Naslov
Genomic Instability of the APC Gene found in Glioblastoma

Autori
Pećina-Šlaus, Nives ; Beroš, Vili ; Nikuševa-Martić Tamara ; Bulić-Jakuš, Floriana

Vrsta, podvrsta i kategorija rada
Poglavlja u knjigama, znanstveni

Knjiga
Genome Research Advances

Urednik/ci
Bellini, P. Alberto

Izdavač
Nova Science Publishers

Grad
New York (NY)

Godina
2007

Raspon stranica
219-235

ISBN
978-1-60021-805-7

Ključne riječi
genomic instability, APC gene, glioblastoma, wnt signaling pathway

Sažetak
The etiology and pathogenesis of tumors of the central nervous system are still inadequately explained. This study analyses tumor suppressor gene— adenomatous polyposis coli (APC) in 28 patients with glioblastoma, the most aggressive form of glial tumors. APC protein has a structural role in adherens junctions, but also plays a signaling role as a negative regulator of the wnt pathway. Our interest in the APC gene stemmed principally from the findings that the wild-type APC protein is highly expressed in the central nervous system, and upon the finding that it is critically involved in particular syndromes, among which brain tumors play a significant role. Glioblastoma samples were tested for gene instability by PCR/loss of heterozygosity using RFLP method. Two polymorphic markers were used: an Rsa I polymorphic site in exon 11, and an Msp I polymorphic site in exon 15. The results of our analysis for both markers showed allelic loss of the APC gene in 40% of our sample out of 25 heterozygous patients (informativeness 89%). Another 20% of samples demonstrated allelic imbalance of the APC allele in tumor tissue. Altogether, there were 15 samples (60%) demonstrating instability of this tumor suppressor gene. Despite increasing knowledge on glioma biology and genetics, the prognostic tools for glioblastoma still need improvement. Our findings on genomic instability of the APC gene may contribute to better understanding of glioblastoma genetic profile and could be used as a prognostic marker of disease evolution and progression.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

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