Intensivierte Vorsorge bei familiärer Disposition für Brustkrebs – Eigene Ergebnisse und derzeitiger Stand

PURPOSE: The study was performed to evaluate an intensified breast cancer screening program for women at risk of familial breast cancer. MATERIAL UND METHODS: 157 women were included in the study. Criteria for inclusion were: proven mutation of the BRCA 1-gene (n = 33), BRCA 2-gene (n = 14), heterozygous risk of ≥ 20 % or lifetime risk for developing breast cancer of ≥ 30 % (n = 110). Results were evaluated separately for healthy women and women with a history of breast or ovarian cancer. The study protocol consisted of 6-monthly clinical examinations as well as ultrasound and yearly mammography and MR-mammography. RESULTS: 12 women were diagnosed with breast cancer during the observation period (1. 11. 1999-31. 10. 2007); 75 % of the carcinomas were pT1-lesions, 89 % were pN0-lesions. The sensitivity of clinical examination was 25 % (mammography 27 %, ultrasound 58 %, MR-mammography 100 %). The positive predictive value was 75, 38, 50 and 60 % and specificity was 99,8, 99,6, 99,0, 97,6 %, respectively. These data are in accordance with the results of other national and international studies. The detection rate of carcinoma and positive predictive value were highest for carriers of BRCA 1-gene mutations. CONCLUSION: Based on the published data, implementing intensified screening programs for women at risk of familial breast cancer leads to the detection of carcinoma at an early stage. MR-mammography was shown to be the most sensitive method with acceptable positive predictive value. Further studies need to be performed to determine the perfect interval between examinations.