About: Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer

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About: Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	This study represents an evaluation of deleterious genetic variants in BRCA1 and BRCA2 genes in high-risk Czech patients with breast and/or ovarian cancer. Authors identified a characterized 44 different BRCA1 mutations in 204 families and 41 different BRCA2 mutations in 90 unrelated families. Nine putative splice-site variants were evaluated at the cDNA level and were demonstrated to result in aberrant trascripts. The classification of pathogenic mutations is important for genetic counseling of families with hereditary breast and ovarian cancers. This study represents an evaluation of deleterious genetic variants in BRCA1 and BRCA2 genes in high-risk Czech patients with breast and/or ovarian cancer. Authors identified a characterized 44 different BRCA1 mutations in 204 families and 41 different BRCA2 mutations in 90 unrelated families. Nine putative splice-site variants were evaluated at the cDNA level and were demonstrated to result in aberrant trascripts. The classification of pathogenic mutations is important for genetic counseling of families with hereditary breast and ovarian cancers. (en) Studie se zabývá klasifikací a charakterizací důsledků genetických variant detekovaných v genech BRCA1 a BRCA2 u vysoce rizikových českých pacientů s nádorem prsu a/nebo ovaria. Autoři detekovali a charakterizovali 44 různých BRCA1 mutací u 204 rodin a 41 různých BRCA2 mutací u 90 nepříbuzných rodin. U 9 mutací byl experimentálně probázán aberantní sestřih na cDNA úrovni. Identifikace a průkaz kauzality patogenní mutace má velký význam v genetickém poradenství u rodin s hereditární formou predispozice ke vzniku nádoru prsu a ovaria. (cs)
Title	Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer Spektrum a charakterizace kauzálních mutací v genech BRCA1 a BRCA2 u vysoce rizikových českých pacientů s nádorem prsu a/nebo ovaria (cs) Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer (en)
skos:prefLabel	Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer Spektrum a charakterizace kauzálních mutací v genech BRCA1 a BRCA2 u vysoce rizikových českých pacientů s nádorem prsu a/nebo ovaria (cs) Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer (en)
skos:notation	RIV/00209805:_____/08:#0000077!RIV09-MZ0-00209805
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MZ0MOU2005)
http://linked.open...iv/cisloPeriodika	140
http://linked.open...vai/riv/dodaniDat	2009
http://linked.open...aciTvurceVysledku	Lukešová, Miroslava Foretová, Lenka Navrátilová, Marie Macháčková, Eva Vašíčková, Petra
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	Masarykův onkologický ústav
http://linked.open...dnocenehoVysledku	396470
http://linked.open...ai/riv/idVysledku	RIV/00209805:_____/08:#0000077
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	BRCA1; BRCA2; germline mutation; splice-site mutation; hereditary breast cancer (en)
http://linked.open.../riv/klicoveSlovo	BRCA1 BRCA2 germline mutation hereditary breast cancer splice-site mutation
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[2B8A48AFF641]
http://linked.open...i/riv/nazevZdroje	BMC cancer
http://linked.open...in/vavai/riv/obor	FD
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...UplatneniVysledku	2008
http://linked.open...v/svazekPeriodika	8
http://linked.open...iv/tvurceVysledku	Foretová, Lenka Macháčková, Eva Navrátilová, Marie Vašíčková, Petra Lukešová, Miroslava
http://linked.open...ain/vavai/riv/wos	000256448500001
http://linked.open...n/vavai/riv/zamer	Functional diagnostics of malignant tumours
issn	1471-2407
number of pages	12 (xsd:int)

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