Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F12%3A8055" target="_blank" >RIV/00064203:_____/12:8055 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11130/12:8055 RIV/00023761:_____/12:#0000236

Result on the web

<a href="http://dx.doi.org/10.1007/s00383-011-2993-2" target="_blank" >http://dx.doi.org/10.1007/s00383-011-2993-2</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene

Original language description

Purpose Inactivating germline mutations in the RET proto-oncogene are the major genetic cause of Hirschsprung's disease (HD). In some cases, HD can be associated with medullary thyroid carcinoma (MTC) that is commonly caused by activating RET mutations.Methods The retrospective and prospective genetic analyses of 157 patients with HD operated on between December 1979 and June 2011 were carried out. DNA was isolated from peripheral leukocytes. HD patients and family members were tested for RET mutationsby direct sequencing and single-strand conformation polymorphism methods. Results RET mutations were detected in 16 patients (10%). Association with MTC was found in two families, other eight families had a mutation with potentially high risk of MTC development and four novel mutations were detected. Total colonic aganglionosis was noted to have a high mutation detection rate (40%). Three patients underwent total thyroidectomy (two had clinical manifestation of MTC, one C-cell hyperplas

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FG - Paediatrics

OECD FORD branch

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Project

<a href="/en/project/NR9165" target="_blank" >NR9165: Main genetic causes and their modifiers in the pathogenesis of thyroid cancer</a><br>

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2012

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Pediatric Surgery International

ISSN

0179-0358

e-ISSN

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Volume of the periodical

28

Issue of the periodical within the volume

2

Country of publishing house

DE - GERMANY

Number of pages

6

Pages from-to

123-128

UT code for WoS article

000300679700003

EID of the result in the Scopus database

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