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Several recent studies have investigated DNA instability in malignanciesincluding deletions and duplications of part of the chromosome using array-basedcomparative genomic hybridization (CGH) analysis. Using the same approach on oralsquamous cell carcinoma (OSCC) tissue samples, we found a frequent deletion atchromosome 3q26.1 in OSCC patients; this polymorphism showed a gene frequencyof 0.293-0.368 in healthy volunteers (n=60) and 0.129-0.195 in OSCC patients (n=54).Detailed analysis around the polymorphic region revealed the deletion breakagepoint. A significant association of gene frequency for the deletion polymorphismbetween healthy volunteers and patients implicated genetic factors related tothis polymorphism in the development of OSCC. Currently, no gene is predictedto lie within the 3,606-kbp region around the polymorphism. Thus, although a single-genemodel could not explain the occurrence of OSCC, we believe that examining thispolymorphism could be useful in identifying risk factors for OSCC.

Deletion polymorphism at chromosome 3q26.1 and oral squamous cell carcinoma