A novel p16(INK4A) mutation associated with esophageal squamous cell carcinoma in a high risk population.
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.
Department of Biotechnology, University of Kashmir, Hazratbal, Srinagar, India.
Meenu Asaas
MA
Qureshi
Nishawar
N
Jan
Nazir Ahmed
NA
Dar
Mahboobul
M
Hussain
Khurshid Iqbal
KI
Andrabi
D001483:Base Sequence; D002294:Carcinoma, Squamous Cell / Q000235:genetics*; D051361:Cyclin-Dependent Kinase 6 / Q000737:chemistry; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D004252:DNA Mutational Analysis; D004938:Esophageal Neoplasms / Q000235:genetics*; D005091:Exons; D018703:Founder Effect; D016368:Frameshift Mutation; D056726:Genetic Association Studies; D006801:Humans; D007194:India; D008958:Models, Molecular; D011153:Population; D011485:Protein Binding; D017433:Protein Structure, Secondary; D012307:Risk Factors; D017384:Sequence Deletion; D040681:Structural Homology, Protein; D013816:Thermodynamics
D019941:Cyclin-Dependent Kinase Inhibitor p16; C495911:CDK6 protein, human; D051361:Cyclin-Dependent Kinase 6