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Journal Articles (Data Paper) Familial Cancer Year : 2022

Preimplantation genetic testing in patients with genetic susceptibility to cancer

Marie-Charlotte Villy
  • Function : Author
Nelly Frydman
  • Function : Author
Céline Moutou
  • Function : Author
Gaëlle Thierry
  • Function : Author
Jade Raad
  • Function : Author
Chrystelle Colas
  • Function : Author
Julie Steffann
  • Function : Author
Julie Metras
  • Function : Author
Nathalie Chabbert-Buffet
  • Function : Author
Yann Parc
  • Function : Author
Patrick Benusiglio


Introduction: Data on preimplantation genetic testing (PGT-M) in patients with genetic susceptibility to cancer are scarce in the literature, while there is, in our experience, a growing familiarity with assisted reproduction techniques (ART) among pathogenic variant heterozygotes. We performed a retrospective multicenter study of PGT-M outcomes among French patients with genetic susceptibility to cancer. Our objectives were to collect data on this complex issue, and to help cancer geneticists counsel their patients of reproductive age. We also wanted to increase awareness regarding PGT-M among cancer genetics professionals. Material and methods: Patients from three university hospital cancer genetics clinics who had requested PGT-M between 2000 and 2019 were included retrospectively. Data were extracted from medical records. Patients were then contacted directly to collect missing and up-to-date information. Results: Out of 41 eligible patients, 28 agreed explicitly to participate when contacted and were therefore included. They carried PV in VHL (n = 9), APC (n = 8), CDH1 (n = 5), STK11 (n = 2), AXIN2, BRCA1, MEN1, and FH (n = 1). Seven patients were denied PGT-M based on multidisciplinary team meetings or subsequently by the ART hospital teams, two changed their minds, and two were yet to start the process. PGT-M was successful in seven patients (25%), with a mean age at PGT-M request of 27. Most had von Hippel-Lindau. PGT-M failed in the remaining 10, with a mean age at PGT-M request of 32. The main reason for failure was non-implantation of the embryo. Of these, four patients were pursuing PGT-M at the time of last contact. Conclusion: PGT-M outcomes in patients with cancer susceptibility syndromes were satisfactory. These patients should be informed about PGT-M more systematically, which would imply greater awareness among cancer genetics professionals regarding ART. Our series was not representative of cancer susceptibility syndromes in general; the predominance of cases with syndromes characterized by early-onset, highly penetrant disease is explained by the restrictive French guidelines.
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Dates and versions

hal-04115766 , version 1 (02-06-2023)



Marie-Charlotte Villy, Nelly Frydman, Céline Moutou, Gaëlle Thierry, Jade Raad, et al.. Preimplantation genetic testing in patients with genetic susceptibility to cancer. Familial Cancer, 2022, 22 (1), pp.119-125. ⟨10.1007/s10689-022-00293-1⟩. ⟨hal-04115766⟩
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