Future Directions in Breast Cancer Genetics

Key points
- 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.
- DeMichele: Departments of Medicine and Epidemiology, The University of Pennsylvania Cancer Center, Philadelphia, Pennsylvania B.
- 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.
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.
REFERENCES
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- Wasink W. Cancer et heredite. Genetika 1935;17:103.
- Penrose L, MacKenzie HJ, Karn MNA. Genetical study of human mammary cancer. Ann Eugenics 1948;14:234.
- Anderson V, Goodman K, Reed S. Variables related to human breast cancer. Minneapolis, MN: University of Minnesota Press, 1950.
- Adami HO, Hansen J, Jung B, Rimsten A. Characteristics of familial breast cancer in Sweden-absence of relation to age and unilateral versus bilateral disease. Cancer 1981;48:1688.
- Lubin JH, Burns PE, Blot WJ, et al. Risk factors for breast cancer in women in northern Alberta, Canada, as related to age at diagnosis. J Natl Cancer Inst 1982;68:211.
- Bain C, Speizer FE, Rosner B, Belanger C, Hennekens CH. Family history of breast cancer as a risk indicator for the disease. Am J Epidemiol 1980;111:301.
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Written and revised by
Andrey Nailor, M.D.
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