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Pregled bibliografske jedinice broj: 397416

Časopis

Autori: Pećina-Šlaus, Nives; Majić, Željka; Musani, Vesna; Zeljko, Martina; Čupić, Hrvoje
Naslov: Report on mutation in exon 15 of the APC gene in a case of brain metastasis
Izvornik: Journal of neuro-oncology (0167-594X) 97 (2010), 1; 143-148
Vrsta rada: članak
Ključne riječi: adenomatous polyposis coli gene ; mutation ; brain metastasis ; G to A transversion
Sažetak:
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.
Projekt / tema: 134-0000000-3381, 108-1081870-1905
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti,Kliničke medicinske znanosti
URL Internet adrese: http://www.springerlink.com/content/36l12776vm3v8445/
Broj citata:
Altmetric:
DOI: 10.1007/s11060-009-0001-7
URL cjelovitog teksta:
Google Scholar: Report on mutation in exon 15 of the APC gene in a case of brain metastasis
Upisao u CROSBI: nina@mef.hr (nina@mef.hr), 1. Lip. 2009. u 14:22 sati



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