. "Foretov\u00E1, Lenka" . "Heredit\u00E1rn\u00ED n\u00E1dorov\u00E1 onemocn\u011Bn\u00ED"@cs . "Mlad\u00E1 fronta" . . . . "Mach\u00E1\u010Dkov\u00E1, Eva" . . "Hereditary tumour diseases"@en . "978-80-204-3236-0" . "germinal mutation; high penetrance; familiar incidence; genetic testing"@en . "D\u011Bdi\u010Dn\u00E9 n\u00E1dorov\u00E9 syndromy p\u0159edstavuj\u00ED jen asi 5-10 % v\u0161ech n\u00E1dorov\u00FDch onemocn\u011Bn\u00ED. Projevuj\u00ED se \u010Dast\u00FDm v\u00FDskytem ur\u010Dit\u00FDch typ\u016F n\u00E1dor\u016F, v\u00EDce\u010Detn\u00FDmi malignitami u pacienta a mnoho\u0159entn\u00FDm v\u00FDskytem n\u00E1dor\u016F v rodin\u011B u bl\u00EDzk\u00FDch p\u0159\u00EDbuzn\u00FDch a jsou zp\u016Fsobeny tzv z\u00E1rode\u010Dnou mutac\u00ED zd\u011Bd\u011Bnou od jednoho nebo od obou z rodi\u010D\u016F. Jedn\u00E1 se p\u0159edev\u0161\u00EDm o mutace v genech reguluj\u00EDc\u00EDch bun\u011B\u010Dnou proliferaci a reparaci DNA. Penetrance z\u00E1rode\u010Dn\u00E9 mutace je velmi vysok\u00E1 a dosahuje mnohon\u00E1sobku popula\u010Dn\u00EDho rizika onemocn\u011Bn\u00ED." . "18959" . . . "[775DF5EC2636]" . "D\u011Bdi\u010Dn\u00E9 n\u00E1dorov\u00E9 syndromy p\u0159edstavuj\u00ED jen asi 5-10 % v\u0161ech n\u00E1dorov\u00FDch onemocn\u011Bn\u00ED. Projevuj\u00ED se \u010Dast\u00FDm v\u00FDskytem ur\u010Dit\u00FDch typ\u016F n\u00E1dor\u016F, v\u00EDce\u010Detn\u00FDmi malignitami u pacienta a mnoho\u0159entn\u00FDm v\u00FDskytem n\u00E1dor\u016F v rodin\u011B u bl\u00EDzk\u00FDch p\u0159\u00EDbuzn\u00FDch a jsou zp\u016Fsobeny tzv z\u00E1rode\u010Dnou mutac\u00ED zd\u011Bd\u011Bnou od jednoho nebo od obou z rodi\u010D\u016F. Jedn\u00E1 se p\u0159edev\u0161\u00EDm o mutace v genech reguluj\u00EDc\u00EDch bun\u011B\u010Dnou proliferaci a reparaci DNA. Penetrance z\u00E1rode\u010Dn\u00E9 mutace je velmi vysok\u00E1 a dosahuje mnohon\u00E1sobku popula\u010Dn\u00EDho rizika onemocn\u011Bn\u00ED."@cs . "Heredit\u00E1rn\u00ED n\u00E1dorov\u00E1 onemocn\u011Bn\u00ED" . . "Praha" . . "Molekul\u00E1rn\u00ED genetika v onkologii" . "Svoboda, Marek" . "P(ED2.1.00/03.0101)" . . . "Heredit\u00E1rn\u00ED n\u00E1dorov\u00E1 onemocn\u011Bn\u00ED"@cs . "RIV/00209805:_____/14:#0000593" . . . "184"^^ . "Hereditary tumour diseases"@en . . "40"^^ . . "RIV/00209805:_____/14:#0000593!RIV15-MSM-00209805" . . "3"^^ . "Heredit\u00E1rn\u00ED n\u00E1dorov\u00E1 onemocn\u011Bn\u00ED" . . "4"^^ . "Heredity oncologiccal syndromes represent only 5-10 % of all neoplasias. They manifest by higher frequency of certain types of tumors, multiple malignancies in patients and frequent incidence of tumors in patient\u00B4s family and relatives. They are caused by germinal mutations inherited from one or both parents. These mutations mainly affect genes involved in the regulation of cellular proliferation and DNA reparation. The penetrance of mutations is high multiply exceeding population risk of the disease."@en . .