Author/Editor     Ravnik-Glavač, Metka
Title     Molekularna genetika v diagnostiki dednega raka širokega črevesa in danke
Translated title     Molecular genetics in diagnosis of hereditary colorectal cancer
Type     članek
Source     Med Razgl
Vol. and No.     Letnik 39, št. 1
Publication year     2000
Volume     str. 85-93
Language     slo
Abstract     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 population genetics 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 population.
Summary     Že 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 roda v 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 pristopu.
Descriptors     COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS
PHENOTYPE
MUTATION
GENOTYPE
ADENOMATOUS POLYPOSIS COLI
PEUTZ-JEGHERS SYNDROME
GENETIC HETEROGENEITY