Author/Editor		Ravnik-Glavač, Metka; Potočnik, Uroš; Koželj, Matjaž; Križman, Igor; Glavač, Damjan
Title		Molekularna genetska analiza dednega kolorektalnega raka v slovenski populaciji
Type		članek
Source		Gastroenterolog
Vol. and No.		Letnik 1, št. 2
Publication year		1997
Volume		str. 20-4, 29
Language		slo
Abstract		Introduction There are two main forms of hereditary coloractal cancer (CRC): Familial Adenomatous Polyposis (FAP) and Hereditary Non-Polyposis Colorectal Cancer (HNPCC). Recently, some responsible genes have been cloned and characterized. In this study we analyzed genetically 28 Slovenian families with potential hereditary forms of CRC. Marerial and methods. The main criteria for selection of families were: at least two first degree affected relatives and early onset of the disease. PCR - HRC analysies of APC, hMLX 7 and hMSH2 genes were performed for all affected members in CRC families. Nucleotide changes were determined by dideoxy nucleotide termination method. Results. We have detected new mutations and several new polymorphisms. Mutations have been found in exons 3,5,6,13 and 15 of the hMSH2 gene. Family members have been screened for they carrier status. Conclusion. Hereditary CRC is one of the most common cancer predisposition syndromes in Western World. Identification of families and carriers is therefore extremely important, because periodic examination may prevent development of disease and cancer related death.
Descriptors		COLORECTAL NEOPLASMS, HEREDITARY NONPOLYPOSIS ADENOMATOUS POLYPOSIS COLI GENETICS, BIOCHEMICAL POLYMERASE CHAIN REACTION BASE SEQUENCE GENES, SUPPRESSOR, TUMOR