About: Mutations and polymorphisms in TP53 gene-an overview on the role in colorectal cancer

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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	A functionally n gene represent one of the highest recurring perturbations in human tumours, including colorectal cancer (CRC). However, the variegated phenotype of wide spectrum of somatic mutations in TP53 and the complexity of the disease prevent a straight interpretation of the mutational analysis in tumours. In addition to the presence of somatic mutations, polymorphic features of the gene may also contribute to alteration of the normal TP53 functioning and variants, mainly in the form of single nucleotide polymorphisms, can be expected to impact susceptibility to sporadic CRC. In the present study, we reviewed the potential role of alterations in the TP53 gene, both somatic mutations and inherited sequence variations, in predisposition to CRC and in the prognosis and response to therapy. The available data from association studies have mostly shown contradictory outcomes. The majority of the studies were based on limited sample sizes and focussed on a limited number of polymorphisms, with main b. A functionally n gene represent one of the highest recurring perturbations in human tumours, including colorectal cancer (CRC). However, the variegated phenotype of wide spectrum of somatic mutations in TP53 and the complexity of the disease prevent a straight interpretation of the mutational analysis in tumours. In addition to the presence of somatic mutations, polymorphic features of the gene may also contribute to alteration of the normal TP53 functioning and variants, mainly in the form of single nucleotide polymorphisms, can be expected to impact susceptibility to sporadic CRC. In the present study, we reviewed the potential role of alterations in the TP53 gene, both somatic mutations and inherited sequence variations, in predisposition to CRC and in the prognosis and response to therapy. The available data from association studies have mostly shown contradictory outcomes. The majority of the studies were based on limited sample sizes and focussed on a limited number of polymorphisms, with main b. (en)
Title	Mutations and polymorphisms in TP53 gene-an overview on the role in colorectal cancer Mutations and polymorphisms in TP53 gene-an overview on the role in colorectal cancer (en)
skos:prefLabel	Mutations and polymorphisms in TP53 gene-an overview on the role in colorectal cancer Mutations and polymorphisms in TP53 gene-an overview on the role in colorectal cancer (en)
skos:notation	RIV/75010330:_____/12:00009882!RIV13-GA0-75010330
http://linked.open...avai/riv/aktivita	I P Z
http://linked.open...avai/riv/aktivity	I, P(GAP304/10/1286), P(GP305/09/P194), Z(AV0Z50390512)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2013
http://linked.open...aciTvurceVysledku	Vodičková, Ludmila
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	Státní zdravotní ústav, příspěvková organizace
http://linked.open...dnocenehoVysledku	152547
http://linked.open...ai/riv/idVysledku	RIV/75010330:_____/12:00009882
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	genetic polymorphisms; TP53 gene; colorectal cancer (en)
http://linked.open.../riv/klicoveSlovo	genetic polymorphisms TP53 gene colorectal cancer
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[A27A600F65AE]
http://linked.open...i/riv/nazevZdroje	Mutagenesis
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	1 (xsd:int)
http://linked.open...cetTvurcuVysledku	7 (xsd:int)
http://linked.open...vavai/riv/projekt	Polymorphisms in the MTHFR gene: susceptibility to colorectal cancer and role in the response to therapy DNA repair and sporadic colorectal cancer.
http://linked.open...UplatneniVysledku	2012
http://linked.open...v/svazekPeriodika	27
http://linked.open...iv/tvurceVysledku	Hemminki, K. Vodičková, Ludmila Kumar, R. Naccarati, A. Pardini, B. Vodička, P. Poláková, V.
http://linked.open...ain/vavai/riv/wos	000300040200010
http://linked.open...n/vavai/riv/zamer	Molekulární, buněčné a systémové mechanizmy závažných onemocnění lidského organizmu, jejich diagnostika, terapie a farmakoterapie
issn	0267-8357
number of pages	8 (xsd:int)
http://bibframe.org/vocab/doi	10.1093/mutage/ger067

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