About: 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

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About: 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 Goto Sponge NotDistinct Permalink

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rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00216208:11110/10:7150!RIV11-MZ0-11110___
http://linked.open...avai/riv/aktivita	P Z
http://linked.open...avai/riv/aktivity	P(NS10304), Z(MSM0021620808)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2011
http://linked.open...aciTvurceVysledku	Stříbrná, Jana Kleibl, Zdeněk Kotlas, Jaroslav Zikán, Michal Pohlreich, Petr Tichá, Ivana Zimovjanová, Martina 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	286510
http://linked.open...ai/riv/idVysledku	RIV/00216208:11110/10:7150
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/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 (en)
http://linked.open.../riv/klicoveSlovo	breast-cancer ovarian-cancer deletions mutations prevalence sequence BRCA1 gene BRCA2 gene Chromosome-specific array comparative genomic hybridization (aCGH) Hereditary breast and ovarian cancer syndrome Large genomic rearrangements (LGR) Multiplex ligation-dependent probe amplification (MLPA) germline rearrangements hereditary breast italian breast spanish families
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[85AC339FAD14]
http://linked.open...i/riv/nazevZdroje	Breast Cancer Research and Treatment
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	8 (xsd:int)
http://linked.open...cetTvurcuVysledku	8 (xsd:int)
http://linked.open...vavai/riv/projekt	HEREDITARY BREAST AND OVARIAN CANCER: THE ROLE OF LOW PENETRANCE GENES IN TUMORIGENESIS
http://linked.open...UplatneniVysledku	2010
http://linked.open...v/svazekPeriodika	124
http://linked.open...iv/tvurceVysledku	Kleibl, Zdeněk Pohlreich, Petr Zikán, Michal Tichá, Ivana Zimovjanová, Martina Matějů, Martin Kotlas, Jaroslav Stříbrná, Jana
http://linked.open...ain/vavai/riv/wos	000283132800005
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	0167-6806
number of pages	11 (xsd:int)
http://localhost/t...ganizacniJednotka	11110
is http://linked.open...avai/riv/vysledek of	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 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

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