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Rigshospitalet - a part of Copenhagen University Hospital
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BRCA1/BRCA2 founder mutations and cancer risks: impact in the western Danish population

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  • Henriette Roed Nielsen
  • Mef Nilbert
  • Janne Petersen
  • Steen Ladelund
  • Mads Thomassen
  • Inge Søkilde Pedersen
  • Thomas V O Hansen
  • Anne-Bine Skytte
  • Åke Borg
  • Christina Therkildsen
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Mutations in the BRCA1 and BRCA2 genes significantly contribute to hereditary breast cancer and ovarian cancer, but the phenotypic effect from different mutations is insufficiently recognized. We used a western Danish clinic-based cohort of 299 BRCA families to study the female cancer risk in mutation carriers and their untested first-degree relatives. Founder mutations were characterized and the risk of cancer was assessed in relation to the specific mutations. In BRCA1, the cumulative cancer risk at age 70 was 35 % for breast cancer and 29 % for ovarian cancer. In BRCA2, the cumulative risk was 44 % for breast cancer and 15 % for ovarian cancer. We identified 47 distinct BRCA1 mutations and 48 distinct mutations in BRCA2. Among these, 8 founder mutations [BRCA1 c.81-?_4986+?del, c.3319G>T (p.Glu1107*), c.3874delT and c.5213G>A (p.Gly1738Glu) and BRCA2 c.6373delA, c.7008-1G>A, c.7617+1G>A and c.8474delC] were found to account for 23 % of the BRCA1 mutations and for 32 % of the BRCA2 mutations. The BRCA1 mutation c.3319G>T was, compared to other BRCA1 mutations, associated with a higher risk for ovarian cancer. In conclusion, founder mutations in BRCA1 and BRCA2 contribute to up to one-third of the families in western Denmark and among these the BRCA1 c.3319G>T mutation is potentially linked to an increased risk of ovarian cancer.

Original languageEnglish
JournalFamilial Cancer
Volume15
Issue number4
Pages (from-to)407-12
ISSN1389-9600
DOIs
Publication statusPublished - Oct 2016

ID: 46179591