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.
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Abbreviations
- CTCF:
-
CCCTC-binding factor
- DHPLC:
-
denaturing high-performance liquid chromatography
- LOH:
-
loss of heterozygosity
- RT–PCR:
-
reverse transcriptase–polymerase chain reaction.
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Acknowledgements
We thank the families for their cooperation, and Victor Lobanenkov for valuable discussions. The study was financed by the Swedish Cancer Society, the Stockholm Cancer Society and the Gustav V Jubilee Foundation.
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Zhou, XL., Werelius, B. & Lindblom, A. A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer. Breast Cancer Res 6, R187 (2004). https://doi.org/10.1186/bcr774
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DOI: https://doi.org/10.1186/bcr774