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Statements

Subject Item
n2:RIV%2F00209805%3A_____%2F04%3A00012673%21RIV%2F2005%2FMZ0%2FL26005%2FN
rdf:type
n15:Vysledek skos:Concept
dcterms:description
Zárodečné mutace v BRCA1 a BRCA2 genech jsou zodpovědné za většinu hereditárních nádorů prsu a ovaria. Kompletní analýza kódujících sekvencí obou genů byla provedena u 197 pacientek s karcinomem prsu/ovaria z vysoce rizikových rodin a u 53 pacientek se sporadickým karcinomem prsu/ovaria. Celkem bylo nalezeno 59 mutací ( 16 různých) v genu BRCA1 a 29 mutací ( 17 různých) v genu BRCA2 u nepříbuzných pacientek s nádorem prsu nebo ovaria. Nejčastěji zjištěnými mutacemi v genu BRCA1 byly ( dle BIC Databáze) c.5385dupC (22 případů), c.3819-_3823delGTAAA (8 případů) a c.300TG (6 případů), v genu BRCA2 byly c.8138_8142delCCTTT (7 případů) a c.8765_8766delAG (7 případů). Celkově těhcto 5 mutací representovalo 56.8% ze všech nalezených mutací. Široké spektrum mutací bylo nalezeno včetně 4 nových nepublikovaných mutací (c.2881delA v BRCA1 genu; a c. 6677_6678delAA, c.6982dupT a c.8397_8400dupTGGG v BRCA2 genu). Patogenní mutace byly zachyceny u 80 (40.6%) ze 197 vysoce rizikových rodin, u 6 (37.5%) z Germline mutations in BRCA1 and BRCA2 genes account for majority of hereditary breast and ovarian cancer. The complete coding sequence analysis of both genes was carried out in 197 breast/ovarian cancer patients from high-risk families and 53 patients with sporadic breast/ovarian cancer. In summary, 59 mutations (16 different) in BRCA1 gene and 29 mutations (17 different) in BRCA2 gene were identified in unrelated breast and/or ovarian index cases. The most frequently found mutations in BRCA1 gene were c.5385dupC (22 cases), c.3819-_3823delGTAAA (8 cases) and c.300TG (6 cases). The most frequently found mutations in BRCA2 gene were c.8138_8142delCCTTT (7 cases) and c.8765_8766delAG (7 cases). Altogether, these 5 mutations represented 56,8% of all detected mutations. A broad spectrum of other mutations was detected including four novel mutations (c.2881delA in BRCA1 gene; and c. 6677_6678delAA, c.6982dupT and c.8397_8400dupTGGG in BRCA2 gene). Deleterious mutations were found in 80 (40 Germline mutations in BRCA1 and BRCA2 genes account for majority of hereditary breast and ovarian cancer. The complete coding sequence analysis of both genes was carried out in 197 breast/ovarian cancer patients from high-risk families and 53 patients with sporadic breast/ovarian cancer. In summary, 59 mutations (16 different) in BRCA1 gene and 29 mutations (17 different) in BRCA2 gene were identified in unrelated breast and/or ovarian index cases. The most frequently found mutations in BRCA1 gene were c.5385dupC (22 cases), c.3819-_3823delGTAAA (8 cases) and c.300TG (6 cases). The most frequently found mutations in BRCA2 gene were c.8138_8142delCCTTT (7 cases) and c.8765_8766delAG (7 cases). Altogether, these 5 mutations represented 56,8% of all detected mutations. A broad spectrum of other mutations was detected including four novel mutations (c.2881delA in BRCA1 gene; and c. 6677_6678delAA, c.6982dupT and c.8397_8400dupTGGG in BRCA2 gene). Deleterious mutations were found in 80 (40
dcterms:title
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic BRCA1 a BRCA2 mutace u žen s familiárním nebo časným výskytem nádorů prsu/ovária v České republice BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic
skos:prefLabel
BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic BRCA1 a BRCA2 mutace u žen s familiárním nebo časným výskytem nádorů prsu/ovária v České republice
skos:notation
RIV/00209805:_____/04:00012673!RIV/2005/MZ0/L26005/N
n4:strany
397; 398
n4:aktivita
n5:Z n5:P
n4:aktivity
P(NC5561), P(NC6396), Z(MZ00020980501)
n4:cisloPeriodika
4
n4:dodaniDat
n13:2005
n4:domaciTvurceVysledku
n16:1030779
n4:druhVysledku
n11:J
n4:duvernostUdaju
n8:S
n4:entitaPredkladatele
n10:predkladatel
n4:idSjednocenehoVysledku
556537
n4:idVysledku
RIV/00209805:_____/04:00012673
n4:jazykVysledku
n17:eng
n4:klicovaSlova
BRCA1;BRCA2, mutation analysis;protein truncation test;heteroduplex analysis;direct sequencing;breast cancer;ovarian cancer;Czech
n4:klicoveSlovo
n6:ovarian%20cancer n6:protein%20truncation%20test n6:BRCA1 n6:BRCA2 n6:Czech n6:direct%20sequencing n6:mutation%20analysis n6:breast%20cancer n6:heteroduplex%20analysis
n4:kodStatuVydavatele
US - Spojené státy americké
n4:kontrolniKodProRIV
[0D07F7ED4641]
n4:nazevZdroje
Human mutation
n4:obor
n12:FD
n4:pocetDomacichTvurcuVysledku
7
n4:pocetTvurcuVysledku
7
n4:projekt
n14:NC6396 n14:NC5561
n4:rokUplatneniVysledku
n13:2004
n4:svazekPeriodika
23
n4:tvurceVysledku
Foretová, Lenka
n4:zamer
n18:MZ00020980501
s:issn
1059-7794
s:numberOfPages
2