Avtor/Urednik		Potočnik, Uroš; Ravnik-Glavač, Metka; Glavač, Damjan
Naslov		Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability
Tip		članek
Vir		Cell Mol Biol Lett
Vol. in št.		Letnik 7, št. 1
Leto izdaje		2002
Obseg		str. 92-5
Jezik		eng
Abstrakt		The multidrug resistance 1 (MDRl ) gene and transcription factor 4 (TCF4) gene are suggested to be involved in the WNT signalling pathway, the most important pathway altered in colorectal cancer. Mutations inboth genes have been identified and associated with colorectal tumors exhibiting high microsatellite instability (MSI-H), In this study, we report on the distribution of functional polymorphisms in the MDRl gene and somatic frameshift mutations in the TCF4 gene coding mononucleotide repetition in 62 MSI-H colorectal tumors. Somatic frameshift mutations in(of) the TCF4 gene were identified in 24/62 (39%) of the studied MSI-H tumors. The estimated allele frequencies of functional polymorphisms in(of) exon 21 (2677 G>T, A1a893Ser) and exon 26 (3435 C>T, Ilel142I1e) of the MDRl gene were 0.42 and 0.46 in the controls and 0.54 (p=0.035) and 0.60 (p=0.017) in the MSI-H tumors. However, the allele frequency of both functional MDRI polymorphisms did not significantly differ between MSI-H tumors with TCF4 mutations and those without. These results support the involvement of the MDRl gene in the tumorgenesis of MSI-H tumors and also suggest that functional polymorphisms in the MDRl gene and mutations in the TCF4 gene are likely to occur independently in MSI-H tumors.
Deskriptorji		COLORECTAL NEOPLASMS GENES, MDR MICROSATELLITE REPEATS MUTATION POLYMORPHISM (GENETICS) DNA MUTATIONAL ANALYSIS MUTAGENESIS POLYMERASE CHAIN REACTION TRANSCRIPTION FACTORS ALLELES