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


CONCLUSIONS
The present study suggests that germline mutations in CTCF are not important as a risk factor for breast cancer.
Zhou
Xiao-Lei
XL
Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Werelius
Barbro
B
Lindblom
Annika
A
D020121:5' Untranslated Regions / Q000235:genetics; D000328:Adult; D001943:Breast Neoplasms / Q000453:epidemiology / Q000235:genetics*; D000076246:CCCTC-Binding Factor; D016022:Case-Control Studies; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D018095:Germ-Line Mutation; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D015810:Linkage Disequilibrium; D008875:Middle Aged; D009363:Neoplasm Proteins / Q000235:genetics*; D009386:Neoplastic Syndromes, Hereditary / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D012097:Repressor Proteins / Q000235:genetics*; D012307:Risk Factors; D013548:Sweden / Q000453:epidemiology
D020121:5' Untranslated Regions; D000076246:CCCTC-Binding Factor; C000619697:CTCF protein, human; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D012097:Repressor Proteins