Clinical Considerations in the Management of Individuals at Risk for Hereditary Breast and Ovarian Cancer

Mark E. Robson, MD


Cancer Control. 2002;9(6) 

In This Article

Conclusions and the Role of Genetic Testing

The currently available studies demonstrate that women with BRCA-associated breast or ovarian cancer may experience different outcomes than women without germline mutations. Neither the magnitude nor the certainty of these differences is sufficient to justify modification of treatment of the primary malignancy in women with suspected hereditary disease. However, recognition of a potential hereditary predisposition allows the patient and her physician to develop a specialized program of surveillance to manage her subsequent cancer risk and that of her female relatives. She and her relatives may also wish to consider surgical or nonsurgical risk-reduction strategies. Men in the kindred may also be made aware of the increased risk of prostate, breast, and possibly colon cancer, so they may also take appropriate action.

The choice of whether to undergo genetic testing is a difficult one and should be made only after extensive consultation with a professional who is well versed in the counseling and management of families at hereditary risk. Such professionals can assess whether a particular family history is likely to reflect a hereditary predisposition, determine whether such a predisposition (if present) is likely to result from a BRCA mutation or from an alteration in another gene, and provide an empiric estimate of the likelihood that a mutation will be detected, if genetic testing is performed. Furthermore, these providers can address the unique psychosocial concerns of individuals seeking cancer risk assessment and genetic testing. Health insurance discrimination as a result of undergoing genetic testing has not arisen in any systematic way, but the psychological consequences of testing and the potential impact on family dynamics are important considerations that must be individually addressed. Finally, these professionals should also be involved in the interpretation and transmission of genetic test results. In addition to providing necessary psychological support, the integration of test results into a cancer risk assessment may be a complex endeavor, particularly if the results are "negative" in the setting of a strong family history or if the test identifies a genetic variant of uncertain significance.

The management of individuals at hereditary risk for breast and ovarian cancer is being rapidly and continuously refined. We are at the threshold of a new area of genetically targeted risk management, and considerable work remains to maximize the benefits of this technology for families at risk.

The print version of this article was originally certified for CME credit. For accreditation details, contact: H. Lee Moffitt Cancer Center & Research Institute, 12902 Magnolia Drive, Tampa, FL 33612. Telephone: (813) 632-1349. Fax: (813) 903-4950. Email: URL:


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