Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors

I.A.P. Derks - Smeets, C.E.M. de Die-Smulders*, S. Mackens, R. van Golde, A.D. Paulussen, J. Dreesen, H. Tournaye, P. Verdyck, V.C.G. Tjan-Heijnen, M. Meijer-Hoogeveen, J. de Greve, J. Geraedts, M. de Rycke, M. Bonduelle, W.M. Verpoest

*Corresponding author for this work

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Preimplantation genetic diagnosis (PGD) is a reproductive option for BRCA1/2 mutation carriers wishing to avoid transmission of the predisposition for hereditary breast and ovarian cancer (HBOC) to their offspring. Embryos obtained by in vitro fertilisation (IVF/ICSI) are tested for the presence of the mutation. Only BRCA-negative embryos are transferred into the uterus. The suitability and outcome of PGD for HBOC are evaluated in an observational cohort study on treatments carried out in two of Western-Europe's largest PGD centres from 2006 until 2012. Male carriers, asymptomatic female carriers and breast cancer survivors were eligible. If available, PGD on embryos cryopreserved before chemotherapy was possible. Generic PGD-PCR tests were developed based on haplotyping, if necessary combined with mutation detection. 70 Couples underwent PGD for BRCA1/2. 42/71 carriers (59.2 %) were female, six (14.3 %) of whom have had breast cancer prior to PGD. In total, 145 PGD cycles were performed. 720 embryos were tested, identifying 294 (40.8 %) as BRCA-negative. Of fresh IVF/PGD cycles, 23.9 % resulted in a clinical pregnancy. Three cycles involved PGD on embryos cryopreserved before chemotherapy; two of these women delivered a healthy child. Overall, 38 children were liveborn. Two BRCA1 carriers were diagnosed with breast cancer shortly after PGD treatment, despite negative screening prior to PGD. PGD for HBOC proved to be suitable, yielding good pregnancy rates for asymptomatic carriers as well as breast cancer survivors. Because of two cases of breast cancer shortly after treatment, maternal safety of IVF(PGD) in female carriers needs further evaluation.

Original languageEnglish
Pages (from-to)673-681
Number of pages9
JournalBreast Cancer Research and Treatment
Issue number3
Early online date19 Apr 2014
Publication statusPublished - Jun 2014


  • Preimplantation genetic diagnosis
  • Hereditary breast and ovarian cancer
  • BRCA1
  • BRCA2
  • Reproductive outcome
  • RISK

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