Journal of Molecular Pathology
Gene and Isoform Misassignment Among Candidate TP53 and CDKN2A Variants of Uncertain Significance in Oral Squamous Cell Carcinoma: A Public-Database Curation Study
By Spoorthi Ravi Banavar, Prashanthi Chippagiri and Suan Phaik Khoo.
Abstract
Background
Variants of uncertain significance (VUSs) in TP53 and CDKN2A are reported often in oral squamous cell carcinoma (OSCC), yet variant-level evidence tends to lag behind established gene-level associations. Candidate variant lists compiled by automated literature synthesis, registry mining, or AI-assisted extraction carry a risk of gene-level or transcript-level mis-annotation that is not widely recognized.



