title: A screen for germline mutations in the gene encoding CCCTC-binding factor (CTCF) in familial non-BRCA1/BRCA2 breast cancer.
abstract: 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.
authors.affiliation: Department of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
authors.forename: Xiao-Lei
authors.initials: XL
authors.lastname: Zhou
authors.forename: Barbro
authors.initials: B
authors.lastname: Werelius
authors.forename: Annika
authors.initials: A
authors.lastname: Lindblom
mesh_terms: 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
chemical_list: D020121:5' Untranslated Regions; D000076246:CCCTC-Binding Factor; C000619697:CTCF protein, human; D004268:DNA-Binding Proteins; D009363:Neoplasm Proteins; D012097:Repressor Proteins