"NC7527" . "breast cancer" . "C\u00EDlem je muta\u010Dn\u00ED anal\u00FDza gen\u016F ATM a p53 u pacientek s karcinomem prsu z rizikov\u00FDch rodin; v neselektovan\u00FDch rodin\u00E1ch budou studov\u00E1na mutace genu BRCA1 5382insC specifick\u00E1 pro na\u0161i populaci. Pou\u017E\u00EDvan\u00E9 techniky zahrnuj\u00ED: extrakci genetick\u00E9ho materi\u00E1lu, amplifikac\u00ED genov\u00FDch fragment\u016F pomoc\u00ED PCR a RT-PCR, prescreening PCR produkt\u016F pomoc\u00ED PTT nebo DGGE, charakterizaci mutac\u00ED sekvenov\u00E1n\u00EDm, anal\u00FDzy LOH." . "BRCA1" . "http://www.isvav.cz/projectDetail.do?rowId=NC7527"^^ . . "2006-06-23+02:00"^^ . . "p53" . . . . "LOH" . . "breast cancer;predisposing genes;BRCA1;BRCA2;ATM;p53;LOH;Mutation analysis"@en . "6"^^ . "Study of predisposing genetic factors in breast cancer"@en . "6"^^ . . "Anal\u00FDza gen\u016F BRCA1/2 charakterizovala spektrum gen.alterac\u00ED,uk\u00E1zala na dominant. \u00FAlohu BRCA1 alely c.5385dupC u d\u011Bdi\u010Dn\u00E9 rakoviny prsu.\u00DAloha genu BRCA1 v malign\u00ED transformaci bun\u011Bk prs.\u017El\u00E1zy m\u016F\u017Ee b\u00FDt u \u017Een bez heredit.predispozice \u010Dast\u011Bj\u0161\u00ED ne\u017E p\u0159edpoklad."@cs . "ATM" . . . . . "predisposing genes" . . . "BRCA2" . "0"^^ . "Studium predispozi\u010Dn\u00EDch genetick\u00FDch faktor\u016F u karcinomu prsu" . . . "Analysis of BRCA1/2 genes demonstrated dominant role of BRCA1c.5385dupC allele in hereditary breast cancer. BRCA1 gene may be more frequently involved in malign.transformation of breast cells in non predisposed women that thought so far."@en . "1"^^ . . . "1"^^ . . . "The aim of study is mutation analysis of ATM and p53 genes in breast cancer patients from risk families. The recurrent mutation in BRCA1 gene, 5382insC, will be detected in patients not selected for a family history of cancer. Methods used in this study involte: DNA and RNA izolation, PCR and RT-PCR amplification, PTT and DGGE analyses, direct suquencing, LOH analysis."@en .