No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p
Artikel i vetenskaplig tidskrift, 2008
ABSTRACT: 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.
BRCA1
Nuclear Matrix-Associated Proteins
genetics
BRCA2
Pair 19
Female
Human
bröstcancer
Estrogen
genetics
Germ-Line Mutation
Chromosomes
Genes
Humans
Genes
DNA
Nucleic Acid Amplification Techniques
Breast Neoplasms
Matrix Attachment Region Binding Proteins
Linkage (Genetics)
Polymerase Chain Reaction
Sequence Analysis
Sweden
hereditär
Receptors
genetics
genetics
Författare
Annika Bergman
Göteborgs universitet
Frida Abel
Göteborgs universitet
Afrouz Behboudi
Göteborgs universitet
Maria Yhr
Göteborgs universitet
Jan Mattsson
Göteborgs universitet
J. H. Svensson
Per Karlsson
Göteborgs universitet
Margareta Nordling
Göteborgs universitet
BMC Medical Genetics
14712350 (eISSN)
Vol. 9 1 108-Ämneskategorier
Medicinsk genetik
Cancer och onkologi
DOI
10.1186/1471-2350-9-108