Javascript is not activated in your browser. This website needs javascript activated to work properly.
You are here

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer

  • Sara Hakansson
  • O Johannsson
  • Ulla Johansson
  • G Sellberg
  • N Loman
  • A M Gerdes
  • E Holmberg
  • N Dahl
  • N Pandis
  • U Kristoffersson
  • Håkan Olsson
  • Åke Borg
Publishing year: 1997-05
Language: English
Pages: 1068-1078
Publication/Series: American Journal of Human Genetics
Volume: 60
Issue: 5
Document type: Journal article
Publisher: Cell Press

Abstract english

Previous studies of high-risk breast cancer families have proposed that two major breast cancer-susceptibility genes, BRCA1 and BRCA2, may account for at least two-thirds of all hereditary breast cancer. We have screened index cases from 106 Scandinavian (mainly southern Swedish) breast cancer and breast-ovarian cancer families for germ-line mutations in all coding exons of the BRCA1 and BRCA2 genes, using the protein-truncation test, SSCP analysis, or direct sequencing. A total of 24 families exhibited 11 different BRCA1 mutations, whereas 11 different BRCA2 mutations were detected in 12 families, of which 3 contained cases of male breast cancer. One BRCA2 mutation, 4486delG, was found in two families of the present study and, in a separate study, also in breast tumors from three unrelated males with unknown family history, suggesting that at least one BRCA2 founder mutation exists in the Scandinavian population. We report 1 novel BRCA1 mutation, eight additional cases of 4 BRCA1 mutations described elsewhere, and 11 novel BRCA2 mutations (9 frameshift deletions and 2 nonsense mutations), of which all are predicted to cause premature truncation of the translated products. The relatively low frequency of BRCA1 and BRCA2 mutations in the present study could be explained by insufficient screening sensitivity to the location of mutations in uncharacterized regulatory regions, the analysis of phenocopies, or, most likely, within predisposed families, additional uncharacterized BRCA genes.


  • Medical Genetics
  • Cancer and Oncology
  • Adult
  • Aged
  • BRCA2 Protein
  • Breast Neoplasms
  • Breast Neoplasms, Male
  • Female
  • Founder Effect
  • Frameshift Mutation
  • Gene Frequency
  • Genes, BRCA1
  • Humans
  • Male
  • Middle Aged
  • Mutation
  • Neoplasm Proteins
  • Polymorphism, Single-Stranded Conformational
  • Scandinavian and Nordic Countries
  • Sequence Deletion
  • Sweden
  • Transcription Factors


  • Lund Melanoma Study Group
  • Familial Breast Cancer
  • ISSN: 0002-9297
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