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When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges

Published version
Peer-reviewed

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Authors

Speight, B 

Abstract

Germline mutations in BRCA1/BRCA2 significantly increase the risk of breast and ovarian cancer in women. This case report describes a BRCA1 germline mutation identified in a woman with stage IV epithelial ovarian cancer and the provision of genetic counseling about BRCA1-associated breast cancer risk in the three years following diagnosis. The report centers on the patient’s enquiry about risk-reducing breast surgery. We focus on the challenges for health professionals and patients in understanding and balancing the risks and benefits of major prophylactic surgery in the context of a potentially life-limiting cancer diagnosis. Breast cancer risk management in BRCA1/BRCA2 carriers with advanced ovarian cancer is an under-explored area of genetic counseling research. This article includes a case report, a review of the relevant literature and considers some implications for practice.

Description

Keywords

BRCA1/BRCA2, ovarian cancer, risk-reducing breast surgery, genetic counseling

Journal Title

Journal of Genetic Counseling

Conference Name

Journal ISSN

1059-7700
1573-3599

Volume Title

Publisher

Springer Nature
Sponsorship
European Research Council (310018)
Author Marc Tischkowitz is funded by the European Union Seventh Framework Program (2007–2013)/European Research Council (310018).