Head and neck squamous cell carcinoma (HNSCC) is the most common form of cancer of the
hypopharynx, oropharynx, lip, oral depression, nasopharynx, or larynx. The transformation of a
normal cell to a cancerous one involves complex interplay of genes involved in several cellular
processes such as cell cycle arrest, DNA repair process, activation of tumor suppressors etc., The cell
cycle is a strictly controlled and integrated set of events that enables the cell to grow and proliferate
through phase G1, S, G2 and M phases. The main goal of this controlled occurrence is to ensure that
DNA is duplicated in the S phase and distributed evenly to the daughter cells. Cycline dependent
kinases (CDKs), which provide a regulated transition from one phase to the next, regulate the
completion of various phases. The present study follows a retrospective observational study design.
The source of patient’s data was procured from the cBioportal database. This database hosts an
exhaustive collection of HNSC patient’s details from different cohorts. Gene alterations identified in
the genes controlling the cell cycle process was recorded. About eight genes viz., CDKN2A (54%), CDKN2B (28%), CCND1 (24%), MYC (13%), JAK2 (7%), RB1 (6%), CDK6 (6%) and E2F5 (6%)
with the highest frequency of alterations (>5%) were further analyzed for their gene expression
profile. Except for the MYC gene all other genes showed a differential expression pattern which was
statistically significant. Furthermore, survival curve analysis was carried out for the seven genes
displaying an increase in gene expression relative to that of the normal tissue. Out of the seven genes
only two genes CCND1 and CDKN2A significantly influenced the survival probability of HNSCC
patients. Thus the present study identifies CCND1 and CDKN2A as the candidate genes showing a
strong association with HNSCC. However, further experimental validation of the results are
warranted to confirm the role of these genetic alterations with the development and progression of
HNSCC.
Keywords: Cell cycle control genes, head and neck squamous cell carcinoma, cyclin dependent
kinases, amplification, deletions, variants
Publication date: 01/08/2021
https://ijbpas.com/pdf/2021/August/MS_IJBPAS_2021_AUG_SPCL_1029.pdf
Download PDF
https://doi.org/10.31032/IJBPAS/2021/10.8.1029
