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Feasibility of preimplantation genetic diagnosis for hereditary breast and ovarian cancer: report on a large cohort study

SESSION 51: PGD/PGS: LOOK TO THE PAST, PREPARE THE FUTURE O-191 Feasibility of  preimplantation genetic diagnosis for hereditary breast and ovarian cancer: report on a large cohort study

I.A.P. Derks-Smeets1, W. Verpoest2, S. Mackens2, P. Verdyck3, G. Verheyen2, A. Paulussen1, J. Dreesen1, R. Van Golde4, V.C.G. Tjan-Heijnen5, M. Meijer-Hoogeveen6, E.B. Gómez García1, J. De Greve7, M. Bonduelle3, C.E.M. De Die-Smulders1 and M. De Rycke3
Author Affiliations 1Maastricht University Medical Centre, Department of Clinical Genetics, Maastricht, The Netherlands  2Universitair Ziekenhuis Brussel, Centre for Reproductive Medicine, Brussels, Belgium 3Universitair Ziekenhuis Brussel, Centre for Medical Genetics, Brussels, Belgium  4Maastricht University Medical Centre, Department of Obstetrics and Gynecology, Maastricht, The Netherlands  5Maastricht University Medical Centre, Department of Internal Medicine, Division of Medical Oncology  6University Medical Centre Utrecht, Department of Reproductive Medicine and Gynecology, Utrecht, The Netherlands  7Universitair Ziekenhuis Brussel, Department of Medical Oncology, Brussels, Belgium  

Abstract

Introduction: Female carriers of a mutation in the BRCA1 or BRCA2 genes (BRCA1/2) have a lifetime risk of 60-80% to develop breast cancer and a risk of 30-60% (BRCA1) or 5-20% (BRCA2) for ovarian cancer. The late onset, reduced penetrance and availability of preventive and therapeutic options of this autosomal dominant disorder make prenatal diagnosis (PND) for BRCA1/2 controversial. Preimplantation genetic diagnosis (PGD) offers a reproductive alternative. Up to now only three reports have described a total of five pregnancies after PGD for BRCA1/2. The safety of hormonal stimulation needed for IVF/PGD treatment in female BRCA1/2 carriers has not been systematically studied so far.

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