Ovarian Cancer Screening in Women from Hereditary Breast|[sol]|Ovarian Cancer Families

Women with a strong family history of ovarian and/or breast cancer may have an inherited predisposition to developing either or both of these cancers. The Familial Ovarian Cancer Clinic (FOCC), in a tertiary university setting, founded in 1992 has screened 1220 women to date; 269 women deemed high-risk based on their family history are the subject of this study. The objectives of the study were as follows: 1) to determine the effectiveness of routine screening using CA-125 and pelvic/trans-vaginal ultrasound to detect early cancer, 2) to establish the cost-effectiveness of the program, 3) to provide guidelines for similar screening programs. All women have been seen in the clinic at least once, and as many as 16 visits. Overall, 2.9% (31/1051) of the CA-125 results were abnormal, or greater than 35 U/ml; 17% (198/1162) ultrasounds were abnormal, with abnormalities ranging from benign appearing cystic changes to more ominous findings. Nineteen (7%) women with known BRCA1/2 mutations underwent surgery; in 11 women, the pre-operative US was abnormal. All pre-operative CA-125 blood tests were normal. Overall, 1 (0.4%) woman was diagnosed with ovarian cancer, a stage IA, grade 1 endometrioid adenocarcinoma. Screening tools are imperfect. CA-125 lacks sensitivity, while US's specificity is low (56%). Therefore, the routine use of these tests in women “at risk” (low or medium) is questionable. Certainly, in women properly assessed as being high risk, at present time, no better screening schema has been proven. Therefore, the routine use of CA-125 and US for women “at risk” should be reserved to women participating in an organized screening program. For those women at a lower risk based on family history, the merits of screening are questionable.