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

• 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)