Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F09%3A5122" target="_blank" >RIV/00064203:_____/09:5122 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/09:5122
Result on the web
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DOI - Digital Object Identifier
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Alternative languages
Result language
angličtina
Original language name
Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
Original language description
We present a girl who developed adrenocortical adenoma at the age of I year and osteosarcoma at the age of 5 years. There was no history of cancer in her parents and their relatives. However, both tumors were typical for the Li-Fraumeni syndrome (LFS), and the patient met criteria for germline TP53 mutation testing. A mutation in codon 282 (Arg282Trp) was identified in her blood lymphocyte genomic DNA.
Czech name
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Czech description
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Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Result continuities
Project
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Continuities
Z - Vyzkumny zamer (s odkazem do CEZ)
Others
Publication year
2009
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
American Journal of Medical Genetics. Part A
ISSN
1552-4825
e-ISSN
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Volume of the periodical
149A
Issue of the periodical within the volume
2
Country of publishing house
US - UNITED STATES
Number of pages
6
Pages from-to
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UT code for WoS article
000263433400011
EID of the result in the Scopus database
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