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Åke Borg

Åke Borg

Principal investigator

Åke Borg

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

Summary, in 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.


  • Breastcancer-genetics
  • Tumor microenvironment
  • Division of Clinical Genetics
  • Medical oncology
  • Lund Melanoma Study Group
  • Familial Breast Cancer

Publishing year







American Journal of Human Genetics





Document type

Journal article


Cell Press


  • 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



Research group

  • Lund Melanoma Study Group
  • Familial Breast Cancer


  • ISSN: 0002-9297