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JNCI Journal of the National Cancer Institute 2002 94(16):1185-1187; doi:10.1093/jnci/94.16.1185
© 2002 by Oxford University Press
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Journal of the National Cancer Institute, Vol. 94, No. 16, 1185-1187, August 21, 2002
© 2002 Oxford University Press

EDITORIAL

Genetic Risk in Context: Calculating the Penetrance of BRCA1 and BRCA2 Mutations

Wylie Burke, Melissa A. Austin

Affiliations of authors: W. Burke (Department of Medical History and Ethics), M. A. Austin (Institute for Public Health Genetics), University of Washington, Seattle.

Correspondence to: Wylie Burke, M.D., Ph.D., Department of Medical History and Ethics, Box 357120, University of Washington, 1959 NE Pacific, Rm. A204, Seattle, WA 98195 (e-mail: wburke@u.washington.edu).

The first 10% of the full text of this article appears below.

With advances in genetic research, many experts anticipate an era of "personalized medicine," in which knowledge about genetic risk will be used to guide preventive health care, drug choices, and disease management (1–3). This approach may hold particular promise for cancer, because information about a genetic susceptibility could provide valuable opportunities to tailor cancer screening and prevention strategies and to refine clinical and behavioral interventions to reduce cancer risk. However, this paradigm calls for genetic tests that provide accurate risk predictions, a goal that may be far from easy to achieve.

The BRCA1 and BRCA2 genes are an important case in point. Several studies have estimated the penetrance of BRCA1 mutations, that is, the likelihood that breast or ovarian . . . [Full Text of this Article]


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