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Journal of Neuro-Oncology
Article . 2009 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Report on mutation in exon 15 of the APC gene in a case of brain metastasis

Authors: Pećina-Šlaus, Nives; Majić, Željka; Musani, Vesna; Zeljko, Martina; Čupić, Hrvoje;

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

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.

Country
Croatia
Keywords

Male, Lung Neoplasms/genetics, Lung Neoplasms, 572, Adenomatous Polyposis Coli Protein, DNA Mutational Analysis, DNA Mutational Analysis/methods, /, G to A transversion, Exons/genetics, Clinical Medical Sciences, Lung Neoplasms/pathology, Humans, brain metastasis, Adenomatous Polyposis Coli Protein/genetics, Biomedicine and Health Sciences, Carcinoma/pathology, Brain Neoplasms/genetics, Brain Neoplasms, Adenomatous Polyposis Coli Protein/metabolism, Carcinoma, Exons, adenomatous polyposis coli gene ; mutation ; brain metastasis ; G to A transversion, Middle Aged, Carcinoma/genetics, Kliničke medicinske znanosti, Biomedicina i zdravstvo, Adenomatous polyposis coli gene; mutation; brain metastasis; G– A transversion, Brain Neoplasms/secondary, adenomatous polyposis coli gene, mutation, Polymorphism, Restriction Fragment Length/genetics, Polymorphism, Restriction Fragment Length, Brain Neoplasms/metabolism

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
14
Average
Average
Average
Green