Research article

A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer

Xiao-Lei Zhou, Barbro Werelius and Annika Lindblom^*

• * Corresponding author: Annika Lindblom annika.lindblom@cmm.ki.se

Author Affiliations

Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden

For all author emails, please log on.

Breast Cancer Res 2004, 6:R187-R190 doi:

Published: 9 March 2004

Abstract

Introduction

The CCCTC-binding factor (CTCF), known as a versatile transcription factor and chromatin insulator and to be involved in X inactivation, has also been suggested to be a tumour suppressor on 16q. We investigated 153 patients with familial non-BRCA1/BRCA2 breast cancer for germline mutations in the CTCF gene.

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.

Conclusion

The present study suggests that germline mutations in CTCF are not important as a risk factor for breast cancer.