Elucidation of the basic mechanisms involved in the pathogenesis of breast cancer and numerous potential applications await further study of BRCA1, BRCA2, and other breast cancer susceptibility genes.
Patients carrying germ-line mutations in such genes might be targeted for interventions designed to reduce or eliminate risk. Questions of genetic heterogeneity can be addressed, such as whether various hereditary and nonhereditary forms of the disease involve the same or different loci. The mechanisms of the development of other cancers in the various clinical syndromes associated with familial breast cancer also may be clarified. Finally, the influence of exogenous exposures is being addressed.
The next several years should bring exciting developments in genetic epidemiology and molecular biology that may revolutionize present thinking about the role of hereditary factors in breast cancer and provide new tools for the diagnosis and treatment of breast cancer in women affected with both inherited and sporadic forms of breast cancer.
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Angela DeMichele and Barbara L. Weber
A. DeMichele: Departments of Medicine and Epidemiology, The University of Pennsylvania Cancer Center, Philadelphia, Pennsylvania
B. L. Weber: Departments of Medicine and Genetics, Breast Cancer Program, Population Science and Cancer Control, The University of Pennsylvania Cancer Center, Philadelphia, Pennsylvania