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Rigshospitalet - a part of Copenhagen University Hospital
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Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

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  1. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

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  2. Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

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  3. BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

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  4. Germline TERT promoter mutations are rare in familial melanoma

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  1. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

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  2. A catalog of curated breast cancer genes

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  3. A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers

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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.
Original languageEnglish
JournalFamilial Cancer
Volume9
Issue number3
Pages (from-to)283-7
Number of pages5
ISSN1389-9600
DOIs
Publication statusPublished - 1 Sep 2010

ID: 31045892