Hereditary breast cancer syndromes and clinical implications

J Plast Reconstr Aesthet Surg. 2009 Feb;62(2):181-9. doi: 10.1016/j.bjps.2008.07.012. Epub 2008 Nov 21.


Breast cancer is the most common cancer in the UK, and a significant number of breast cancers are hereditary. Identification of BRCA1/2 genes and the high-risk patients for developing breast cancer would allow a better understanding of the natural history and pathogenesis of breast cancer. Genetically predisposed patients and their families are managed differently than sporadic cases. Management of these individuals is decided in a multidisciplinary setting, which includes medical oncologists, clinical geneticists, psychologists, breast surgeons, plastic and reconstructive surgeons, clinical nurses and family planning specialists. This article reviews and highlights the current knowledge of hereditary breast cancer syndromes, the clinical implications of carrying a genetic predisposition and how it influences the management of the patient and the effect it has on breast reconstructive surgery services.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control
  • Checkpoint Kinase 2
  • Female
  • Genes, BRCA1
  • Genes, BRCA2
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Mammaplasty / methods
  • Mastectomy / methods
  • Mutation
  • Neoplastic Syndromes, Hereditary / genetics*
  • Neoplastic Syndromes, Hereditary / prevention & control
  • Protein-Serine-Threonine Kinases / genetics
  • Radiotherapy, Adjuvant


  • Checkpoint Kinase 2
  • CHEK2 protein, human
  • Protein-Serine-Threonine Kinases