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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. https://doi.org/10.1007/s11060-009-0001-7
Pećina-Šlaus, Nives; Majić, Željka; Musani, Vesna; Zeljko, Martina; Čupić, Hrvoje

Institucijski repozitorij: Dr Med - digitalni repozitorij Medicinskog fakulteta Sveučilišta u Zagrebu

Citirajte ovaj rad

Pećina Šlaus, N., Majić, Ž., Musani, V., Zeljko, M. i Čupić, H. (2010). Report on mutation in exon 15 of the APC gene in a case of brain metastasis. Journal of Neuro-Oncology, 97. (1), 143-148. doi: 10.1007/s11060-009-0001-7

Pećina Šlaus, Nives, et al. "Report on mutation in exon 15 of the APC gene in a case of brain metastasis." Journal of Neuro-Oncology, vol. 97, br. 1, 2010, str. 143-148. https://doi.org/10.1007/s11060-009-0001-7

Pećina Šlaus, Nives, Željka Majić, Vesna Musani, Martina Zeljko i Hrvoje Čupić. "Report on mutation in exon 15 of the APC gene in a case of brain metastasis." Journal of Neuro-Oncology 97, br. 1 (2010): 143-148. https://doi.org/10.1007/s11060-009-0001-7

Pećina Šlaus, N., et al. (2010) 'Report on mutation in exon 15 of the APC gene in a case of brain metastasis', Journal of Neuro-Oncology, 97(1), str. 143-148. doi: 10.1007/s11060-009-0001-7

Pećina Šlaus N, Majić Ž, Musani V, Zeljko M, Čupić H. Report on mutation in exon 15 of the APC gene in a case of brain metastasis. Journal of Neuro-Oncology [Internet]. 03.2010. [pristupljeno 25.11.2024.];97(1):143-148. doi: 10.1007/s11060-009-0001-7

N. Pećina Šlaus, Ž. Majić, V. Musani, M. Zeljko i H. Čupić, "Report on mutation in exon 15 of the APC gene in a case of brain metastasis", Journal of Neuro-Oncology, vol. 97, br. 1, str. 143-148, Ožujak 2010. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:835395. [Citirano: 25.11.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:835395
Podaci o radu
Naslov (engleski)Report on mutation in exon 15 of the APC gene in a case of brain metastasis
AutorNives Pećina-Šlaus
AutorŽeljka Majić
AutorVesna Musani
AutorMartina Zeljko
AutorHrvoje Čupić
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Sažetak (engleski)
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.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Izvorni znanstveni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeZavršna verzija rukopisa prihvaćena za objavljivanje (postprint)
Naslov časopisaJournal of Neuro-Oncology
Brojčani podacivol. 97, br. 1, str. 143-148
p-ISSN0167-594X
DOIhttps://doi.org/10.1007/s11060-009-0001-7
URN:NBNurn:nbn:hr:105:835395
Datum objave publikacije2010-03
URL dokumentahttps://doi.org/10.1007/s11060-009-0001-7
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Zaštićeno autorskim pravom.
Datum i vrijeme pohrane2024-03-28 11:52:28