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Hum. Reprod. Advance Access originally published online on April 11, 2007
Human Reproduction 2007 22(6):1573-1577; doi:10.1093/humrep/dem055
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Views of BRCA gene mutation carriers on preimplantation genetic diagnosis as a reproductive option for hereditary breast and ovarian cancer

U. Menon1,3, J. Harper2, A. Sharma1, L. Fraser1, M. Burnell1, K. ElMasry1, C. Rodeck2 and I. Jacobs1

1 Gynaecological Oncology, UCL Institute for Women's Health, 149 Tottenham Court Road, London W1T 7DN, UK 2 UCL Department of Obstetrics and Gynaecology, Centre for Preimplantation Genetic Diagnosis (PGD), 86-96 Chenies Mews, London WC1E 6HX, UK

3 Correspondence address. Tel: +02-07-380-6908; Fax: +02-07-380-6929; E-mail: u.menon{at}ucl.ac.uk

BACKGROUND: In May 2006, the UK Human Fertilization and Embryology Authority (HFEA) approved use of preimplantation genetic diagnosis (PGD) for lower penetrance, late onset cancer susceptibility syndromes such as hereditary breast and ovarian cancer (HBOC). This is the first report on views of BRCA gene mutation carriers on use of PGD for HBOC.

METHODS: Between December 2005 and February 2006, a postal survey of BRCA mutation carriers attending a Familial Cancer Clinic was undertaken.

RESULTS: Of 102 women sent questionnaires, 52 (51%) responded. Thirty-nine (75%) felt it was acceptable to offer PGD for HBOC. Fifteen (37.5%) of 40 who had completed their families would personally have considered PGD if it had been available. Only one of seven (14%) contemplating a future pregnancy would consider PGD. Eighteen (35%) wrote extensively about their concerns including increasing availability of effective treatment and good quality of life.

CONCLUSIONS: The majority of BRCA gene mutation carriers are supportive of offering PGD to others, thus endorsing the HFEA decision. However, most women would not consider it personally. Concerns raised highlight the need for regular HFEA reviews of the licensing criteria, as HBOC may cease to be a "serious life threatening illness" in the future.

Key words: BRCA/preimplantation diagnosis/reproductive options

Submitted on September 3, 2006; resubmitted on January 14, 2007; accepted on February 13, 2007.


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