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izvor podataka: crosbi

Report on mutation in exon 15 of the APC gene in a case of brain metastasis (CROSBI ID 150639)

Prilog u časopisu | izvorni znanstveni rad | međunarodna recenzija

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 // Journal of neuro-oncology, 97 (2010), 1; 143-148. doi: 10.1007/s11060-009-0001-7

Podaci o odgovornosti

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

engleski

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

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.

adenomatous polyposis coli gene ; mutation ; brain metastasis ; G to A transversion

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Podaci o izdanju

97 (1)

2010.

143-148

objavljeno

0167-594X

10.1007/s11060-009-0001-7

Povezanost rada

Temeljne medicinske znanosti, Kliničke medicinske znanosti

Poveznice
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