Background: Defects of some DNA polymerases have shown associations with cancer, but data on DNA polymerase epsilon are limited. This study investigated mutations in the 55 kDa subunit gene of DNA polymerase epsilon in colorectal cancer.
Materials And Methods: DNA from 16 human colorectal cancer and 9 control samples was studied with polymerase chain reaction-single-strand comformation polymorphism analysis and DNA sequencing.
Results: DNA polymerase epsilon gene alterations were identified in 5 out of the 16 cases (31.2%). Two samples showed a T-C transition at exon 17 (potential tyrosine to histidine substitution), and an A-G transition at intron 7; one sample showed an A-G transition at intron 8. An AATT deletion was observed at intron 18 in 3 out of the 16 colon cancer cases (grades 2, 3, and 2, and Dukes' classes C, D, and C, respectively).
Conclusion: Because the AATT deletion has also been found in breast cancer, the region may be a mutation hot spot, possibly involved in the carcinogenetic path in advanced colorectal cancer.
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