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Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility


Table 4. Intensive Cancer Screening Studies of Women with Familial Breast Cancer Risk *

Study, Year (Reference) Total Women,
n
Inclusion Criteria Mean Age at Entry (Range),
y
Screening Methods Mean Followup Sensitivity,
%
Warner et al., 2004124 236 BRCA mutation carrier 46.6 (26.4-64.8) Annual mammography + MRI + ultrasonography + CBE every 6 mo 100% round 1,
58% round 2,
36% round 3
95 (all methods combined)
Komenaka et al., 2004125 13 BRCA mutation carrier 46 (32-59) Annual mammography NA NA
Scheuer et al., 2002126 165 BRCA mutation carrier 47.7 (24.1-79.0) Annual mammography with or without MRI** + CBE every 3-6 mo 24.1 mo (range, 1.6-66.0 mo) NA
Brekelmans et al., 2001115 1198 Positive family history; RR > 2; includes 128 BRCA mutation carriers 38 (21-70) Annual mammography with or without MRI** + CBE every 6 mo 36 mo 74
Chart and Franssen, 1997116 1044 Positive family history or combination of other risk factors 39.5/42.7 Annual mammography + CBE every 6-12 mo 21.9 mo 91
Gui et al., 2001117 1078 Positive family history; lifetime risk > 17% 45 (26-66) Annual mammography + CBE NA NA
Kollias et al., 1998118 1371 Positive family history; lifetime risk >11% 41 (18-49) Biennial mammography + annual CBE 22 mo 66
Lai et al., 1998119 2629 Relative of case-patient NA (>35) Annual mammography + CBE NA NA
Lalloo et al., 1998120 1259 Positive family history; lifetime risk >17% 39.1 (28-49) Annual mammography 30 mo 87
Møller et al., 1996121 1194 Positive family history 42.9 Annual mammography 1.8 y NA
Saetersdal et al., 1996122 537 Positive family history 42.5 (20-76) Annual mammography + CBE NA NA
Tilanus-Linthorst et al., 2000123 678 Lifetime risk >15% 42.9/43.3 (20-75) Annual mammography with or without MRI** + CBE every 6-12 mo 3.3 y 92

* CBE = clinical breast examination; MRI = magnetic resonance imaging; NA = not available; RR = relative risk.
** In selected cases (dense breast tissue or BRCA carrier).

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