Management of familial breast cancer risk

Breast Cancer Res Treat. 2000 Jul;62(1):19-33. doi: 10.1023/a:1006470206271.


Women who are members of breast cancer families are at increased risk for breast cancer. The cloning of BRCA1 and BRCA2 has made it possible to identify mutation carriers within some of these families. Management of breast cancer risk in these families, which presents enormous challenges to patients and clinicians, is addressed. Management should begin with a full evaluation of the patient, including construction of a three-generation pedigree, ascertainment of non-genetic factors that may impact on risk, information on previous and current breast health, practice of and attitudes toward screening, and the psychosocial impact of family history on the individual. Patient priorities in risk management should be explicitly reviewed; these may include survival, cancer prevention, breast preservation, optimization of quality of life or minimization of disruption of day-to-day activities. Approaches to risk management involve screening (usually considered the mainstay), anti-estrogens, prophylactic surgery and/or lifestyle modifications. Specific gene therapy may become available in the future. Management decisions should be individualized to reflect risk levels and patient priorities and goals, within bounds that are medically and scientifically reasonable. An explicit examination of different time-frames (1, 5, 10 years) is recommended given the rapid evolution of knowledge in this area.

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Attitude to Health
  • Breast Neoplasms / diagnosis
  • Breast Neoplasms / genetics*
  • Breast Neoplasms / prevention & control
  • Chemoprevention
  • Decision Making
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Therapy
  • Humans
  • Mass Screening
  • Mastectomy
  • Middle Aged
  • Quality of Life
  • Risk Management*