About: Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome

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An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
Title	Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome (en)
skos:prefLabel	Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome (en)
skos:notation	RIV/00216208:11130/09:5122!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620813), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Kodet, Roman Novotná, Kamila Sedláček, Zdeněk Sumerauer, David Pavlíková, Kristýna
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	342329
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5122
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	TP53 mutation breast-cancer Li-Fraumeni syndrome familial syndrome neoplasms allelic imbalance cancer predisposition de novo mutation germline p53 mutations neurofibromatosis type-1 somatic mosaicism electrophoresis gene tumors sarcomas
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[80AF84A6C992]
http://linked.open...i/riv/nazevZdroje	American Journal of Medical Genetics. Part A
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	149A
http://linked.open...iv/tvurceVysledku	Kodet, Roman Sedláček, Zdeněk Pavlíková, Kristýna Sumerauer, David Procházková, Kamila Minarik, M.
http://linked.open...ain/vavai/riv/wos	000263433400011
http://linked.open...n/vavai/riv/zamer	The Molecular Basis of Childhood Malignancies and Therapeutic Applications Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	1552-4825
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11130
is http://linked.open...avai/riv/vysledek of	Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome Somatic TP53 Mutation Mosaicism in a Patient With Li-Fraumeni Syndrome

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