Conclusion
The present study suggests that germline mutations in CTCF are not important as a risk factor for breast cancer.
Methods
Mutation screening of CTCF was performed by denaturing high-performance liquid chromatography followed by cycle sequencing.
Results
We found two sequence variants, 240G-->A in the 5' untranslated region and 1455C-->T (S388S) in exon 4, in five familial breast cancer cases. Three of these five cases had both variants. Cases and controls showed the same prevalence for the two variants, which were found in linkage disequilibrium in most cases and controls.