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L773:1471 2350
 

Sökning: L773:1471 2350 > No germline mutatio...

  • Bergman, AnnikaGothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden (författare)

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

  • Artikel/kapitelEngelska2008

Förlag, utgivningsår, omfång ...

  • 2008-12-13
  • BioMed Central,2008
  • printrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:hj-39621
  • https://urn.kb.se/resolve?urn=urn:nbn:se:hj:diva-39621URI
  • https://doi.org/10.1186/1471-2350-9-108DOI
  • https://research.chalmers.se/publication/83439URI
  • https://gup.ub.gu.se/publication/83439URI
  • https://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-22951URI

Kompletterande språkuppgifter

  • Språk:engelska
  • Sammanfattning på:engelska

Ingår i deldatabas

Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • CC BY 2.0We are grateful to the Gothenburg Genomics/Core Facility and Alice and Knut Wallenberg Foundation for allowing us to use modern high throughput DNA sequencing equipment. We also want to acknowledge much appreciated advice on MLPA probe design that was given from Jan Schouten and colleagues at MRC-Holland. This study was funded by grants from the Health and Medical Care Committee of the Region Västra Götaland, the King Gustav V Jubilee Clinic Cancer Research Foundation, the Assar Gabrielsson Foundation, the Nilsson-Ehle foundation, and the Swedish state under the LUA-ALF agreement
  • 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.

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Abel, Frida,1974Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden(Swepub:gu)xabefr (författare)
  • Behboudi, Afrouz,1967Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden(Swepub:his)beha (författare)
  • Yhr, Maria,1968Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden(Swepub:gu)xyhrma (författare)
  • Mattsson, JanGothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för kirurgi,Institute of Clinical Sciences, Department of Surgery,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden,Department of Surgery, Sahlgrenska University hospital, Gothenburg, Sweden (författare)
  • Svensson, Jan H.Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden,Department of Surgery, Skaraborg hospital, Skövde, Sweden (författare)
  • Karlsson, Per,1963Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper,Institute of Clinical Sciences,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden,Department of Oncology, Sahlgrenska University hospital, Gothenburg, Sweden(Swepub:gu)xkperd (författare)
  • Nordling, Margareta,1962Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden(Swepub:gu)xnmarx (författare)
  • Göteborgs universitetInstitutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik (creator_code:org_t)

Sammanhörande titlar

  • Ingår i:BMC Medical Genetics: BioMed Central91471-2350

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