Individualized preventive and therapeutic management of hereditary breast ovarian cancer syndrome

Nat Clin Pract Oncol. 2007 Oct;4(10):578-90. doi: 10.1038/ncponc0930.

Abstract

Life-saving, risk-reducing medical interventions are required for women with a BRCA1/2 mutation. Interventions comprise a four-stage approach that involves risk assessment, genetic counseling, gene-mutation analysis and medical intervention strategies. Genetic counseling should be offered at specialized familial breast-cancer clinics and gene-mutation analysis should be recommended on the basis of personal and family-history-based risk criteria. Prophylactic bilateral salpingo-oophorectomy appears to offer the optimal benefit-risk ratio compared with prophylactic bilateral mastectomy, chemoprevention, or intensified surveillance. Tamoxifen is an alternative approach only for BRCA2 mutation carriers. The comprehensive, clinical decision-making Ioannina algorithm provided here can facilitate the complex preventive strategic approach. Newly diagnosed BRCA1/2 carriers might benefit from extensive surgery and a specific pharmacological treatment, but data to support this strategy are limited. Microarray gene-expression studies show that breast tumors from BRCA1 carriers are predominantly of basal subtype (i.e. triple negative) and BRCA2 carriers are of luminal subtype (i.e. estrogen-receptor-positive). Although optimum management of women with familial susceptibility to breast and ovarian cancer has not yet been prospectively validated, data indicate substantial benefits when an individualized evidence-based prevention strategy is provided by an experienced team.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control
  • Breast Neoplasms / therapy
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Counseling
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Humans
  • Mastectomy
  • Neoplastic Syndromes, Hereditary / prevention & control*
  • Neoplastic Syndromes, Hereditary / therapy
  • Ovarian Neoplasms / genetics*
  • Ovarian Neoplasms / prevention & control
  • Ovarian Neoplasms / therapy
  • Ovariectomy
  • Tamoxifen / therapeutic use

Substances

  • Tamoxifen