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Breast Cancer Susceptibility Genes: Current Challenges and Future Promises

Barbara Weber, MD
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University of Pennsylvania School of Medicine, Philadelphia, PA 19104 Note: Dr. Weber is on the Clinical Advisory Board of and holds financial interest in the Myriad Genetics company. Requests for Reprints: Barbara Weber, MD, Biomedical Research Building, Room 1009, University of Pennsylvania School of Medicine, 422 Curie Boulevard, Philadelphia, PA 19104.


Copyright ©2004 by the American College of Physicians


Ann Intern Med. 1996;124(12):1088-1090. doi:10.7326/0003-4819-124-12-199606150-00012
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Recent advances in understanding the basis for breast cancer that clusters in families represent a rare combination of spectacular scientific achievements and immediate clinical applications. In the past 5 years, we have moved from skepticism that single genes could be responsible for inherited forms of common adult cancer to the rapid organization of dozens of clinics designed to provide DNA-based susceptibility testing for mutations in several such recently isolated genes. These discoveries provide both critical tools for understanding the molecular events that precede the development of clinical breast cancer and the information necessary to identify women at exceptional risk for developing breast and ovarian cancer. However, they also highlight the profound lack of knowledge that still exists in all facets of breast cancer genetics. The unknowns range from how these genes function at the molecular and cellular levels to the psychosocial, ethical, and legal effects of susceptibility testing. What is clear is that these genetic discoveries are already affecting many patients and practitioners, few of whom are prepared to incorporate genetic testing and counseling into clinical practice.

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