. "[A002BB62F3E7]" . . "573757" . "Missense mutace v oblasti RING finger dom\u00E9ny BRCA1 genu detekovan\u00E9 u vysoce rizikov\u00FDch \u010Desk\u00FDch pacientek s heredit\u00E1rn\u00EDm n\u00E1dorem prsu a ovaria"@cs . "RIV/00209805:_____/04:00013899!RIV/2005/MZ0/L26005/N" . "1"^^ . . . "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 . "GB - Spojen\u00E9 kr\u00E1lovstv\u00ED Velk\u00E9 Brit\u00E1nie a Severn\u00EDho Irska" . "Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer"@en . "suppl. 1" . "RIV/00209805:_____/04:00013899" . . . . . "177" . . . "P(NC5561), P(NC6396), Z(MZ00020980501)" . "Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer" . . "European journal of human genetics" . "5"^^ . . "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" . . "6"^^ . "BRCA1;missense mutations;breast cancer;ovarian cancer"@en . "Z\u00E1rode\u010Dn\u00E9 mutace ve vysoce penetrantn\u00EDm genu BRCA1 zp\u016Fsobuj\u00ED predispozici k n\u00E1dor\u016Fm prsu a ovaria. Mutace, kter\u00E9 zp\u016Fsobuj\u00ED stop kodon, jsou pova\u017Eov\u00E1ny za patogenn\u00ED. Rozli\u0161en\u00ED patogenn\u00EDch missense mutac\u00ED od polymorfism\u016F je slo\u017Eit\u00E9. T\u0159i r\u016Fzn\u00E9 missense mutace lokalizovan\u00E9 v konzervovan\u00E9 oblasti C3HC4RING finger dom\u00E9ny BRCA1 genu byly opakovan\u011B nalezeny v \u010Desk\u00FDch rizikov\u00FDch rodin\u00E1ch s n\u00E1dory 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 nach\u00E1zena \u010Dasto a mnoha autory bylo potvrzeno, \u017Ee segreguje s onemocn\u011Bn\u00EDm v r\u016Fzn\u00FDch rodin\u00E1ch s n\u00E1dory prsu. Mutace p.Met18Lys byla nalezena ve 3 \u010Desk\u00FDch rodin\u00E1ch a nebyla zat\u00EDm publikov\u00E1na v BIC datab\u00E1zi. Mutace p.Cys39Arg byla nalezena tak\u00E9 ve t\u0159ech \u010Desk\u00FDch rodin\u00E1ch a v BIC datab\u00E1zi je zm\u00EDn\u011Bna jen dvakr\u00E1t. \u017D\u00E1dn\u00E1 z t\u011Bchto mutac\u00ED nebyla nalezena v kontroln\u00ED populaci 50 zdrav\u00FDch postmenopaus\u00E1ln\u00EDch \u017Een bez osobn\u00ED a rodinn\u00E9 anamn\u00E9zy n\u00E1dorov\u00FDch onemocn\u011Bn\u00ED"@cs . "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 dom\u00E9ny BRCA1 genu detekovan\u00E9 u vysoce rizikov\u00FDch \u010Desk\u00FDch pacientek s heredit\u00E1rn\u00EDm n\u00E1dorem prsu a ovaria"@cs . "17" . . "Missense mutations within RING finger domain of BRCA1 gene detected in high risk Czech patients with hereditary breast and ovarian cancer"@en . "1018-4813" . . . "Foretov\u00E1, Lenka" . . . .