A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: Case report and review of literature

M. B. Verbruggen, R. P. Zweemer, J. M J Piek, G. A. Van Unnik, P. J. Van Diest, J. J P Gille, F. H. Menko, J. C. Dorsman, R. H M Verheijen

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish (US)
Pages (from-to)1143-1147
Number of pages5
JournalInternational Journal of Gynecological Cancer
Volume17
Issue number5
DOIs
StatePublished - Sep 2007
Externally publishedYes

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BRCA2 Gene
Loss of Heterozygosity
Neoplasms
Mutation
Alleles
Germ-Line Mutation
Breast

Keywords

  • Borderline ovarian tumor
  • BRCA-related tumor spectrum
  • BRCA2
  • Loss of heterozygosity (LOH)

ASJC Scopus subject areas

  • Obstetrics and Gynecology
  • Oncology
  • Cancer Research

Cite this

Verbruggen, M. B., Zweemer, R. P., Piek, J. M. J., Van Unnik, G. A., Van Diest, P. J., Gille, J. J. P., ... Verheijen, R. H. M. (2007). A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: Case report and review of literature. International Journal of Gynecological Cancer, 17(5), 1143-1147. https://doi.org/10.1111/j.1525-1438.2007.00924.x

A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor : Case report and review of literature. / Verbruggen, M. B.; Zweemer, R. P.; Piek, J. M J; Van Unnik, G. A.; Van Diest, P. J.; Gille, J. J P; Menko, F. H.; Dorsman, J. C.; Verheijen, R. H M.

In: International Journal of Gynecological Cancer, Vol. 17, No. 5, 09.2007, p. 1143-1147.

Research output: Contribution to journalArticle

Verbruggen, MB, Zweemer, RP, Piek, JMJ, Van Unnik, GA, Van Diest, PJ, Gille, JJP, Menko, FH, Dorsman, JC & Verheijen, RHM 2007, 'A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor: Case report and review of literature', International Journal of Gynecological Cancer, vol. 17, no. 5, pp. 1143-1147. https://doi.org/10.1111/j.1525-1438.2007.00924.x
Verbruggen, M. B. ; Zweemer, R. P. ; Piek, J. M J ; Van Unnik, G. A. ; Van Diest, P. J. ; Gille, J. J P ; Menko, F. H. ; Dorsman, J. C. ; Verheijen, R. H M. / A case of loss of heterozygosity in the BRCA2 gene of a borderline ovarian tumor : Case report and review of literature. In: International Journal of Gynecological Cancer. 2007 ; Vol. 17, No. 5. pp. 1143-1147.
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