149 KB28 KB199420252000Ravnik-Glavač, Metkaštevilka:1letnik:39str. 85-93ISSN:0025-8121COBISSID:11475417URN:URN:NBN:SI:doc-AUICTYMYslMedicinski razglediMedicinski razglediAdenomatous polyposis coliColorectal neoplasms, hereditary nonpolyposisdankadebelo črevoDiagnosisdiagnostikaGenetic heterogeneityGeneticsGenotypemolekularna genetikaMutationPeutz-jeghers syndromePhenotyperak (medicina)Molekularna genetika v diagnostiki dednega raka širokega črevesa in danke| Molecular genetics in diagnosis of hereditary colorectal cancer|A family with autosomal dominant cancer was first reported one century ago. The hereditary nature of some forms of colorectal cancer was confirmed less than 10 years ago by the detection of mutations associated with genetic predispositions to mendelian colorectal cancer. The paper presents several hereditary types of colorectal carcinoma, as well as their phenotypic and genetic characteristics, which allow for differential diagnosis of various syndromes. The role of molecular genetic technology in familial and populationgenetics is stressed. The paper describes the molecular genetic technique used at the Laboratory of molecular genetics Institute of Pathology Medical Faculty Ljubljana for the identification of families with hereditary non-polyposis colorectal cancer in the Slovene populationŽe skoraj eno stoletje je od tega, ko je bila prvič opisana družina, v kateri se je rak dedoval na avtosomno-dominanten način. Nedvomna potrditev, da so določene vrste raka širokega črevesa in danke dedne bolezni, je prišla šele pred manj kot desetletjem, ko so bile odkrite prve mutacije, povezane z dednimi nagnjenji za rak širokega črevesa in danke, ki so se prenašale iz rodav rod po Mendlovem načinu dedovanja. V prispevku so opisane dedne oblike raka širokega črevesa in danke ter njihove fenotipske in genetske značilnosti,ki omogočajo razlikovanje med posameznimi sindromi. Obravnavan je pomen molekularnogenetske analize za posamezno družino in za širšo družbo. Opisan je naš način za prepoznavanje družin z dednim nepolipoznim rakom širokega črevesa in danke v slovenski populaciji, ki temelji zgolj na molekularnogenetskem pristopuTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaDruštvo Medicinski razgledi