Low frequency of large genomic rearrangements of BRCA1 and BRCA2 in western Denmark.
Germline mutations in BRCA1 and BRCA2 predispose female carriers to breast and ovarian cancer. The majority of mutations identified are small deletions or insertions or are nonsense mutations. Large genomic rearrangements in BRCA1 are found with varying frequencies in different populations, but BRCA2 rearrangements have not been investigated thoroughly. The objective in this study was to determine the frequency of large genomic rearrangements in BRCA1 and BRCA2 in a large group of Danish families with increased risk of breast and ovarian cancer. A total of 617 families previously tested negative for mutations involving few bases were screened with multiplex ligation-dependent probe amplification (MLPA). Two deletions in BRCA1 were identified in three families; no large rearrangements were detected in BRCA2. The large deletions constitute 3.8% of the BRCA1 mutations identified, which is low compared to several other populations.
Thomassen
Mads
M
Department of Clinical Genetics and Clinical Biochemistry, Odense University Hospital, DK-5000 Odense C, Denmark. mads.thomassen@ouh.fyns-amt.dk
Gerdes
Anne-Marie
AM
Cruger
Dorthe
D
Jensen
Peter K A
PK
Kruse
Torben A
TA
D001943:Breast Neoplasms / Q000235:genetics; D003718:Denmark; D005091:Exons / Q000235:genetics; D005260:Female; D019398:Genes, BRCA1; D024522:Genes, BRCA2; D015894:Genome, Human / Q000235:genetics*; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics; D017422:Sequence Analysis, DNA; D017384:Sequence Deletion