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The role of BIRC5 polymorphisms in oral and oropharyngeal squamous cell carcinoma

Musani, Vesna; Levačić Cvok, Mirela; Ozretić, Petar; Čonda, Martina; Leović, Dinko; Levanat, Sonja
The role of BIRC5 polymorphisms in oral and oropharyngeal squamous cell carcinoma // European Journal of Human Genetics
Milano: Nature Publishing Group, 2014. str. 238-238 (poster, međunarodna recenzija, sažetak, znanstveni)

The role of BIRC5 polymorphisms in oral and oropharyngeal squamous cell carcinoma

Musani, Vesna ; Levačić Cvok, Mirela ; Ozretić, Petar ; Čonda, Martina ; Leović, Dinko ; Levanat, Sonja

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

European Journal of Human Genetics / - Milano : Nature Publishing Group, 2014, 238-238

European Human Genetics Conference 2014

Mjesto i datum
Milano, Italija, 31.05.-03.06.2014

Vrsta sudjelovanja

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
BIRC5 gene; polymorphisms; oral and oropharyngeal Squamous Cell Carcinoma

Survivin, encoded by BIRC5 gene, belongs to the family of inhibitors of apoptosis (IAP) proteins. In healthy organisms it is not expressed in differentiated tissues, while its expression is markedly increased in tumors. BIRC5 polymorphisms have been previously associated with increased expression, stability and localization of survivin, all of which can affect tumor development. In this study we investigated the role of BIRC5 polymorphisms in oral and oropharyngeal squamous cell carcinoma. Genetic testing of 38 patients and 74 healthy controls was conducted using high resolution melting analysis and Sanger sequencing. Results showed different significance of individual BIRC5 polymorphisms. c.-235G>A showed significantly higher frequency in patients compared to control samples. For c.-644T>C and c.-625G>C, minor homozygous genotypes were significantly associated with higher Broders’ grade, which was also observed for c.-235G>A. The minor homozygous genotypes of either c.9194G>A or c.9809T>C were associated with higher TNM stage. For c.-644T>C and c.-625G>C, the presence of minor allele was associated with higher survivin mRNA expression. Besides eight frequent, six rare polymorphisms were found, c.9349G>C found in 3' UTR previously unpublished. This was the first study in Croatia which demonstrated correlation between BIRC5 polymorphisms with the level of survivin expression and the risk of oral and oropharyngeal squamous cell carcinoma. Since it is known that increased expression of survivin is associated with increased resistance to chemotherapy and radiation, as well with poorer survival, BIRC5 polymorphisms could be used as predictive and prognostic biomarkers in the etiology of head and neck squamous cell cancer.

Izvorni jezik

Znanstvena područja
Temeljne medicinske znanosti


Projekt / tema
098-0982464-2461 - Prijenos signala u tumorima: Hh-Gli put, interakcije i potencijalne terapije (Sonja Levanat, )

Institut "Ruđer Bošković", Zagreb

Časopis indeksira:

  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus