ArticleFamilial cancer2010
Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations.
Article in Familial cancer, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Case Report: Clinical impact ofFrontiers in oncology · 2025Article
- Five Italian Families with Two Mutations inGenes · 2020Article
- Diagnostic mRNA splicing assay for variants inHereditary cancer in clinical practice · 2019Article
- Double Heterozygosity for BRCA1 Pathogenic Variant and BRCA2 Polymorphic Stop Codon K3326X: A Case Report in a Southern Italian Family.International journal of molecular sciences · 2018Article
- Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Human mutation · 2016Article
- Identification of a breast cancer family double heterozygote for RAD51C and BRCA2 gene mutations.Familial cancer · 2015Article
- Functional characterization of BRCA1 gene variants by mini-gene splicing assay.European journal of human genetics : EJHG · 2014Article
- The ophthalmic experience: unanticipated primary findings in the era of next generation sequencing.Journal of genetic counseling · 2014Article
- Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations.Familial cancer · 2011Article
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6 authors.
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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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