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Background  The scaffold attachment factor B1 and B2 genes,  SAFB1/SAFB2  (both located on chromosome 19p13.3) have recently been suggested as tumour suppressor genes involved in breast cancer development. The assumption was based on functional properties of the two genes and loss of heterozygosity of intragenic markers in breast tumours further strengthened the postulated hypothesis. In addition, linkage studies in Swedish breast cancer families also indicate the presence of a susceptibility gene for breast cancer at the 19p locus. Somatic mutations in  SAFB1/SAFB2  have been detected in breast tumours, but to our knowledge no studies on germline mutations have been reported. In this study we investigated the possible involvement of  SAFB1/SAFB2  on familiar breast cancer by inherited mutations in either of the two genes.    Results  Mutation analysis in families showing linkage to the  SAFB1/2  locus was performed by DNA sequencing. The complete coding sequence of the two genes  SAFB1  and  SAFB2  was analyzed in germline DNA from 31 affected women. No missense or frameshift mutations were detected. One polymorphism was found in  SAFB1  and eight polymorphisms were detected in  SAFB2 . MLPA-anlysis showed that both alleles of the two genes were preserved which excludes gene inactivation by large deletions.    Conclusion   SAFB1  and  SAFB2  are not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families.

No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2in familial breast cancer with linkage to 19p