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Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Author

  • 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

Summary, in English

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.

Department/s

  • Breastcancer-genetics
  • BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation
  • EpiHealth: Epidemiology for Health

Publishing year

2016

Language

English

Pages

507-512

Publication/Series

Familial Cancer

Volume

15

Issue

4

Document type

Journal article

Publisher

Springer

Topic

  • Cancer and Oncology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1389-9600