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Tytuł oryginału: Functional MDR1 polymorphisms (G2677T and C3435T) and TCF4 mutations in colorectal tumors with high microsatellite instability.
Autorzy: Potocnik Uros, Ravnik-Glavac Metka, Glavac Damjan
Źródło: Cell. Mol. Biol. Lett. 2002: 7 (1) s.93-95, tab., bibliogr. 7 poz. - Międzynarodowa konferencja pt. Nauki przyrodnicze 2001 Gozd Martuljek 22-26.09. 2001
Sygnatura GBL: 306,513

Hasła klasyfikacyjne GBL:
  • genetyka
  • gastroenterologia
  • onkologia

    Typ dokumentu:
  • praca kliniczna
  • praca związana ze zjazdem
  • tytuł obcojęzyczny

    Wskaźnik treści:
  • ludzie

    Streszczenie angielskie: The multidrug resistance 1 (MDR) gene and transcription factor 4 (TCF4) gene are suggested to be involved in the WNT signalling pathwey, the most important patway altered in colorectal cancer. Mutations in both genes have been identified and associated with colorectal tumors exahibiting high microsatellite instability (MSI-H). In this study, we report on the distribution of functional polymorphism in the MDR1 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 p.c.) of the studied MSI-H tumors. The estimatd allele frequencies of functional polymorphisms in(of) exon 21 (2677 G T, Ala893Ser) and exon 26 (3435 C T, Ile1142Ile) of the MDR1 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 MDR1 polymorphisms did not significantly differ between MSI-H tumors with TCF4 mutations and those without. These results support the involvement of the MDR1 gene in the tumorgenesis of MSI-H tumors and also suggest that functional polymorphisms in the MDR1 gene and mutations in the TCF4 gene are likely to occur independently in MSI-H tumors.

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