| Attributes | Values |
|---|
| rdf:type
| |
| 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 (en)
- 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 (cs)
|
| 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 (cs)
- Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer (en)
|
| skos:prefLabel
| - 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 (cs)
- Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer (en)
|
| skos:notation
| - RIV/00209805:_____/04:00013899!RIV/2005/MZ0/L26005/N
|
| http://linked.open.../vavai/riv/strany
| |
| http://linked.open...avai/riv/aktivita
| |
| http://linked.open...avai/riv/aktivity
| - P(NC5561), P(NC6396), Z(MZ00020980501)
|
| http://linked.open...iv/cisloPeriodika
| |
| http://linked.open...vai/riv/dodaniDat
| |
| http://linked.open...aciTvurceVysledku
| |
| http://linked.open.../riv/druhVysledku
| |
| http://linked.open...iv/duvernostUdaju
| |
| http://linked.open...titaPredkladatele
| |
| http://linked.open...dnocenehoVysledku
| |
| http://linked.open...ai/riv/idVysledku
| - RIV/00209805:_____/04:00013899
|
| http://linked.open...riv/jazykVysledku
| |
| http://linked.open.../riv/klicovaSlova
| - BRCA1;missense mutations;breast cancer;ovarian cancer (en)
|
| http://linked.open.../riv/klicoveSlovo
| |
| http://linked.open...odStatuVydavatele
| - GB - Spojené království Velké Británie a Severního Irska
|
| http://linked.open...ontrolniKodProRIV
| |
| http://linked.open...i/riv/nazevZdroje
| - European journal of human genetics
|
| http://linked.open...in/vavai/riv/obor
| |
| http://linked.open...ichTvurcuVysledku
| |
| http://linked.open...cetTvurcuVysledku
| |
| http://linked.open...vavai/riv/projekt
| |
| http://linked.open...UplatneniVysledku
| |
| http://linked.open...v/svazekPeriodika
| |
| http://linked.open...iv/tvurceVysledku
| |
| http://linked.open...n/vavai/riv/zamer
| |
| issn
| |
| number of pages
| |
![[RDF Data]](/fct/images/sw-rdf-blue.png)
![[cxml]](/fct/images/cxml_doc.png)
![[csv]](/fct/images/csv_doc.png)
![[text]](/fct/images/ntriples_doc.png)
![[turtle]](/fct/images/n3turtle_doc.png)
![[ld+json]](/fct/images/jsonld_doc.png)
![[rdf+json]](/fct/images/json_doc.png)
![[rdf+xml]](/fct/images/xml_doc.png)
![[atom+xml]](/fct/images/atom_doc.png)
![[html]](/fct/images/html_doc.png)