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Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain

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Abstract

Carriers of a mutation in BRCA1/2 genes confront a high lifetime risk of breast and ovarian cancer and fifty percent probability of passing the mutation to their offspring. Current options for risk management influence childbearing decisions. The indications for preimplantation genetic diagnosis (PGD) have now been expanded to include predisposition for single-gene, late-onset cancer but few cases have been reported to date despite the favorable opinion among professionals and carriers. A 28-year-old BRCA1 mutation carrier (5273G>A in exon 19) with a strong maternal history of breast cancer and 2 years of infertility decided to pursue PGD to have a healthy descendent after an accurate assessment of her reproductive options. The procedure was approved by the national regulation authority and a PGD cycle was initiated. Four out of 6 embryos harbored the mutation. The two unaffected embryos were implanted in the uterus. A singleton pregnancy was achieved and a male baby was delivered at term. Consented umbilical cord blood testing confirmed the accuracy of the technique. Individualized PGD for inherited breast predisposition is feasible in the context of a multidisciplinary team.

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Acknowledgments

We thank the couple for their permission to publish this case. We wish to express our gratitude to Conxi Lazaro, Lídia Feliubadaló and Adriana Lasa for the provision of the familial mutated DNA for marker selection and confirmation of the true negative result. We would like to thank to Josep Armengol and Daniel Mataro for their obstetric care, to Carmen Alonso for her support and helpful comments on this manuscript and finally, to Carolyne Newey for her contribution regarding the English edition. César Arjona Fernández is founded by the project PTQ-08-03-06590 (Programa Torres Quevedo del Ministerio de Ciencia e Innovación).

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Authors and Affiliations

  1. Medical Oncology Department, Sant Pau Hospital, Barcelona, Spain

    Teresa Ramón y Cajal

  2. Department of Gynecology, Sant Pau Hospital, Barcelona, Spain

    Ana Polo, Pere Viscasillas & Joaquin Calaf

  3. Puigvert Foundation, Barcelona, Spain

    Olga Martínez & Lluís Bassas

  4. Reprogenetics, Barcelona, Spain

    Carles Giménez & César Arjona

  5. Cancer Genetic Counseling Program, Catalan Institute of Oncology (ICO), Barcelona, Spain

    Gemma Llort

  6. Servicio Oncología Médica, Hospital Sant Pau, Sant Antoni Maria Claret 167, 08025, Barcelona, Spain

    Teresa Ramón y Cajal

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  1. Teresa Ramón y Cajal
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  2. Ana Polo
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  3. Olga Martínez
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  4. Carles Giménez
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  5. César Arjona
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  6. Gemma Llort
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  7. Lluís Bassas
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  9. Joaquin Calaf
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Correspondence to Teresa Ramón y Cajal.

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Ramón y Cajal, T., Polo, A., Martínez, O. et al. Preimplantation genetic diagnosis for inherited breast cancer: first clinical application and live birth in Spain. Familial Cancer 11, 175–179 (2012). https://doi.org/10.1007/s10689-011-9497-z

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  • DOI: https://doi.org/10.1007/s10689-011-9497-z

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