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A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: case report and review of literature
  1. M. B. Verbruggen*,
  2. R. P. Zweemer*,
  3. J. M.J. Piek*,
  4. G. A. Van Unnik*,
  5. P. J. Van Diest,
  6. J. J.P. Gille,
  7. F. H. Menko§,
  8. J. C. Dorsman* and
  9. R. H.M. Verheijen*
  1. * Department of Obstetrics and Gynaecology, VU University Medical Center, Amsterdam, The Netherlands;
  2. Department of Pathology, University Medical Center, Utrecht, The Netherlands; Departments of
  3. Human Genetics and
  4. § Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands
  1. Address correspondence and reprint requests to: René Henricus Maria Verheijen, MD, PhD, Department of Obstetrics and Gynaecology, Division of Gynaecologic Oncology, VU University Medical Center, Amsterdam, De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Email: R.Verheijen{at}


Germline BRCA1 and BRCA2 mutations highly increase the risk of breast and female adnexal cancer. The role of these genes in the tumorigenesis of other malignancies is still under debate. Borderline ovarian tumors (BOT) are occasionally found in families with a strong history of breast and/or female adnexal cancer with or without proven germline mutations. We investigated whether a BOT arising in a germline BRCA2 mutation carrier could be attributed to this mutation, in which case BOT should be added to the BRCA2 related tumor spectrum. Tumor DNA of a serous borderline ovarian tumor (sBOT) of a 55-year-old female carrier of a pathogenic BRCA2 mutation (6085G>T) was analyzed for loss of heterozygosity (LOH) of BRCA2. The sBOT cells, unexpectedly, revealed loss of the mutant allele of BRCA2, while ovarian stroma cells and peripheral blood lymphocytes contained both wild-type and mutant allele of BRCA2. The finding that no loss of the wild-type BRCA2 allele was found in the tumor tissue but loss of the mutant allele was seen suggests that sBOT are not part of the BRCA2 related tumor spectrum. In the literature BOT's in germline BRCA1 and BRCA2 mutation carriers are described incidentally, while in patients with a BOT a germline BRCA1 or BRCA2 mutation is rarely found. Therefore, we conclude that borderline ovarian tumors are neither part of the BRCA1- nor the BRCA2- related tumor spectrum.

  • borderline ovarian tumor
  • BRCA2
  • BRCA-related tumor spectrum
  • loss of heterozygosity (LOH)

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