Clinical characteristics and genetic screening of an extended family with MEN2A View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2002-07

AUTHORS

E. Algün, N. Abaci, M. Kösem, Ç. Kotan, B. Köseoğlu, H. Boztepe, R. Šekeroğlu, H. Aslan, C. Topal, H. Ayakta, I. Uygan, F. Alagöl, N. Erginel-Ünaltuna, H. Aksoy

ABSTRACT

MEN-2A is characterized by medullary thyroid carcinoma (MTC) with pheochromocytoma and sometimes parathyroid adenoma. In affected members of the family, the risk of MTC is about 100%. Biochemical screening allows tumors to be detected early but even at this stage treatment is not always curative. Missense mutations in exon 10 and 11 of the RET proto-oncogene are associated with MEN-2A. Early detection of this mutation by DNA analysis allows the identification of the carriers of the gene. We performed genetic screening in 88 members of an extended family with MEN-2A and found 18 members positive for RET mutation (Cys634Gly). Only three of these 18 RET positive cases had a previous diagnosis of medullary cancer and/or pheochromocytoma. Up to now, 12 of the RET positive cases have undergone thyroidectomy. There was extended disease with cervical lymph node metastasis in 6 of them, bilateral medullary microcancer in 3 and c-cell hyperplasia in the remaining 3. Three of the 18 RET positive patients had also pheochromocytoma. Primary hyperparathyroidism was present in only one patient. The mean age of diagnosis of medullary cancer was between 25-50 yr and mean age of death was between 35-95 yr in affected members of the family. The family had many other affected members in other cities in Turkey and in other countries throughout the world from Australia to the Netherlands. So this family is perhaps one of the most extended families with MEN-2A. More... »

PAGES

603-608

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/bf03345083

DOI

http://dx.doi.org/10.1007/bf03345083

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1014569530

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/12150334


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Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

JSON-LD is a popular format for linked data which is fully compatible with JSON.

curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1007/bf03345083'

N-Triples is a line-based linked data format ideal for batch operations.

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Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/bf03345083'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/bf03345083'


 

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317 School of Medicine, Department of Radiology, Yüzüncü Yil University, Van, Turkey
318 School of Medicine, Department of Surgery, Yüzüncü Yil University, Van, Turkey
319 rdf:type schema:Organization
320 https://www.grid.ac/institutes/grid.9601.e schema:alternateName Istanbul University
321 schema:name Institute for Experimental Medical Research (DETAE), İstanbul University, Van, Turkey
322 rdf:type schema:Organization
 




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