Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11150%2F06%3A00004343" target="_blank" >RIV/00216208:11150/06:00004343 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/06:860 RIV/00179906:_____/06:00000138 RIV/00216208:11110/06:00009796 RIV/00064165:_____/06:00001458
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Double Germline Mutations in the RET Proto-oncogene in MEN 2A and MEN 2B Kindreds
Original language description
We have detected double germline mutations in 2 different exons on the same RET allele in two MEN 2 families. In the MEN 2A family, double germline mutation in exons 10 (Cys620Phe) and 13 (Tyr791Phe) was detected. In the MEN 2B family, besides the classical germline mutation in exon 16 (Met918Thr) a second germline mutation in exon 13 (Tyr791Phe) was found. This study revealed that MEN 2 syndromes can also be caused by double germline mutations in the RET proto-oncogene and these families can be added to small worldwide cohort of families with multiple germline mutations.
Czech name
Dvojitá zárodečná mutace RET protoonkogenu u příbuzných s MEN 2A a MEN 2B
Czech description
Prokázali jsme dvojitou zárodečnou mutaci ve 2 exonech téže alely RET protoonkogenu ve 2 rodinách se syndromem MEN 2. V rodině s MEN 2A byly zárodečné mutace v exonech 10 (Cys620Phe) a 13 (Tyr791Phe). V rodině s MEN 2B byl vedle klasické zárodečné mutacev exonu 16 (Met918Thr) nalezena další zárodečná mutace v exonu 13 (Tyr791Phe). Studie prokázala, že syndrom MEN 2 může být vyvolán dvojitou zárodečnou mutací RET protoonkogenu.
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
FP - Other medical fields
OECD FORD branch
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2006
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Experimental and Clinical Endocrinology and Diabetes
ISSN
0947-7349
e-ISSN
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Volume of the periodical
114
Issue of the periodical within the volume
4
Country of publishing house
DE - GERMANY
Number of pages
5
Pages from-to
192-196
UT code for WoS article
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EID of the result in the Scopus database
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