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Updated: May 21, 2026

Modeling Oral-Esophageal Squamous Cell Carcinoma in 3D Organoids
Published on: December 23, 2022
A novel p16(INK4A) mutation associated with esophageal squamous cell carcinoma in a high risk population
Meenu Asaas Qureshi1, Nishawar Jan, Nazir Ahmed Dar
1Department of Biotechnology, University of Kashmir, Hazratbal, Srinagar, India.
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.
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