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No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p

Artikel i vetenskaplig tidskrift
Författare Annika Bergman
Frida Abel
Afrouz Behboudi
Maria Yhr
Jan Mattsson
J. H. Svensson
Per Karlsson
Margareta Nordling
Publicerad i BMC Med Genet
Volym 9
Nummer/häfte 1
Sidor 108
ISSN 1471-2350 (Electronic)
Publiceringsår 2008
Publicerad vid Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik
Institutionen för kliniska vetenskaper, Avdelningen för kirurgi
Institutionen för kliniska vetenskaper
Sidor 108
Språk en
Länkar dx.doi.org/10.1186/1471-2350-9-108
Ämnesord hereditär, bröstcancer, Breast Neoplasms, genetics, Chromosomes, Human, Pair 19, Female, Genes, BRCA1, Genes, BRCA2, Germ-Line Mutation, Humans, Linkage (Genetics), Matrix Attachment Region Binding Proteins, genetics, Nuclear Matrix-Associated Proteins, genetics, Nucleic Acid Amplification Techniques, Polymerase Chain Reaction, Receptors, Estrogen, genetics, Sequence Analysis, DNA, Sweden
Ämneskategorier Medicinsk genetik, Cancer och onkologi

Sammanfattning

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.

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