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| rdf:type
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| Description
| - We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li-Fraumeni syndrome and only three (including the Li-Fraumeni syndrome family) met the Chompret criteria for germline TP53 mutation testing. In the remaining two families no family history of cancer was identified and/or the parents of the patient were shown not to carry the mutation. Our results give further support to the notion that the occurrence of this rare paediatric tumour, especially in combination with a positive family history of cancer, but possibly also without any family history, may be an indicator of a germline TP53 mutation. The identification of this genetic defect has important consequences for cancer prevention and treatment in affected families.
- We present five families of paediatric patients suffering from choroid plexus carcinoma in which we found germline TP53 mutations. Only one of the families conformed to the criteria of Li-Fraumeni syndrome and only three (including the Li-Fraumeni syndrome family) met the Chompret criteria for germline TP53 mutation testing. In the remaining two families no family history of cancer was identified and/or the parents of the patient were shown not to carry the mutation. Our results give further support to the notion that the occurrence of this rare paediatric tumour, especially in combination with a positive family history of cancer, but possibly also without any family history, may be an indicator of a germline TP53 mutation. The identification of this genetic defect has important consequences for cancer prevention and treatment in affected families. (en)
- Popisujeme pět rodin dětských pacientů s karcinomem choroidálního plexu, u nichž jsme nalezli zárodečné mutace v genu TP53. Pouze jedna z rodin splňovala kritéria pro syndrom Li-Fraumeni a pouze tři rodiny (včetně rodiny s Li-Fraumeni syndromem) splňovaly kritéria podle Chompretové pro testování zárodečných mutací v genu TP53. Ve zbývajících dvou rodinách nebyla zjištěna rodinná zátěž nádorovými onemocněními a/nebo u rodičů pacientů nebylo prokázáno nosičství mutace. Naše nálezy dále podporují skutečnost, že výskyt tohoto vzácného nádoru dětského věku, zejména v kombinaci s pozitivní rodinnou anamnézou nádorů, ale pravděpodobně také bez pozitivní rodinné anamnézy, může svědčit pro zárodečnou mutaci genu TP53. Zjištění této genetické chyby má důležité důsledky pro prevenci a léčbu nádorů v postižených rodinách (cs)
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| Title
| - Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
- Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations (en)
- Nález pěti nových rodin posiluje souvislost mezi karcinomem choroidálního plexu v dětství a zárodečnými mutacemi TP53 (cs)
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| skos:prefLabel
| - Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations
- Identification of five new families strengthens the link between childhood choroid plexus carcinoma and germline TP53 mutations (en)
- Nález pěti nových rodin posiluje souvislost mezi karcinomem choroidálního plexu v dětství a zárodečnými mutacemi TP53 (cs)
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| skos:notation
| - RIV/00843989:_____/05:00012516!RIV09-MSM-00843989
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| http://linked.open...avai/riv/aktivita
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| http://linked.open...avai/riv/aktivity
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| http://linked.open...iv/cisloPeriodika
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| http://linked.open...vai/riv/dodaniDat
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| http://linked.open...aciTvurceVysledku
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| http://linked.open.../riv/druhVysledku
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| http://linked.open...iv/duvernostUdaju
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| http://linked.open...titaPredkladatele
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| http://linked.open...dnocenehoVysledku
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| http://linked.open...ai/riv/idVysledku
| - RIV/00843989:_____/05:00012516
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| http://linked.open...riv/jazykVysledku
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| http://linked.open.../riv/klicovaSlova
| - choroid plexus carcinoma; childhood brain tumours; TP53 germline mutations; Li-Fraumeni syndrome; genetic counselling; Turner syndrome (en)
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| http://linked.open.../riv/klicoveSlovo
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| http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
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| http://linked.open...ontrolniKodProRIV
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| http://linked.open...i/riv/nazevZdroje
| - European Journal of Cancer
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| http://linked.open...in/vavai/riv/obor
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| http://linked.open...ichTvurcuVysledku
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| http://linked.open...cetTvurcuVysledku
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| http://linked.open...UplatneniVysledku
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| http://linked.open...v/svazekPeriodika
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| http://linked.open...iv/tvurceVysledku
| - Plevová, Pavlína
- Sedláček, Z.
- Křepelová, Anna
- Sumerauer, David
- Kodet, R.
- Novotná, Kamila
- Bendová, Šárka
- Širůčková, Simona
- Gregor, Vladimir
- Hedvičáková, P.
- Krutílková, V.
- Fleitz, Julie
- Foreman, Nicholas K.
- Trková, M.
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| http://linked.open...ain/vavai/riv/wos
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| http://linked.open...n/vavai/riv/zamer
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| issn
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| number of pages
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