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

Abstract and Introduction

Background: Hereditary predisposition to breast and ovarian cancer, most commonly due to germline mutations in BRCA1 and BRCA2, has been recognized for many years. The optimal clinical management of individuals with such a predisposition is not yet completely defined.
Methods: The current literature regarding the clinical management of individuals at risk for hereditary breast and ovarian cancer was reviewed.
Results: Women with germline BRCA1 or BRCA2 mutations are at substantially increased risk for breast and ovarian cancer, although the risks may not be as high as originally reported. Current surveillance options are restricted in their effectiveness by both host and tumor factors as well as limitations of the techniques. Surgical prevention options, while effective, may be complicated by physical or psychological morbidity. Nonsurgical prevention options are under development.
Conclusions: The ability to define women as being at hereditary risk for breast and ovarian cancer facilitates the use of specialized surveillance and prevention strategies. Genetic testing, which plays a role in defining risk, requires careful pre-and post-test counseling to discuss the limitations of testing itself and available management strategies.

The American Cancer Society estimates that over 200,000 women will be diagnosed with breast cancer in the United States in 2002, and nearly 40,000 will die of the disease.[1] One of the strongest risk factors for the development of breast cancer is the presence of a family history of the disease, although only a minority of women with breast cancer report such a history. Aggregate analyses suggest that a woman with a family history of breast cancer has between 1.5 and 2.5 times the risk of a woman without such a history.[2] Women with multiple affected relatives, or relatives who are diagnosed at earlier ages, appear to be at higher risk.

The presence of two or more cases of breast cancer within a family is sufficient to diagnose "familial" breast cancer. Such familial clustering may result from a shared genetic predisposition, but it may also be a consequence of shared environmental exposures or sociocultural risk factors (such as later age at first childbirth) or even from the operation of chance. The presence of an apparent autosomal dominant pattern of breast cancer, however, suggests that a single predisposing allele is being transmitted through a family. In such families, which can truly be said to manifest "hereditary" breast cancer, the disease occurs in women of each generation, and approximately 50% of the female offspring of an affected woman are themselves affected. The predisposition may be transmitted by men, even if the male parent is not himself affected. Hereditary breast cancer generally occurs at a younger age than sporadic disease, and it is frequently diagnosed in both breasts, either synchronously or metachronously. Other types of cancer, particularly ovarian cancer, are often observed within hereditary breast cancer families. Although male breast cancer is not prominent in most pedigrees, an increased risk for this rare disorder is observed in certain kindreds.


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