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Keywords:

  • hereditary breast cancer;
  • psychological morbidity;
  • risk management;
  • screening;
  • high risk;
  • genetic counseling

Abstract: Women are more aware of hereditary breast cancer and increasingly seek mammography, information regarding their risk, and advice on its management. Little is known of the long-term outcome of risk status on psychological health, lifestyle, and health care behavior, or the success of breast cancer detection, prevention, or treatment in young high-risk women.

Genetic risk counseling is routinely provided in Family History Clinics although there may be a greater demand for mammography and reassurance that cancer is not present. Women often overestimate their risk and likelihood of dying from breast cancer, and may overestimate the effectiveness of screening. Risk counseling significantly improves the accuracy of women's risk estimates, enabling clinicians to address misconceptions.

Anxiety associated with overestimation of risk can lead to reduced compliance with screening and breast examination and, perhaps, inappropriate decisions about prophylactic mastectomy. Women who underestimate their risk are not made persistently anxious after risk counseling, but may need a more sensitive approach. There seems little justification for routine psychological counseling, but women with intrusive thoughts or persistent cancer worries may need help.

Management of women at increased risk includes consideration of genetic testing and preventive strategies. Genetic testing may have adverse psychosocial consequences and protocols are needed to guide and evaluate the process and outcome of genetic counseling in this context. Some women seek prophylactic mastectomy; in the absence of data to confirm the extent of risk reduction, these women should be carefully counseled, assessed, and their outcomes evaluated. The psychosocial effects of chemoprevention trials are currently being researched.

A major goal in health care is to provide equal access of high-risk women to clinical and psychological services and to meet the needs of those with poor adjustment to their risk and its implications.