Effectiveness o f B reast C ancer S urveillance i n BRCA1/2 Gene M utation C arriers a nd W omen W ith H igh Familial R isk

Purpose: Women with a high breast cancer risk dueto a familial predisposition may choose between pre-ventive surgery and regular surveillance. The effective-ness of surveillance in high-risk women and especiallyBRCA1/2 mutation carriers is unknown. We presentfirst results from a single large family cancer clinic.Patients and Methods: Women with breast cancerriskover15%wereexaminedbyphysicalexaminationevery 6 months and mammography every year. Detec-tion rates and screening parameters were calculatedfor the total group and separately for different age andgenetic risk groups.Results: At least one examination was performed in1,198 women: 449 moderate and 621 high-riskwomen and 128 BRCA1/2mutation carriers. Within amedian follow-up of 3 years, 35 breast cancers weredetected (four ductal carcinoma-in-situ; 31 invasive tu-mors); the average detection rate was 9.7 per 1,000.Detection rates (95% confidence interval) for moderateand high-risk women and BRCA1/2carriers were 3.3(1.1 to 8.6), 8.4 (5.4 to 13.2), and 33 (17 to 63) per1,000person-years,respectively.Theratioofobservedcases versus breast cancers expected in an average-risk population of comparable age was 2.7, 7.0 and23.7 respectively. Overall, node negativity was 65%;34% of primary tumors were less than 10 mm; sensi-tivity was 74%. Results with respect to tumor stage andsensitivity were less favorable in BRCA1/2carriers andin women under the age of 40.Conclusion: Itispossibletoidentifyyoungwomenathigh risk for breast cancer. The number of cancersdetected was significantly greater than expected in anage-matched average-risk population and related tothe risk category. Overall, screening parameters werecomparable to population screening data, with lessfavorable results in the youngest age group (< 40) andBRCA1/2carriers.J Clin Oncol 19:924-930.