A case of woman from the breast/ovarian cancer family, with mutation in BRCA1 gene and elevated CA-125 serum level.

K Kaczanowska, JR Kowalczyk, T Byrski, J Lubinski

Department of Pediatric Hematology and Oncology, Medical Acedemy Lublin, Poland, Hereditary Cancer Center, Department of Genetics and Pathology, Pomeranian Academy, Szczecin, Poland

Breast cancer is the most common malignancy among women, and the strongest epidemiological risk factor for the disease is positive family history. Mutations in BRCA1 confer a high lifetime risk for both breast and ovarian cancer. Mutation carriers of BRCA1 and BRCA2 have a lifetime risk of 70-80% to develop breast and 40-50% to develop ovarian cancer. Here we report a case of patient whose family was affected by three breast and one ovarian cancer. Because strong aggregation breast and ovarian cancer, the woman performed genetic test. It showed mutation in BRCA1 gene, exon 20-5382insC. The next two mutations were proven in her sister daughters. In all performed clinical examinations (mammography, ultrasonographic examination of the breasts, transvaginal ultrasonography) there were no pathology. But the serum level CA-125 was highly increased, accordingly: 108 and 125 IU/L (normal: 30 UI/L) She underwent prophylactic oophrectomy, and at the time of surgery tumor was suspected. Histopathology gave the final solution: poorly differentiated adenocarcinoma, only in one site of the left ovary. As a consequence, the woman started few courses of chemotherapy. We want to conclude that we should perform BRCA1 and BRCA2 tests in families with strong aggregation of breast and ovarian cancer. We should hav a high suspicion of cancer when serum level of Ca-125 is highly increased. We want to underline the strategy of prevention.

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Paper presented at the International Symposium on Predictive Oncology and Intervention Strategies; Paris, France; February 9 - 12, 2002; in the section on Familial and Hereditary Cancer.