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Statements

Subject Item
n2:RIV%2F00209805%3A_____%2F04%3A00013899%21RIV%2F2005%2FMZ0%2FL26005%2FN
rdf:type
skos:Concept n13:Vysledek
dcterms:description
Germline mutations in highly penetrant cancer susceptibility gene BRCA1 cause genetic predisposition to breast and ovarian cancers. Mutations generating a premature stop codon are considered to be pathogenic. However, distinguishing disease-causing missense mutations from rare polymorphisms remains problematic. Three different missense mutations located within conserved C3HC4 RING finger domain of BRCA1 gene were repeatedly detected in unrelated high-risk Czech breast and/or ovarian cancer families: p.Met18Lys (M18K); p.Cys39Arg (C39R); p.Cys61Gly (C61G). The RING finger motif of BRCA1 gene is involved in protein-protein interactions. The p.Cys61Gly is frequent mutation and was proved by many authors to segregate with the disease in several breast cancer families. However, p.Met18Lys detected in 3 Czech families is not recently present in BIC database and p.Cys39Agr detected in 3 Czech families has been submitted only twice to BIC database. None of these missense mutations was present in our control g Germline mutations in highly penetrant cancer susceptibility gene BRCA1 cause genetic predisposition to breast and ovarian cancers. Mutations generating a premature stop codon are considered to be pathogenic. However, distinguishing disease-causing missense mutations from rare polymorphisms remains problematic. Three different missense mutations located within conserved C3HC4 RING finger domain of BRCA1 gene were repeatedly detected in unrelated high-risk Czech breast and/or ovarian cancer families: p.Met18Lys (M18K); p.Cys39Arg (C39R); p.Cys61Gly (C61G). The RING finger motif of BRCA1 gene is involved in protein-protein interactions. The p.Cys61Gly is frequent mutation and was proved by many authors to segregate with the disease in several breast cancer families. However, p.Met18Lys detected in 3 Czech families is not recently present in BIC database and p.Cys39Agr detected in 3 Czech families has been submitted only twice to BIC database. None of these missense mutations was present in our control g Zárodečné mutace ve vysoce penetrantním genu BRCA1 způsobují predispozici k nádorům prsu a ovaria. Mutace, které způsobují stop kodon, jsou považovány za patogenní. Rozlišení patogenních missense mutací od polymorfismů je složité. Tři různé missense mutace lokalizované v konzervované oblasti C3HC4RING finger domény BRCA1 genu byly opakovaně nalezeny v českých rizikových rodinách s nádory prsu a/nebo ovaria: : p.Met18Lys (M18K); p.Cys39Arg (C39R); p.Cys61Gly (C61G). RING finger motiv genu BRCA1 je zapojen do protein-protein interakce. Mutace p.Cys61Gly je nacházena často a mnoha autory bylo potvrzeno, že segreguje s onemocněním v různých rodinách s nádory prsu. Mutace p.Met18Lys byla nalezena ve 3 českých rodinách a nebyla zatím publikována v BIC databázi. Mutace p.Cys39Arg byla nalezena také ve třech českých rodinách a v BIC databázi je zmíněna jen dvakrát. Žádná z těchto mutací nebyla nalezena v kontrolní populaci 50 zdravých postmenopausálních žen bez osobní a rodinné anamnézy nádorových onemocnění
dcterms:title
Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer Missense mutace v oblasti RING finger domény BRCA1 genu detekované u vysoce rizikových českých pacientek s hereditárním nádorem prsu a ovaria Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer
skos:prefLabel
Missense mutace v oblasti RING finger domény BRCA1 genu detekované u vysoce rizikových českých pacientek s hereditárním nádorem prsu a ovaria Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer
skos:notation
RIV/00209805:_____/04:00013899!RIV/2005/MZ0/L26005/N
n3:strany
177
n3:aktivita
n5:Z n5:P
n3:aktivity
P(NC5561), P(NC6396), Z(MZ00020980501)
n3:cisloPeriodika
suppl. 1
n3:dodaniDat
n16:2005
n3:domaciTvurceVysledku
n14:1030779
n3:druhVysledku
n11:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n15:predkladatel
n3:idSjednocenehoVysledku
573757
n3:idVysledku
RIV/00209805:_____/04:00013899
n3:jazykVysledku
n17:eng
n3:klicovaSlova
BRCA1;missense mutations;breast cancer;ovarian cancer
n3:klicoveSlovo
n4:ovarian%20cancer n4:BRCA1 n4:breast%20cancer n4:missense%20mutations
n3:kodStatuVydavatele
GB - Spojené království Velké Británie a Severního Irska
n3:kontrolniKodProRIV
[A002BB62F3E7]
n3:nazevZdroje
European journal of human genetics
n3:obor
n18:FD
n3:pocetDomacichTvurcuVysledku
5
n3:pocetTvurcuVysledku
6
n3:projekt
n8:NC5561 n8:NC6396
n3:rokUplatneniVysledku
n16:2004
n3:svazekPeriodika
17
n3:tvurceVysledku
Foretová, Lenka
n3:zamer
n12:MZ00020980501
s:issn
1018-4813
s:numberOfPages
1