Repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Report on mutation in exon 15 of the APC gene in a case of brain metastasis

Pećina-Šlaus, Nives and Majić, Željka and Musani, Vesna and Zeljko, Martina and Čupić, Hrvoje (2010) Report on mutation in exon 15 of the APC gene in a case of brain metastasis. Journal of Neuro-Oncology, 97 (1). pp. 143-8. ISSN 0167-594X

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    English abstract

    The study analyzes exon 15 of the adenomatous polyposis coli gene (APC) in a 49-year-old male patient with brain metastasis. The primary site was lung carcinoma. PCR method and direct DNA sequencing of the metastasis and autologous lymphocyte samples identified the presence of a somatic mutation. The substitution was at position 5883 G-A in the metastasis tissue. The mutation was confirmed by RFLP analysis using Msp I endonuclease, since the mutation strikes the Msp I restriction site. Immunohistochemical analysis revealed the lack of protein expression of this tumor suppressor gene. The main molecular activator of the wnt pathway, beta-catenin, was expressed, and located in the nucleus. The mutation is a silent mutation that might have consequences in the creation of a new splice site. Different single-base substitutions in APC exons need not only be evaluated by the predicted change in amino acid sequence, but rather at the nucleotide level itself. In our opinion, such silent mutations should also be incorporated in mutation detection rate and validation.

    Item Type: Article
    MeSH: Adenomatous Polyposis Coli Protein/genetics ; Adenomatous Polyposis Coli Protein/metabolism ; Brain Neoplasms/genetics ; Brain Neoplasms/metabolism ; Brain Neoplasms/secondary ; Carcinoma/genetics ; Carcinoma/pathology ; DNA Mutational Analysis/methods ; Exons/genetics ; Humans ; Lung Neoplasms/genetics ; Lung Neoplasms/pathology ; Male ; Middle Aged ; Polymorphism, Restriction Fragment Length/genetics
    Divisions: Katedra za medicinsku biologiju
    Depositing User: Marijan Šember
    Status: Published
    Pećina-Šlaus, Nives
    Majić, Željka
    Musani, Vesna
    Zeljko, Martina
    Čupić, Hrvoje
    Date: March 2010
    Date Deposited: 22 Nov 2010
    Last Modified: 23 Sep 2011 18:11
    Subjects: /
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