Of different specialties

Overview

Medullary thyroid cancer (MTC) is a rare form of thyroid cancer accounting for about 10 % of all thyroid malignancies. It occurs mostly as a sporadic tumour or in association with autosomal dominant inherited cancer syndromes - multiple endocrine neoplasia (MEN) types 2A and 2B and familial MTC. Germline mutations in the RET proto-oncogene were found in most of the familial cases. Here we describe molecular genetic detection in one MEN2A family with three generations, where we found a double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) of the RET proto-oncogene.

Key words:
medullary thyroid cancer, molecular genetics, MEN2A syndrome, RET proto-oncogene.


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