Evidence map›Paper›PMID 19077293›Full record

ArticleBMC medical genetics2008

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

Annika Bergman, Frida Abel, Afrouz Behboudi, Maria Yhr, Jan Mattsson, Jan H Svensson, Per Karlsson, Margareta Nordling

Abstract read
In one paragraph

Article in BMC medical genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

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0cells of the map it votes in
6citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Annika BergmanDepartment of Medical and Clinical genetics, Sahlgrenska Academy, Gothenburg, Sweden. annika.bergman@gu.se
Frida Abel
Afrouz Behboudi
Maria Yhr
Jan Mattsson
Jan H Svensson
Per Karlsson
Margareta Nordling

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe 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.

resultsMutation 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.

conclusionSAFB1 and SAFB2 are not likely to be causative of the hereditary breast cancer syndrome in west Swedish breast cancer families.

Indexed as

Chromosomes, Human, Pair 19Germ-Line MutationBreast NeoplasmsFemaleGenes, BRCA1Genes, BRCA2Genetic LinkageHumansMatrix Attachment Region Binding ProteinsNuclear Matrix-Associated ProteinsNucleic Acid Amplification TechniquesPolymerase Chain ReactionReceptors, EstrogenSequence Analysis, DNASwedenMatrix Attachment Region Binding ProteinsNuclear Matrix-Associated ProteinsReceptors, EstrogenSAFB2 protein, humanSAFB protein, human

Identifiers

PMID19077293
PMCPMC2635354

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.