Change search
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden.
Show others and affiliations
2008 (English)In: BMC Medical Genetics, ISSN 1471-2350, E-ISSN 1471-2350, Vol. 9Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
BioMed Central, 2008. Vol. 9
Keywords [en]
estrogen receptor, matrix attachment region binding protein, nuclear matrix protein, SAFB protein, human, SAFB2 protein, human, article, breast tumor, chromosome 19, DNA sequence, female, genetic linkage, genetics, human, mutation, nucleic acid amplification, polymerase chain reaction, Sweden, tumor suppressor gene, Breast Neoplasms, Chromosomes, Human, Pair 19, Genes, BRCA1, Genes, BRCA2, Germ-Line Mutation, Humans, Linkage (Genetics), Matrix Attachment Region Binding Proteins, Nuclear Matrix-Associated Proteins, Nucleic Acid Amplification Techniques, Receptors, Estrogen, Sequence Analysis, DNA
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:hj:diva-39621DOI: 10.1186/1471-2350-9-108ISI: 000263124200001PubMedID: 19077293Scopus ID: 2-s2.0-59449100380OAI: oai:DiVA.org:hj-39621DiVA, id: diva2:1211782
Available from: 2018-05-31 Created: 2018-05-31 Last updated: 2018-05-31Bibliographically approved

Open Access in DiVA

No full text in DiVA

Other links

Publisher's full textPubMedScopus

Authority records BETA

Bergman, Annika

Search in DiVA

By author/editor
Bergman, Annika
In the same journal
BMC Medical Genetics
Medical Genetics

Search outside of DiVA

GoogleGoogle Scholar

doi
pubmed
urn-nbn

Altmetric score

doi
pubmed
urn-nbn
Total: 5 hits
CiteExportLink to record
Permanent link

Direct link
Cite
Citation style
  • apa
  • harvard1
  • ieee
  • modern-language-association-8th-edition
  • vancouver
  • Other style
More styles
Language
  • de-DE
  • en-GB
  • en-US
  • fi-FI
  • nn-NO
  • nn-NB
  • sv-SE
  • Other locale
More languages
Output format
  • html
  • text
  • asciidoc
  • rtf