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Åke Borg

Åke Borg

Principal investigator

Åke Borg

The BRCA1 syndrome and other inherited breast or breast-ovarian cancers in a Norwegian prospective series

Author

  • P Möller
  • Åke Borg
  • K Heimdal
  • J Apold
  • Johan Vallon-Christersson
  • E Hovig
  • L Maehle

Summary, in English

Inherited breast cancer is a heterogenous group of diseases. We examined this heterogeneity in a prospective series of inherited breast and ovarian cancers, previously demonstrated to include 84% of inherited cancers. Ninety-two tumours (65 breast and 27 ovarian) in 82 patients from 70 kindreds were prospectively diagnosed. Fifteen of the breast cancers were in situ, 50 were infiltrating. 40 (49%) of the 82 women carried a BRCA1 mutation, whereas no mutation in BRCA2 was found. Approximately, two-thirds of the BRCA1 mutation carriers had one of the four most frequent Norwegian founder mutations. Ninety-five per cent of the epithelial ovarian cancers occurred in BRCA1 mutation carrying women versus 38% of infiltrating breast cancers and 7% of carcinoma in situ of the breast. The BRCA1 syndrome was phenotypically distinct with invasive, high grade, oestrogen receptor-negative breast cancers and epithelial ovarian cancers. Non-BRCA1/2 inherited breast cancers included carcinoma in situ and lobular carcinoma and were frequently bilateral. Non-BRCA1/2 inherited breast cancer is not associated with epithelial ovarian cancer and in breast cancers has distinct biological characteristics, indicating that the different subgroups of inherited breast cancer may need different healthcare services.

Department/s

  • Breastcancer-genetics

Publishing year

2001

Language

English

Pages

1027-1032

Publication/Series

European Journal of Cancer

Volume

37

Issue

8

Document type

Journal article

Publisher

Elsevier

Topic

  • Cancer and Oncology

Keywords

  • BRCA1
  • BRCA2
  • Inherited
  • Breast cancer
  • Ovarian cancer
  • Oestrogen receptor
  • Epidemiology

Status

Published

ISBN/ISSN/Other

  • ISSN: 1879-0852