This HTML5 document contains 67 embedded RDF statements represented using HTML+Microdata notation.

The embedded RDF content will be recognized by any processor of HTML5 Microdata.

Namespace Prefixes

PrefixIRI
dctermshttp://purl.org/dc/terms/
n19http://localhost/temp/predkladatel/
n12http://linked.opendata.cz/resource/domain/vavai/projekt/
n4http://linked.opendata.cz/resource/domain/vavai/riv/tvurce/
n11http://linked.opendata.cz/ontology/domain/vavai/
n7http://linked.opendata.cz/resource/domain/vavai/zamer/
shttp://schema.org/
skoshttp://www.w3.org/2004/02/skos/core#
n3http://linked.opendata.cz/ontology/domain/vavai/riv/
n17http://linked.opendata.cz/resource/domain/vavai/vysledek/RIV%2F00216208%3A11110%2F10%3A7150%21RIV11-MZ0-11110___/
n2http://linked.opendata.cz/resource/domain/vavai/vysledek/
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
n6http://linked.opendata.cz/ontology/domain/vavai/riv/klicoveSlovo/
n18http://linked.opendata.cz/ontology/domain/vavai/riv/duvernostUdaju/
xsdhhttp://www.w3.org/2001/XMLSchema#
n9http://linked.opendata.cz/ontology/domain/vavai/riv/jazykVysledku/
n5http://linked.opendata.cz/ontology/domain/vavai/riv/aktivita/
n15http://linked.opendata.cz/ontology/domain/vavai/riv/obor/
n10http://linked.opendata.cz/ontology/domain/vavai/riv/druhVysledku/
n16http://reference.data.gov.uk/id/gregorian-year/

Statements

Subject Item
n2:RIV%2F00216208%3A11110%2F10%3A7150%21RIV11-MZ0-11110___
rdf:type
n11:Vysledek skos:Concept
dcterms:description
Large genomic rearrangements (LGR) represent substantial proportion of pathogenic mutations in the BRCA1 gene, whereas the frequency of rearrangements in the BRCA2 gene is low in many populations. We screened for LGRs in BRCA1 and BRCA2 genes by multiplex ligation-dependent probe amplification (MLPA) in 521 unrelated patients negative for BRCA1/2 point mutations selected from 655 Czech high-risk breast and/or ovarian cancer patients. We identified 14 patients carrying 8 different LGRs in BRCA1 that accounted for 12.3% of all pathogenic BRCA1 mutations. No LGRs were detected in the BRCA2 gene. Five LGRs were novel. The deletions of exons 1-17 and 5-14, identified each in four families, represented Czech founder mutations. The present study indicates that screening for LGRs in BRCA1 should include patients from breast or ovarian cancer families as well as high-risk patients with non-familial cancer, in particular cases with early-onset breast or ovarian cancer. Large genomic rearrangements (LGR) represent substantial proportion of pathogenic mutations in the BRCA1 gene, whereas the frequency of rearrangements in the BRCA2 gene is low in many populations. We screened for LGRs in BRCA1 and BRCA2 genes by multiplex ligation-dependent probe amplification (MLPA) in 521 unrelated patients negative for BRCA1/2 point mutations selected from 655 Czech high-risk breast and/or ovarian cancer patients. We identified 14 patients carrying 8 different LGRs in BRCA1 that accounted for 12.3% of all pathogenic BRCA1 mutations. No LGRs were detected in the BRCA2 gene. Five LGRs were novel. The deletions of exons 1-17 and 5-14, identified each in four families, represented Czech founder mutations. The present study indicates that screening for LGRs in BRCA1 should include patients from breast or ovarian cancer families as well as high-risk patients with non-familial cancer, in particular cases with early-onset breast or ovarian cancer.
dcterms:title
Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
skos:prefLabel
Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene
skos:notation
RIV/00216208:11110/10:7150!RIV11-MZ0-11110___
n3:aktivita
n5:P n5:Z
n3:aktivity
P(NS10304), Z(MSM0021620808)
n3:cisloPeriodika
2
n3:dodaniDat
n16:2011
n3:domaciTvurceVysledku
n4:1455486 n4:2973278 n4:5819008 n4:3492125 n4:4292669 n4:4617266 n4:7191642 n4:1747169
n3:druhVysledku
n10:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n17:predkladatel
n3:idSjednocenehoVysledku
286510
n3:idVysledku
RIV/00216208:11110/10:7150
n3:jazykVysledku
n9:eng
n3:klicovaSlova
BRCA1 gene; BRCA2 gene; Large genomic rearrangements (LGR); Hereditary breast and ovarian cancer syndrome; Multiplex ligation-dependent probe amplification (MLPA); Chromosome-specific array comparative genomic hybridization (aCGH); breast-cancer; ovarian-cancer; hereditary breast; germline rearrangements; spanish families; italian breast; mutations; deletions; prevalence; sequence
n3:klicoveSlovo
n6:ovarian-cancer n6:breast-cancer n6:germline%20rearrangements n6:BRCA1%20gene n6:italian%20breast n6:Large%20genomic%20rearrangements%20%28LGR%29 n6:Hereditary%20breast%20and%20ovarian%20cancer%20syndrome n6:BRCA2%20gene n6:Multiplex%20ligation-dependent%20probe%20amplification%20%28MLPA%29 n6:prevalence n6:mutations n6:hereditary%20breast n6:sequence n6:Chromosome-specific%20array%20comparative%20genomic%20hybridization%20%28aCGH%29 n6:spanish%20families n6:deletions
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[85AC339FAD14]
n3:nazevZdroje
Breast Cancer Research and Treatment
n3:obor
n15:EB
n3:pocetDomacichTvurcuVysledku
8
n3:pocetTvurcuVysledku
8
n3:projekt
n12:NS10304
n3:rokUplatneniVysledku
n16:2010
n3:svazekPeriodika
124
n3:tvurceVysledku
Zimovjanová, Martina Stříbrná, Jana Kotlas, Jaroslav Matějů, Martin Zikán, Michal Pohlreich, Petr Kleibl, Zdeněk Tichá, Ivana
n3:wos
000283132800005
n3:zamer
n7:MSM0021620808
s:issn
0167-6806
s:numberOfPages
11
n19:organizacniJednotka
11110