About: Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

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About: Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intensive clinical follow-up or prophylactic surgery. Generally accepted inclusion criteria for BRCA1/2 mutation testing are based either upon family history of breast or ovarian cancer or young age at cancer diagnosis. In order to analyze the impact of BRCA1/2 mutations on breast cancer development in the Czech population and to confront the clinical and histopathological data of mutation carriers with current criteria for mutation testing we examined the frequency of mutations in unselected breast cancer cases. Mutational analysis of BRCA1/2 genes performed in 679 unselected female breast cancer patients included all recurrent deleterious alterations previously identified in the Prague area and truncating mutations in the whole exon 11 of BRCA1. The two major susceptibility genes, BRCA1 and BRCA2, are involved in hereditary breast and ovarian cancer syndrome. Early detection of mutation carriers has crucial clinical importance, as it allows identification of women who may benefit from intensive clinical follow-up or prophylactic surgery. Generally accepted inclusion criteria for BRCA1/2 mutation testing are based either upon family history of breast or ovarian cancer or young age at cancer diagnosis. In order to analyze the impact of BRCA1/2 mutations on breast cancer development in the Czech population and to confront the clinical and histopathological data of mutation carriers with current criteria for mutation testing we examined the frequency of mutations in unselected breast cancer cases. Mutational analysis of BRCA1/2 genes performed in 679 unselected female breast cancer patients included all recurrent deleterious alterations previously identified in the Prague area and truncating mutations in the whole exon 11 of BRCA1. (en)
Title	Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. (en)
skos:prefLabel	Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. (en)
skos:notation	RIV/00216208:11110/10:7534!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NR9051), P(NS10304), Z(MSM0021620808)
http://linked.open...iv/cisloPeriodika	3
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Stříbrná, Jana Kleibl, Zdeněk Novotný, Jan Janatová, Markéta Zikán, Michal Petruželka, Luboš Pohlreich, Petr Matějů, Martin
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 / 1. lékařská fakulta
http://linked.open...dnocenehoVysledku	279878
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7534
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	hereditary breast cancer; BRCA/2 mutation analysis; population-based study (en)
http://linked.open.../riv/klicoveSlovo	BRCA/2 mutation analysis hereditary breast cancer population-based study
http://linked.open...odStatuVydavatele	SK - Slovenská republika
http://linked.open...ontrolniKodProRIV	[95AD3F4D323B]
http://linked.open...i/riv/nazevZdroje	Neoplasma
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	10 (xsd:int)
http://linked.open...vavai/riv/projekt	Role of dominant susceptibility genes in breast tumorigenesis - RNA-based analyses HEREDITARY BREAST AND OVARIAN CANCER: THE ROLE OF LOW PENETRANCE GENES IN TUMORIGENESIS
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	57
http://linked.open...iv/tvurceVysledku	Janatová, Markéta Kleibl, Zdeněk Kormunda, Stanislav Novotný, Jan Petruželka, Luboš Pohlreich, Petr Zikán, Michal Souček, Pavel Matějů, Martin Stříbrná, Jana
http://linked.open...ain/vavai/riv/wos	000277412800014
http://linked.open...n/vavai/riv/zamer	Molekulárně biologické, genetické a epigenetické aspekty vzniku a rozvoje modelových tumorů dospělého věku. Význam pro epidemiologii, časnou diagnostiku a léčbu
issn	0028-2685
number of pages	6 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers. Population-based study of BRCA1/2 mutations: family history based criteria identify minority of mutation carriers.

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