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Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome

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Abstract

Description of the various modalities of breast and ovarian cancer risk management, patient choices and their outcome in a single-center cohort of 158 unaffected women carrying a BRCA1 or BRCA2 germline mutation. Between 1998 and 2009, 158 unaffected women carrying a BRCA1 or BRCA2 gene mutation were prospectively followed. The following variables were studied: general and gynecological characteristics, data concerning any prophylactic procedures, and data concerning the outcome of these patients. Median age at inclusion was 37 years and median follow-up was 54 months. Among the 156 women who received systematic information about prophylactic mastectomy, 5.3 % decided to undergo surgery within 36 months after disclosure of genetic results. Prophylactic salpingo-oophorectomy was performed in 68 women. Among women in whom follow-up started between the ages of 40 and 50 years, prophylactic salpingo-oophorectomy was performed, within 24 months after start of follow-up, in 83.7 and 52 % of women with BRCA1 and BRCA2 mutations, respectively. Twenty four women developed breast cancer. Ovarian cancer was detected during prophylactic salpingo-oophorectomy in two women (2.9 %). In this cohort of French women carrying BRCA1/2 mutations, prophylactic mastectomy was a rarely used option. However, good compliance with prophylactic salpingo-oophorectomy was observed. This study confirms the high breast cancer risk in these women.

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Abbreviations

PM:

Prophylactic mastectomy

PSO:

Prophylactic salpingo-oophorectomy

MRI:

Magnetic resonance imaging

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Acknowledgments

We acknowledge the women for their acceptance to have their follow up registered. We acknowledge the members of the Institut Curie Breast and Ovarian Cancer Risk Study Group for their participation to the diagnosis of breast-ovarian cancer predisposition, to the management of at-risk women and for active discussion in the establishment of guidelines.

Ethical standards

This study is in agreement with the current laws and ethical standards in France. This study was approved by the Institutional Review Board. Informed consent was obtained from each woman participating in the cohort. All authors have read and approved the manuscript as the members of the Institut Curie Breast and Ovarian Cancer Risk Study Group.

Conflict of interest

The authors have no conflicts of interest to disclose.

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Correspondence to Pascale This.

Additional information

This study was conducted on behalf of the Institut Curie Breast and Ovarian Cancer Risk Study Group.

The members of the “Institut Curie Breast and Ovarian Cancer Risk Study Group” is given in “Appendix” section.

Appendix: The Institut Curie Breast and Ovarian Cancer Risk Study Group

Appendix: The Institut Curie Breast and Ovarian Cancer Risk Study Group

S Alran, N Andrieu, B Asselain, B Buecher, B Couturaud, I Dagousset, S Dolbeault, MC Falcou, F Fitoussi, V Fourchotte, A Fourquet, M Gauthier-Villars, Y Kirova, A de La Rochefordière, V Laurence, A de Pauw, F Reyal, C Rousset-Jablonski, RJ Salmon, A Savignoni, MH Stern, B Sigal-Zafrani, D Stoppa-Lyonnet, A Tardivon, F Thibault, P This.

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This, P., de la Rochefordière, A., Savignoni, A. et al. Breast and ovarian cancer risk management in a French cohort of 158 women carrying a BRCA1 or BRCA2 germline mutation: patient choices and outcome. Familial Cancer 11, 473–482 (2012). https://doi.org/10.1007/s10689-012-9539-1

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