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Åke Borg

Åke Borg

Principal investigator

Åke Borg

A Collaborative Survey of 80 Mutations in the BRCA1 Breast and Ovarian Cancer Susceptibility Gene : Implications for Presymptomatic Testing and Screening


  • Donna Shattuck Eidens
  • Melody Mcclure
  • Jacques Simard
  • Fernand Labrie
  • Steve Narod
  • Fergus Couch
  • Kent Hoskins
  • Barbara Weber
  • Lucio Castilla
  • Mike Erdos
  • Lawrence Brody
  • Lori Friedman
  • Elizabeth Ostermeyer
  • Csilla Szabo
  • Mary Claire King
  • Suresh Jhanwar
  • Kenneth Offit
  • Larry Norton
  • Teresa Gilewski
  • Mathew Lubin
  • Michael Osborne
  • Donald Black
  • Marie Boyd
  • Michael Steel
  • Sue Ingles
  • Robert Haile
  • Annika Lindblom
  • Hakan Olsson
  • Ake Borg
  • D. Timothy Bishop
  • Ellen Solomon
  • Paolo Radice
  • Giovanbattista Spatti
  • Simon Gayther
  • Bruce Ponder
  • William Warren
  • Mike Stratton
  • Qingyun Liu
  • Frank Fujimura
  • Cathryn Lewis
  • Mark H. Skolnick
  • David E. Goldgar

Summary, in English

To report the initial experience of an international group of investigators in identifying mutations in the BRCA1 breast and ovarian cancer susceptibility gene, to assess the spectrum of such mutations in samples from patients with different family histories of cancer, and to determine the frequency of recurrent mutations.
Nine laboratories in North America and the United Kingdom tested for BRCA1 mutations in DNA samples obtained from a total of 372 unrelated patients with breast or ovarian cancer largely chosen from high-risk families. Three of these laboratories also analyzed a total of 714 additional samples from breast or ovarian cancer cases, including 557 unselected for family history, for two specific mutations that had been found to recur in familial samples.
A total of 1086 women with either breast or ovarian cancer.
The detection of sequence variation in patients' DNA samples that is not found in sets of control samples.
BRCA1 mutations have now been identified in a total of 80 patient samples. Thirty-eight distinct mutations were found among 63 mutations identified through a complete screen of the BRCA1 gene. Three specific mutations appeared relatively common, occurring eight, seven, and five times, respectively. When specific tests for the two most common mutations were performed in larger sets of samples, they were found in 17 additional patients. Mutations predicted to result in a truncated protein accounted for 86% of the mutations detected by complete screening.
The high frequency of protein-terminating mutations and the observation of many recurrent mutations found in a diverse set of samples could lead to a relatively simple diagnostic test for BRCA1 mutations. More data must be accumulated to address specifically the sensitivity and specificity of such a diagnostic testing procedure and to better estimate the age-specific risk for breast and ovarian cancer associated with such mutations.


  • Tumor microenvironment
  • Lund Melanoma Study Group
  • Breastcancer-genetics
  • Familial Breast Cancer

Publishing year







JAMA: The Journal of the American Medical Association





Document type

Journal article


American Medical Association


  • Cancer and Oncology



Research group

  • Lund Melanoma Study Group
  • Familial Breast Cancer


  • ISSN: 0098-7484