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Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F10%3A7534%21RIV11-MZ0-11110___
rdf:type
skos:Concept n18:Vysledek
dcterms: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.
dcterms: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.
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.
skos:notation
RIV/00216208:11110/10:7534!RIV11-MZ0-11110___
n3:aktivita
n5:P n5:Z
n3:aktivity
P(NR9051), P(NS10304), Z(MSM0021620808)
n3:cisloPeriodika
3
n3:dodaniDat
n11:2011
n3:domaciTvurceVysledku
n4:1747169 n4:4292669 n4:5081513 n4:5825156 n4:7191642 n4:2973278 n4:6104347 n4:3492125
n3:druhVysledku
n10:J
n3:duvernostUdaju
n14:S
n3:entitaPredkladatele
n6:predkladatel
n3:idSjednocenehoVysledku
279878
n3:idVysledku
RIV/00216208:11110/10:7534
n3:jazykVysledku
n17:eng
n3:klicovaSlova
hereditary breast cancer; BRCA/2 mutation analysis; population-based study
n3:klicoveSlovo
n15:population-based%20study n15:BRCA%2F2%20mutation%20analysis n15:hereditary%20breast%20cancer
n3:kodStatuVydavatele
SK - Slovenská republika
n3:kontrolniKodProRIV
[95AD3F4D323B]
n3:nazevZdroje
Neoplasma
n3:obor
n19:EB
n3:pocetDomacichTvurcuVysledku
8
n3:pocetTvurcuVysledku
10
n3:projekt
n13:NR9051 n13:NS10304
n3:rokUplatneniVysledku
n11:2010
n3:svazekPeriodika
57
n3:tvurceVysledku
Pohlreich, Petr Petruželka, Luboš Kleibl, Zdeněk Novotný, Jan Stříbrná, Jana Zikán, Michal Matějů, Martin Janatová, Markéta Souček, Pavel Kormunda, Stanislav
n3:wos
000277412800014
n3:zamer
n7:MSM0021620808
s:issn
0028-2685
s:numberOfPages
6
n12:organizacniJednotka
11110