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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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