Author/Editor | Potočnik, Uroš; Glavač, Damjan; Ravnik-Glavač, Metka | |
Title | Identification of novel genes with somatic frameshift mutations within coding mononucleotide repeats in colorectal tumors with high microsatellite instability | |
Type | članek | |
Source | Genes Chromosomes Cancer | |
Vol. and No. | Letnik 36 | |
Publication year | 2003 | |
Volume | str. 48-56 | |
Language | eng | |
Abstract | We have systematically retrieved genes with coding mononucleotide repeats from sequence databases and analyzed them for mutations in tumors with high levels of microsatellite instability (MSI-H). We found somatic frameshift mutations in 7/ I 3 genes previously not analyzed in MSI-H tumors. According to the frequency of mutations in MSI-H tumors, these genes could be divided into genes with high coding mononucleotide repeat instability (CMRI-H) and genes with low coding mononucleotide instability (CMRI-L). CMR-H genes were mutated in more than 9/38 and CMRI-L in less than 4/38 of MSI-H tumors. Four genes in our study were CMRI-H and could thus possibly play a role in the development of MSI-H tumors: TFE3 (9/38), TEF4 ( I 2/38), RGS 12 ( I I /38), and TCFI ( I 2/38). Our results suggest that systematic identification of genes with CMR in the sequence databases and determination of mutation frequency in MSI-H tumors might be a powerful tool for identification of new molecular targets in the development of MSI-H tumors. | |
Descriptors | FRAMESHIFT MUTATION MICROSATELLITE REPEATS NUCLEOTIDES COLORECTAL NEOPLASMS ADENOCARCINOMA SEX FACTORS DATABASES, FACTUAL INTESTINAL MUCOSA |