Surveillance Options for Individuals with BRCA1 or BRCA2 Mutations
Surveillance options for individuals with germline BRCA mutations are necessarily built on expert opinion. Unfortunately, there has been no formal demonstration that any approach will impact cancer-specific mortality in this population. Nonetheless, the ability to identify an at-risk population presents an opportunity to apply proactive, potentially life-saving programs for primary and secondary cancer prevention.
Such programs have been proposed by the ELSI consortium in the United States and by the French National Ad Hoc Committee in Europe. The surveillance program currently recommended at Memorial Sloan-Kettering is outlined in Table 11.4. For management of female breast cancer risk, women should be educated in the practice of monthly breast self-examination between the ages of 18 and 20.
Clinical breast examination should be performed three to four times a year, beginning at age 25. Annual mammography should also be performed beginning at age 25, although breast density may preclude satisfactory examination in the youngest women. The utility of other breast screening modalities (e.g., ultrasound, MRI) is unclear, and these procedures should currently be considered investigational.
There are no published recommendations for screening of males at inherited risk for breast cancer. It is rational, but unproven, to suggest self-examination and periodic clinical examination by an experienced provider. The utility of screening mammography in such men is undefined.
For management of ovarian cancer risk, biannual transvaginal pelvic ultrasound should be performed beginning at age 35. Biannual measurement of serum CA-125 is also suggested. Ovarian screening can be deferred until slightly later than breast screening as few hereditary ovarian cancers occur before the age of 35.
It is reasonable to consider screening for some of the other tumor types that have been reported to be part of the spectrum of malignancies associated with BRCA mutations. In particular, screening for colon and prostate cancers should be considered, beginning at age 40.
Mark E. Robson
Breast conservation therapy for invasive breast cancer in Ashkenazi women with BRCA gene founder mutations. J Natl Cancer Inst 2003