
pmid: 19711014
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.
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
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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