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

  • P Möller
  • Åke Borg
  • K Heimdal
  • J Apold
  • Johan Vallon-Christersson
  • E Hovig
  • L Maehle
Publishing year: 2001
Language: English
Pages: 1027-1032
Publication/Series: European Journal of Cancer
Volume: 37
Issue: 8
Document type: Journal article
Publisher: Elsevier

Abstract 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.


  • Cancer and Oncology
  • BRCA1
  • BRCA2
  • Inherited
  • Breast cancer
  • Ovarian cancer
  • Oestrogen receptor
  • Epidemiology


  • ISSN: 1879-0852
Åke Borg
Åke Borg
E-mail: ake [dot] borg [at] med [dot] lu [dot] se

Principal investigator

Oncology and Pathology, MV

+46 46 275 25 52

MV 404 C21B2


Project manager

Familial Breast Cancer



Oncology and Pathology, MV

MV 404 C21C2