When to Consider Risk-Reducing Mastectomy in BRCA1/BRCA2 Mutation Carriers with Advanced Stage Ovarian Cancer: a Case Study Illustrating the Genetic Counseling Challenges.
Beverley SpeightMarc TischkowitzPublished in: Journal of genetic counseling (2017)
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.
Keyphrases
- breast cancer risk
- case report
- minimally invasive
- genome wide
- end stage renal disease
- primary care
- copy number
- newly diagnosed
- systematic review
- smoking cessation
- chronic kidney disease
- type diabetes
- coronary artery bypass
- dna repair
- ejection fraction
- risk assessment
- dna damage
- coronary artery disease
- oxidative stress
- pregnant women
- hepatitis c virus
- gene expression
- dna methylation
- patient reported outcomes