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No germline mutatio...
No germline mutations in supposed tumour suppressor genes SAFB1 and SAFB2 in familial breast cancer with linkage to 19p.
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- Bergman, Annika (författare)
- Gothenburg 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
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- Abel, Frida, 1974 (författare)
- Gothenburg 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
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- Behboudi, Afrouz, 1967 (författare)
- Gothenburg 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
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- Yhr, Maria, 1968 (författare)
- Gothenburg 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
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- Mattsson, Jan (författare)
- Gothenburg 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
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- Svensson, Jan H. (författare)
- Department of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden,Department of Surgery, Skaraborg hospital, Skövde, Sweden
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- Karlsson, Per, 1963 (författare)
- Gothenburg 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
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- Nordling, Margareta, 1962 (författare)
- Gothenburg 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
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(creator_code:org_t)
- 2008-12-13
- 2008
- Engelska.
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Ingår i: BMC Medical Genetics. - : BioMed Central. - 1471-2350. ; 9
- Relaterad länk:
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https://doi.org/10.1...
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https://bmcmedgenet....
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http://dx.doi.org/10...
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https://his.diva-por... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://research.cha...
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https://gup.ub.gu.se...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- 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
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Cancer and Oncology (hsv//eng)
Nyckelord
- 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
- hereditär
- bröstcancer
- Breast Neoplasms
- genetics
- Chromosomes
- Human
- Pair 19
- Female
- Genes
- BRCA1
- BRCA2
- Germ-Line Mutation
- Humans
- Linkage (Genetics)
- Matrix Attachment Region Binding Proteins
- Nuclear Matrix-Associated Proteins
- Nucleic Acid Amplification Techniques
- Polymerase Chain Reaction
- Receptors
- Estrogen
- Sequence Analysis
- DNA
- Sweden
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas
- Av författaren/redakt...
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Bergman, Annika
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Abel, Frida, 197 ...
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Behboudi, Afrouz ...
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Yhr, Maria, 1968
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Mattsson, Jan
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Svensson, Jan H.
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visa fler...
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Karlsson, Per, 1 ...
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Nordling, Margar ...
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- Om ämnet
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Medicinska och f ...
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och Medicinsk geneti ...
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- MEDICIN OCH HÄLSOVETENSKAP
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MEDICIN OCH HÄLS ...
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och Klinisk medicin
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och Cancer och onkol ...
- Artiklar i publikationen
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BMC Medical Gene ...
- Av lärosätet
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Jönköping University
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Chalmers tekniska högskola
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Göteborgs universitet
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Högskolan i Skövde