Genomic analysis of the 55 kDa subunit of DNA polymerase epsilon in human intracranial neoplasms.

Background: Defects of some DNA polymerases have shown cancer associations, but there are only limited data on DNA polymerase (Pol) epsilon.
Materials and Methods: We examined 26 human brain neoplasm DNA samples and 8 control blood samples (from Poland) for possible mutations in the entire coding region of the 55 kDa small subunit of human DNA Pol epsilon gene using polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis, and sequence analysis of DNA.
Results: One single base intronic transition in intron 14 was found. The AATT deletion previously found in some breast and colorectal tumors was not found in samples from brain neoplasms or controls, but it was found in 1/100 normal blood samples from South-West Finland.
Conclusion: We found no evidence that potential mutations in the 55 kDa subunit of DNA Pol epsilon are a contributing factor in the development of the tested cases of human intracranial tumors.