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

Surveillance Options for Women With BRCA1 or BRCA2 Mutations

Surveillance recommendations for women with germline BRCA mutations are necessarily founded upon expert opinion. As yet, there has been no prospective study demonstrating an impact of surveillance on cancer-specific mortality in this population. Nonetheless, specialized screening programs have been developed by consensus in both the United States and Europe.[53,54] The program currently recommended by the National Cancer Center Network is presented in Table 4 . For management of female breast cancer risk, women are encouraged to learn and practice breast self-examination beginning at age 18 and to begin annual mammogram screening at age 25. At present, there is no clear preclinical or clinical evidence to support theoretical concerns that radiation exposure consequent to mammography may increase cancer risk. However, breast density may preclude satisfactory examination in the younger women, and the high-grade nature of BRCA-associated breast cancer may predispose to the development of disease in the intervals between mammographic examinations. In two relatively small prospective follow-up series of women with BRCA mutations, approximately half of incident breast cancers presented symptomatically in the intervals between screening.[55,56] Improvements in surveillance technologies are needed, and a number of centers have begun investigating the utility of breast ultrasound or magnetic resonance imaging (MRI). Although the exact role of these modalities has not been defined, early studies have suggested that breast MRI may be more sensitive in this population, with acceptable specificity.[57,58,59] There are no established guidelines for screening of men at risk for hereditary breast cancer. It is reasonable to suggest periodic self-examination and evaluation by a provider experienced in clinical breast examination. The utility of screening mammography in men is unknown, although it is technically possible in at least some individuals.

Transvaginal ultrasonography and CA125 measurement is recommended twice a year in women at risk for hereditary ovarian cancer. Screening can begin slightly later than breast cancer screening, as most hereditary ovarian cancers appear to be diagnosed after the age of 35. The effectiveness of this program in reducing ovarian cancer mortality in this population has not been established, although in one small experience, the approach was able to detect early-stage hereditary ovarian cancers with acceptable specificity.[56] In another, multi-institution experience, transvaginal sonography and CA125 measurement was less useful in women at risk for hereditary gynecologic malignancy.[60] CA125 measurement was insensitive in this series, and ultrasound, while able to detect primary ovarian and fallopian tube malignancy, failed to identify malignancies arising from the peritoneal surface, which constituted a significant fraction of the total number of gynecologic cancers.

Individuals at risk should undergo population screening for other malignancies, especially prostate and colon cancer. While it is reasonable to initiate this screening slightly earlier than in the general population, there is no clear evidence that there is a predilection for these cancers to occur at a younger age.


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