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Familial Cancer
Published in: Familial Cancer 3/2010

Open Access 01-09-2010

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

Authors: Ane Y. Steffensen, Lars Jønson, Bent Ejlertsen, Anne-Marie Gerdes, Finn C. Nielsen, Thomas V. O. Hansen

Published in: Familial Cancer | Issue 3/2010

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Abstract

Mutations in the two breast cancer susceptibility genes BRCA1 and BRCA2 are associated with increased risk of breast and ovarian cancer. Patients with mutations in both genes are rarely reported and often involve Ashkenazi founder mutations. Here we report the first identification of a Danish breast and ovarian cancer family heterozygote for mutations in the BRCA1 and BRCA2 genes. The BRCA1 nucleotide 5215G > A/c.5096G > A mutation results in the missense mutation Arg1699Gln, while the BRCA2 nucleotide 859 + 4A > G/c.631 + 4A > G is novel. Exon trapping experiments and reverse transcriptase (RT)–PCR analysis revealed that the BRCA2 mutation results in skipping of exon 7, thereby introducing a frameshift and a premature stop codon. We therefore classify the mutation as disease causing. Since the BRCA1 Arg1699Gln mutation is also suggested to be disease-causing, we consider this family double heterozygote for BRCA1 and BRCA2 mutations.
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Metadata
Title
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations
Authors
Ane Y. Steffensen
Lars Jønson
Bent Ejlertsen
Anne-Marie Gerdes
Finn C. Nielsen
Thomas V. O. Hansen
Publication date
01-09-2010
Publisher
Springer Netherlands
Published in
Familial Cancer / Issue 3/2010
Print ISSN: 1389-9600
Electronic ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-010-9345-6

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