Efficacy of early diagnosis and treatment in women with a family history of breast cancer

BACKGROUND: Surveillance programmes for women at increased genetic risk of breast cancer are being established worldwide but little is known of their efficacy in early detection of cancers and hence reduction in mortality. METHODS: Data were contributed from seven centres participating in the EU D emonstration Programme on Clinical Services for Familial Breast Cancer. All breast tumours (n = 161) detected prospectively, from the time of enrolmen t of women in a screening programme, were recorded. Analysis took account o f age at diagnosis, whether tumours were screen-detected or not, their path ological stage and outcome by Kaplan-Meier survival plots. RESULTS: Mean age at diagnosis was 48.6 years. Overall; 75% of tumours were detected in the course of planned examinations. For women under age 50 at diagnosis, this figure was 68%. Eighteen percent were mammographically nega tive, (23% in patients under age 50). At first ("prevalence") round and at follow-up screening, 16% and 22% of tumours respectively were carcinoma in situ (CIS) while 27% and 22% respectively had evidence of nodal or distant spread (CaN+). Comparison of screen-detected and other tumours showed that the latter were more frequently mammogram-negative and CaN+. Overall five-y ear survival was 89% and five-year event-free survival 86%. Five-year event -free survival was 100% for CIS, 88% for invasive cancer without nodal or d istant spread and 67% for CaN+. CONCLUSIONS: The majority of cancers arising in women at increased genetic risk of breast cancer can be detected by planned screening, even in those u nder age 50. Surveillance should include regular expert clinical examinatio n and teaching of "breast awareness" as well as mammography. Attention to t he logistics of screening programmes may improve still further the proporti on of tumours that are screen-detected. The trend towards earlier pathologi cal stage in tumours detected during follow-up rounds and the preliminary f indings on survival analysis suggest that this approach will prove to be of long-term benefit for breast cancer families.