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

J Genet Couns. 2017 Dec;26(6):1173-1178. doi: 10.1007/s10897-017-0136-1. Epub 2017 Aug 5.

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.

Keywords: BRCA1/BRCA2; Genetic counseling; Ovarian cancer; Risk-reducing breast surgery.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Breast Neoplasms / genetics
  • Breast Neoplasms / prevention & control*
  • Breast Neoplasms / surgery
  • Carcinoma, Ovarian Epithelial
  • Female
  • Genes, BRCA1*
  • Genes, BRCA2*
  • Genetic Counseling*
  • Genetic Predisposition to Disease
  • Heterozygote
  • Humans
  • Mastectomy
  • Middle Aged
  • Mutation
  • Neoplasms, Glandular and Epithelial / genetics*
  • Ovarian Neoplasms / genetics*
  • Risk Factors