BIRC5 gene polymorphisms are associated with higher stage of local and regional disease in oral and oropharyngeal squamous cell carcinomas

Mumlek, Ivan; Ozretić, Petar; Sabol, Maja; Leović, Matko; Glavaš-Obrovac, Ljubica; Leović, Dinko; Musani, Vesna (2023) BIRC5 gene polymorphisms are associated with higher stage of local and regional disease in oral and oropharyngeal squamous cell carcinomas. International Journal of Molecular Sciences, 24 (24). ISSN 1422-0067

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Official URL: http://doi.org/10.3390/ijms242417490

Abstract

Oral squamous cell carcinoma (OSCC) and oropharyngeal squamous cell carcinoma (OPSCC) are the most common types of cancers in the head and neck region (HNSCC). Despite very aggressive treatment modalities, the five-year survival rate has not changed for decades and is still around 60%. The search for potential specific biomarkers of aggressiveness or outcome indicators could be of great benefit in improving the treatment of these patients. One of the potential biomarkers is survivin, the protein product of the BIRC5 gene. In this study, we investigated the occurrence of BIRC5 gene polymorphisms in 48 patients with OSCC and OPSCC compared with healthy controls. A total of 18 polymorphisms were found, 11 of which occurred in HNSCC with a minor allele frequency (MAF) of more than 5%. Five polymorphisms (rs3764383, rs9904341, rs2071214, rs2239680, rs2661694) were significantly associated with tumor size, tumor stage, and advanced regional disease, but had no impact on survival.

Item Type:

Article

Uncontrolled Keywords:

oral squamous cell carcinoma; oropharyngeal squamous cell carcinoma; survivin; BIRC5; biomarkers

Subjects:

BIOMEDICINE AND HEALTHCARE > Basic Medical Sciences > Human Genetics, Genomics and Proteomics
BIOMEDICINE AND HEALTHCARE > Clinical Medical Sciences > Oncology

Divisions:

Division of Molecular Medicine

Projects: