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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
Author(s) -
Speight Beverley,
Tischkowitz Marc
Publication year - 2017
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1007/s10897-017-0136-1
Subject(s) - genetic counseling , breast cancer , medicine , ovarian cancer , context (archaeology) , germline mutation , brca mutation , genetic testing , prophylactic mastectomy , oncology , gynecology , mastectomy , lynch syndrome , cancer , stage (stratigraphy) , mutation , colorectal cancer , genetics , biology , dna mismatch repair , paleontology , gene
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.