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01.06.2014 | Clinical trial | Ausgabe 3/2014

Breast Cancer Research and Treatment 3/2014

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

Zeitschrift:
Breast Cancer Research and Treatment > Ausgabe 3/2014
Autoren:
Inge A. P. Derks-Smeets, Christine E. M. de Die-Smulders, Shari Mackens, Ron van Golde, Aimee D. Paulussen, Jos Dreesen, Herman Tournaye, Pieter Verdyck, Vivianne C. G. Tjan-Heijnen, Madelon Meijer-Hoogeveen, Jacques De Greve, Joep Geraedts, Martine De Rycke, Maryse Bonduelle, Willem M. Verpoest
Wichtige Hinweise
This manuscript contains original data which were previously presented in part at the annual meeting of the European Society of Human Reproduction and Embryology in Istanbul, on the 2nd of July 2012. Data were presented in an oral presentation, as well as by press release.

Abstract

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.

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