Hereditary Women's Cancer: Management and Risk-Reducing Surgery

Medicina (Kaunas). 2023 Feb 6;59(2):300. doi: 10.3390/medicina59020300.

Abstract

Hereditary women's syndromes due to inherited mutations result in an elevated risk of developing gynecological cancers over the lifetime of affected carriers. The BRCA 1 and 2 mutations, Lynch syndrome (LS), and mutations in rare hereditary syndromes increase this risk and require more effective management of these patients based on surveillance and prophylactic surgery. Patients need counseling regarding risk-reducing surgery (RRS) and the time required to perform it, considering the adverse effects of premenopausal surgery and the hormonal effect on quality of life, bone density, sexual activity, and cardiological and vascular diseases. Risk-reducing salpingo-oophorectomy (RRSO) is the gold standard for BRCA-mutated patients. An open question is that of endometrial cancer (EC) risk in patients with BRCA1/2 mutation to justify prophylactic hysterectomy during RRSO surgical procedures. RRS provides a 90-95% risk reduction for ovarian and breast cancer in women who are mutation carriers, but the role of prophylactic hysterectomy is underinvestigated in this setting of patients. In this review, we evaluate the management of the most common hereditary syndromes and the benefits of risk-reducing surgery, particularly exploring the role of prophylactic hysterectomy.

Keywords: BRCA syndrome; abdominal hysterectomy; bilateral salpingo-oophorectomy; hereditary cancers; risk-reducing surgery.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms* / genetics
  • Endometrial Neoplasms*
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hysterectomy / methods
  • Mutation
  • Ovarian Neoplasms* / epidemiology
  • Quality of Life
  • Salpingo-oophorectomy / methods
  • Syndrome

Grants and funding

This research received no external funding.