Decoding the Genetic Alteration in Genes of PARP Family and the Possible Association with HNSCC
Harita Ravikumar
Department of Microbiology, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Chennai - 600 077, Tamil Nadu, India.
J. Vijayashree Priyadharsini *
Department of Microbiology, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Chennai - 600 077, Tamil Nadu, India.
A. S. Smiline Girija
Department of Microbiology, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Chennai - 600 077, Tamil Nadu, India.
P. Sankar Ganesh
Department of Microbiology, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Chennai - 600 077, Tamil Nadu, India.
Nidhi Poddar
Clinical Genetics Laboratory, Saveetha Dental College and Hospital, Saveetha Institute of Medical and Technical Sciences, Chennai - 600 077, Tamil Nadu, India.
*Author to whom correspondence should be addressed.
Abstract
Introduction: Genetic alterations have long been associated with the transformation of normal cells into malignant cells. Several genes are related to exhibiting the phenotype. The PARP gene family is mainly involved in maintaining genome stability. They play an important role in DNA repair and the programmed cell death process.
Aim: To analyse the genetic alteration in PARP family and to determine its association with HNSCC.
Materials and Methods: Cbioportal was used as the primary database for identifying the mutations and variations. The data generated in the form of oncoprint was further assessed for frequency of occurrence, type and novelty.
Results and Discussion: It can be observed that greater amplification was found in the TIPARP gene which is 14% among all the 17 genes of the family. Also to add on, PARP 14 and PARP 15 show amplification patterns in similar groups of patients. Several types of mutations such as truncated, splicing deep deletion were found in most of the genes. The TIPARP gene was up-regulated in HNSCC patients. The Caucasians experiencing low/medium expression of TIPARP showed greater rates of survival than highly expressed African Americans. Similarly, males presenting with low or medium expression of TIPARP showed a greater rate of survival than the highly expressed females.
Conclusion: TIPARP could be a promising prognostic marker for screening populations vulnerable to acquiring HNSCC.
Keywords: HNSCC, PARP gene family, genetic alteration, gene expression, novel variants, polymorphism, innovative techniques, innovative technologies