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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5122%21RIV10-MZ0-11130___
rdf:type
skos:Concept n16:Vysledek
dcterms: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. 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.
dcterms:title
Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
skos:prefLabel
Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome
skos:notation
RIV/00216208:11130/09:5122!RIV10-MZ0-11130___
n3:aktivita
n11:Z
n3:aktivity
Z(MSM0021620813), Z(MZ0FNM2005)
n3:cisloPeriodika
2
n3:dodaniDat
n10:2010
n3:domaciTvurceVysledku
n7:9373640 n7:4730488 n7:7950667 n7:3149072 n7:3555828
n3:druhVysledku
n4:J
n3:duvernostUdaju
n13:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
342329
n3:idVysledku
RIV/00216208:11130/09:5122
n3:jazykVysledku
n17:eng
n3:klicovaSlova
cancer predisposition; TP53 mutation; Li-Fraumeni syndrome; somatic mosaicism; allelic imbalance; de novo mutation; germline p53 mutations; neurofibromatosis type-1; familial syndrome; breast-cancer; gene; electrophoresis; neoplasms; sarcomas; tumors
n3:klicoveSlovo
n6:breast-cancer n6:somatic%20mosaicism n6:neurofibromatosis%20type-1 n6:gene n6:cancer%20predisposition n6:de%20novo%20mutation n6:germline%20p53%20mutations n6:familial%20syndrome n6:sarcomas n6:Li-Fraumeni%20syndrome n6:electrophoresis n6:TP53%20mutation n6:tumors n6:neoplasms n6:allelic%20imbalance
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[80AF84A6C992]
n3:nazevZdroje
American Journal of Medical Genetics. Part A
n3:obor
n18:EB
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
6
n3:rokUplatneniVysledku
n10:2009
n3:svazekPeriodika
149A
n3:tvurceVysledku
Sedláček, Zdeněk Procházková, Kamila Kodet, Roman Minarik, M. Pavlíková, Kristýna Sumerauer, David
n3:wos
000263433400011
n3:zamer
n5:MZ0FNM2005 n5:MSM0021620813
s:issn
1552-4825
s:numberOfPages
6
n12:organizacniJednotka
11130