A novel p16^INK4A mutation associated with esophageal squamous cell carcinoma in a high risk population

Abstract

This study describes identification of p16^INK4A sequence variants and their potential association with esophageal squamous cell carcinoma (ESCC) in a high risk population from Kashmir, India. We report a novel 7 base pair exon 2 deletion in 22 out of 106 (~20%) surgically resected tumor samples. The deletion beginning at the second base of codon 103, results in a frame shift causing premature termination of the protein at codon 142, with structural and functional consequences predicted by insilico analysis. The described mutation is a previously unreported variant of p16^INK4A, perhaps representing a founder mutation unique to the population.

Keywords::

• Sequence variations
• heteroduplex analysis
• deletion
• Kashmiri population

Acknowledgments

Research Associate fellowship in favor of MAQ from Department of Biotechnology (DBT), India is duly acknowledged.

Declaration of interest

The financial support for this project by Department of Science and Technology (DST), India under No. SR/SO/BB-21/2009 is gratefully acknowledged. Infrastructural Grant under FIST program and Special Assistance grant under SAP program, from DST India and UGC India is duly acknowledged.