Genetic Alterations in CDH (Cadherin) Family of Genes and their Putative Association with Head and Neck Squamous Cell Carcinoma

Abstract

Background: Head and neck squamous cell carcinoma is considered to be a common type of human cancer. It is highly invasive with limited therapeutic options outside surgery, chemotherapy and radiation. Cadherin family genes comprises a family with more than 110 members which are calcium dependent transmembrane proteins which helps in cellular adhesion, signaling etc. There exist different functions of Cadherin genes in malignant cells. Uncontrolled mesenchymal- epithelial transition is seen in malignant situations where the cadherins serve as tumour suppressor genes but gets down regulated drastically to create tumour initiation and invasions. This study aims to study the association between genetic alterations in the cadherin family of genes and HNSCC patients.
 Materials and Methods: The datas were collected from a promising database, cBioportal and the demographic details of the selected individuals(HNSCC patients) were tabulated and noted. The genetic variations in the genes were analysed using GnomAD analysis, oncoprint analysis and their various genetic alterations,frequency were tabulated and represented figuratively.
 Results and Discussion: On analysing the various genetic alterations discovered in cadherin family genes of HNSCC patients, CDH2 gene showed maximum genetic alteration(%). The different genetic alterations documented were splicing, deep deletion, amplification, etc. the oncoprint data analysis shows the frequency of the types of different genetic alteration in the five genes considered, their combination with any other genetic alteration seen in the other genes along with their frequency. The graphical representation of Kaplan meier analysis, showing over expression of CDH2 genes helps understand the survival rate of HNSCC patients. These analysis and tabulated documents, figures prove the association between genetic alterations in the cadherin family of genes and HNSCC.
 Conclusion: There exists a significant association between HNSCC and genetic alterations seen in the cadherin family of genes.