. "Projekt vedl k zaveden\u00ED a rovoji diagnostik\u00E9 metody kter\u00E1 umo\u017E\u0148uje rozhodnout zda-li se jedn\u00E1 o alteraci genu BRCA2, kter\u00E1 je v p\u0159\u00ED\u010Dinn\u00E9 souvislosti s n\u00E1dorov\u00FDm onemocn\u011Bn\u00EDm jak bylo anotov\u00E1no."@cs . . "A novel funcional method for identification selected BRCA2 gene variants were successfuly performed"@en . "0"^^ . "3"^^ . "3"^^ . . "1"^^ . "2013-10-31+01:00"^^ . "1"^^ . "Nov\u00E1 metoda funk\u010Dn\u00EDho hodnocen\u00ED variant v BRCA2 genu" . "BRCA2; missense variants; breast cancer; ovarian cancer; pancreatic cancer"@en . . "Those with inherited mutations in the BRCA2 gene have a higher susceptibility to breast, ovarian, pancreatic and other cancer types. The presence of a pathogenic mutation requires lifelong follow-up in order to diagnose their cancer early or even prevent it by an organ resection. Missense variants causing only a subtle change of one amino acid are commonly found. It has yet been difficult or impossible to evaluate the clinical significance of such variants. In our study, we will apply a novel in vitro technique to predict clinical significance of BRCA2 variants by evaluating them in functional assays. Application of this technique into clinical practice has a potential to influence the future management of carriers of inherited mutations in the BRCA2 gene."@en . " missense variants" . . "BRCA2" . . . "A new method for functional evaluation of variants in the BRCA2 gene"@en . . . . . " breast cancer" . . "2011-08-08+02:00"^^ . "2009-01-01+01:00"^^ . "http://www.isvav.cz/projectDetail.do?rowId=NS10536"^^ . . . "2011-12-31+01:00"^^ . . " ovarian cancer" . . "NS10536" . . "Osoby s vrozen\u00FDmi mutacemi v BRCA2 genu maj\u00ED v\u00FDrazn\u011B zv\u00FD\u0161enou pravd\u011Bpodobnost vzniku karcinomu prsu, ovari\u00ED, pankreatu \u010Di jin\u00FDch org\u00E1n\u016F. P\u0159\u00EDtomnost patogenn\u00ED mutace je d\u016Fvodem k jejich podrobn\u00E9mu sledov\u00E1n\u00ED ve snaze zachytit n\u00E1dorov\u00E9 onemocn\u011Bn\u00ED v\u010Das \u010Di dokonce k preventivn\u00EDmu odstran\u011Bn\u00ED rizikov\u00E9ho org\u00E1nu. Vedle jednozan\u010Dn\u011B patogenn\u00EDch mutac\u00ED jsou \u010Dasto zji\u0161\u0165ov\u00E1ny varianty vedouc\u00ED pouze ke zm\u011Bn\u011B jedn\u00E9 z aminokyselin, u kter\u00FDch bylo doposud obt\u00ED\u017En\u00E9 \u010Di nemo\u017En\u00E9 ur\u010Dit jejich klinick\u00FD v\u00FDznam. V na\u0161\u00ED studii budeme aplikovat nov\u011B vytvo\u0159enou funk\u010Dn\u00ED in vitro techniku ke zji\u0161t\u011Bn\u00ED funkce a klinick\u00E9ho v\u00FDznamu variant BRCA2 genu. Aplikace t\u00E9to techniky do klinick\u00E9 praxe m\u00E1 potenci\u00E1l z\u00E1sadn\u00EDm zp\u016Fsobem ovlivnit budouc\u00ED osud pacient\u016F s vrozen\u00FDmi BRCA2 mutacemi." . .