Title:Impact of Liver Cancer Somatic Mutations on Protein Structures and Functions
VOLUME: 18 ISSUE: 2
Author(s):Amna Amin Sethi and Nisar Ahmed Shar*
Affiliation:Department of Biomedical Engineering, NED University of Engineering & Technology, Karachi, Department of Biomedical Engineering, NED University of Engineering & Technology, Karachi
Keywords:Amino acids, mutations, liver cancer, grantham’s distance, replacement, hepatocellular carcinoma (HCC).
Abstract:Background: Cancers result due to the dysregulation of gene expression. They can be
identified on the basis of driver mutations and genetic signatures. Proteins are macromolecules that
regulate the structure and function of body organs. Missense somatic mutations play a critical role
in the development of cancer by altering the underlying properties of corresponding proteins. The
extent to which the chemical properties and composition of amino acid are changed in cancer is
still under investigation.
Objective: The main objective of this study is to identify amino acid changes that might be responsible
for causing liver cancer. It also aims to identify frequently mutated genes associated with liver
cancer.
Methods: The mutation data of Hepatocellular Carcinoma (HCC) in coding variants was retrieved
from COSMIC (Catalogue of Somatic Mutations in Cancer) databases. Different bioinformatics
tools were used to study genetic alterations at the protein level. The identified amino acid replacements
were compared with Grantham’s distance to determine similarity/ dissimilarity between substituted
amino acids.
Results: The results show that TP53, CTNNB1, MUC16, PCLO, and TTN genes were frequently
mutated in liver cancer. This study also reveals that the non-synonymous mutations, in analyzed dataset,
cause loss of Alanine.
Conclusion: The amino acid replacements, identified in this study, may act as signatures for early
diagnosis of liver cancer. They may also be helpful in understanding the development of liver cancer.
