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

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

SUBMITTER: Zhou XL 

PROVIDER: S-EPMC400671 | biostudies-literature | 2004

REPOSITORIES: biostudies-literature