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Description
| - 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 (en)
- 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 (cs)
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Title
| - 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 (en)
- BRCA1 a BRCA2 mutace u žen s familiárním nebo časným výskytem nádorů prsu/ovária v České republice (cs)
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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 (en)
- BRCA1 a BRCA2 mutace u žen s familiárním nebo časným výskytem nádorů prsu/ovária v České republice (cs)
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skos:notation
| - RIV/00209805:_____/04:00012673!RIV/2005/MZ0/L26005/N
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http://linked.open.../vavai/riv/strany
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http://linked.open...avai/riv/aktivita
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http://linked.open...avai/riv/aktivity
| - P(NC5561), P(NC6396), Z(MZ00020980501)
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http://linked.open...iv/cisloPeriodika
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http://linked.open...vai/riv/dodaniDat
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http://linked.open...aciTvurceVysledku
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http://linked.open.../riv/druhVysledku
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http://linked.open...iv/duvernostUdaju
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http://linked.open...titaPredkladatele
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http://linked.open...dnocenehoVysledku
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http://linked.open...ai/riv/idVysledku
| - RIV/00209805:_____/04:00012673
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http://linked.open...riv/jazykVysledku
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http://linked.open.../riv/klicovaSlova
| - BRCA1;BRCA2, mutation analysis;protein truncation test;heteroduplex analysis;direct sequencing;breast cancer;ovarian cancer;Czech (en)
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http://linked.open.../riv/klicoveSlovo
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http://linked.open...odStatuVydavatele
| - US - Spojené státy americké
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http://linked.open...ontrolniKodProRIV
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http://linked.open...i/riv/nazevZdroje
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http://linked.open...in/vavai/riv/obor
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http://linked.open...ichTvurcuVysledku
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http://linked.open...cetTvurcuVysledku
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http://linked.open...vavai/riv/projekt
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http://linked.open...UplatneniVysledku
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http://linked.open...v/svazekPeriodika
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http://linked.open...iv/tvurceVysledku
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http://linked.open...n/vavai/riv/zamer
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issn
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number of pages
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