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

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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.

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Acknowledgment

This work was supported by grant 108-1081870-1905 from Ministry of Science Sports and Education, Republic of Croatia.

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Authors and Affiliations

  1. Laboratory of Neurooncology, Croatian Institute for Brain Research, School of Medicine University of Zagreb, Šalata 12, 10000, Zagreb, Croatia

    Nives Pećina-Šlaus, Željka Majić & Martina Zeljko

  2. Department of Biology, School of Medicine University of Zagreb, Šalata 3, 10000, Zagreb, Croatia

    Nives Pećina-Šlaus

  3. Division of Molecular Medicine, Laboratory for Hereditary Cancer, Ruđer Bošković Institute, Bijenička c, 10000, Zagreb, Croatia

    Vesna Musani

  4. Ljudevit Jurak Department of Pathology, University Hospital “Sisters of Charity”, Vinogradska 29, 10000, Zagreb, Croatia

    Hrvoje Čupić

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  1. Nives Pećina-Šlaus
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  2. Željka Majić
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  4. Martina Zeljko
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  5. Hrvoje Čupić
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Correspondence to Nives Pećina-Šlaus.

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Pećina-Šlaus, N., Majić, Ž., Musani, V. et al. Report on mutation in exon 15 of the APC gene in a case of brain metastasis. J Neurooncol 97, 143–148 (2010). https://doi.org/10.1007/s11060-009-0001-7

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  • DOI: https://doi.org/10.1007/s11060-009-0001-7

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