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Risk assessment and management of high risk familial breast cancer
  1. D G R Evans,
  2. F Lalloo
  1. University Department of Medical Genetics and Regional Genetics Service, St Mary’s Hospital, Manchester M13 0JH, UK
  1. Correspondence to:
 Professor D G R Evans, University Department of Medical Genetics and Regional Genetic Service, St Mary’s Hospital, Hathersage Road, Manchester, M13 0JH, UK;


The demand for genetic services by women with a family history of breast cancer has increased exponentially over the last few years. It is important that risks to women are accurately assessed and that processes are in place for appropriate counselling and management. The classification of risk into average, moderate, and high, depending upon the assessed lifetime risk of breast cancer, allows for the management of moderate risk women within cancer units and high risk women within the regional genetic centres. Management of high risk women includes discussion of options including screening, chemoprevention, and preventive surgery. The majority of these options are still unproven in the long term and continuing research is needed for their evaluation. Mutation screening and predictive testing are now a reality for a minority of families, allowing for a more informed basis for decisions regarding management options.

  • breast cancer
  • familial
  • high risk

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