"BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic"@en . "P(NC5561), P(NC6396), Z(MZ00020980501)" . "7"^^ . "556537" . "RIV/00209805:_____/04:00012673!RIV/2005/MZ0/L26005/N" . "RIV/00209805:_____/04:00012673" . "7"^^ . . . "BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic"@en . . "23" . "4" . . "2"^^ . "Z\u00E1rode\u010Dn\u00E9 mutace v BRCA1 a BRCA2 genech jsou zodpov\u011Bdn\u00E9 za v\u011Bt\u0161inu heredit\u00E1rn\u00EDch n\u00E1dor\u016F prsu a ovaria. Kompletn\u00ED anal\u00FDza k\u00F3duj\u00EDc\u00EDch sekvenc\u00ED obou gen\u016F byla provedena u 197 pacientek s karcinomem prsu/ovaria z vysoce rizikov\u00FDch rodin a u 53 pacientek se sporadick\u00FDm karcinomem prsu/ovaria. Celkem bylo nalezeno 59 mutac\u00ED ( 16 r\u016Fzn\u00FDch) v genu BRCA1 a 29 mutac\u00ED ( 17 r\u016Fzn\u00FDch) v genu BRCA2 u nep\u0159\u00EDbuzn\u00FDch pacientek s n\u00E1dorem prsu nebo ovaria. Nej\u010Dast\u011Bji zji\u0161t\u011Bn\u00FDmi mutacemi v genu BRCA1 byly ( dle BIC Datab\u00E1ze) c.5385dupC (22 p\u0159\u00EDpad\u016F), c.3819-_3823delGTAAA (8 p\u0159\u00EDpad\u016F) a c.300TG (6 p\u0159\u00EDpad\u016F), v genu BRCA2 byly c.8138_8142delCCTTT (7 p\u0159\u00EDpad\u016F) a c.8765_8766delAG (7 p\u0159\u00EDpad\u016F). Celkov\u011B t\u011Bhcto 5 mutac\u00ED representovalo 56.8% ze v\u0161ech nalezen\u00FDch mutac\u00ED. \u0160irok\u00E9 spektrum mutac\u00ED bylo nalezeno v\u010Detn\u011B 4 nov\u00FDch nepublikovan\u00FDch mutac\u00ED (c.2881delA v BRCA1 genu; a c. 6677_6678delAA, c.6982dupT a c.8397_8400dupTGGG v BRCA2 genu). Patogenn\u00ED mutace byly zachyceny u 80 (40.6%) ze 197 vysoce rizikov\u00FDch rodin, u 6 (37.5%) z"@cs . . "[0D07F7ED4641]" . . . . "397; 398" . . . . . . . . . . . . "Human mutation" . "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 . "BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic" . "BRCA1 a BRCA2 mutace u \u017Een s famili\u00E1rn\u00EDm nebo \u010Dasn\u00FDm v\u00FDskytem n\u00E1dor\u016F prsu/ov\u00E1ria v \u010Cesk\u00E9 republice"@cs . . "Foretov\u00E1, Lenka" . "BRCA1 a BRCA2 mutace u \u017Een s famili\u00E1rn\u00EDm nebo \u010Dasn\u00FDm v\u00FDskytem n\u00E1dor\u016F prsu/ov\u00E1ria v \u010Cesk\u00E9 republice"@cs . "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" . "BRCA1;BRCA2, mutation analysis;protein truncation test;heteroduplex analysis;direct sequencing;breast cancer;ovarian cancer;Czech"@en . . . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . "1059-7794" . "BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic" .