Presymptomatic diagnosis of hereditary breast cancer

Findings by SBU Alert

This is a translation of version 1, published on February 2, 2000. The latest version of this report is not available in English.

The discovery that mutations in two specific genes increase the risk for breast cancer and ovarian cancer has opened new opportunities to prevent hereditary cancer. Special programs to identify, investigate, follow up, and treat individuals with hereditary breast cancer are being developed in Sweden.

There is good* evidence that certain genes are associated with the risk for cancer. There is moderate* evidence regarding the effects of preventive interventions in women at high risk for cancer. However, no studies address the effects of morbidity, mortality, and cost-effectiveness of entire programs.

There is little opportunity to assess programs for genetic screening in randomized clinical trials. However, it is essential to analyze the overall effects of mortality and the economic impact of various strategies and programs using retrospective data and model analyses.

*This assessment by SBU Alert uses a 4-point scale to grade the quality and evidence of the scientific documentation. The grades indicate: (1) good, (2) moderate, (3) poor, or (4) no scientific evidence on the subject.

This summary is based on a report prepared at SBU in collaboration with Assoc Prof Ulf Kristoffersson, MD PhD, Lund University Hospital. It has been reviewed by Prof Håkan Olsson, MD PhD, Lund University Hospital.

Alert is a joint effort by the Swedish Council on Technology Assessment in Health Care (SBU), the Medical Products Agency, the National Board of Health and Welfare, and the Federation of Swedish County Councils.

References

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