Family and personal cancer history by test result
| Variable | Result of predictive testing*; no. (%) of participants† | Result of nonpredictive testing‡; no. (%) of participants† | |||
|---|---|---|---|---|---|
| Positive n = 955 | Negative n = 1341 | Positive n = 1078 | VUS n = 1175 | Negative n = 11 437 | |
| Family cancer history | |||||
| Breast cancer | |||||
| First-degree relatives with breast cancer | 524 (43.7) | 675 (56.3) | 449 (7.2) | 530 (8.5) | 5269 (84.3) |
| 1 relative | 413 (44.2) | 521 (55.8) | 362 (7.3) | 409 (8.2) | 4,201 (84.5) |
| ≥ 2 relatives | 111 (41.9) | 154 (58.1) | 87 (6.8) | 121 (9.5) | 1068 (83.7) |
| Second-degree relatives with breast cancer | 545 (42.1) | 749 (57.9) | 501 (7.9) | 540 (8.5) | 5275 (83.5) |
| 1 relative | 322 (43.0) | 426 (57.0) | 325 (8.0) | 337 (8.3) | 3378 (83.6) |
| ≥ 2 relatives | 223 (40.8) | 323 (59.2) | 176 (7.7) | 203 (8.9) | 1897 (83.3) |
| First- or second-degree relatives with breast cancer | 769 (42.3) | 1050 (57.7) | 717 (7.6) | 802 (8.5) | 7903 (83.9) |
| 1 relative | 329 (42.5) | 445 (57.5) | 340 (7.7) | 367 (8.3) | 3708 (84.0) |
| ≥ 2 relatives | 440 (42.1) | 605 (57.9) | 377 (7.5) | 435 (8.7) | 4195 (83.8) |
| Ovarian cancer | |||||
| First-degree relatives with ovarian cancer | 216 (45.8) | 256 (54.2) | 195 (12.8) | 142 (9.3) | 1187 (77.9) |
| 1 relative | 195 (45.8) | 231 (54.2) | 184 (12.8) | 131 (9.1) | 1123 (78.1) |
| ≥ 2 relatives | 21 (45.7) | 25 (54.3) | 11 (12.8) | 11 (12.8) | 64 (74.4) |
| Second-degree relatives with ovarian cancer | 225 (40.5) | 330 (59.5) | 175 (11.0) | 144 (9.1) | 1267 (79.9) |
| 1 relative | 189 (41.7) | 264 (58.3) | 158 (11.4) | 122 (8.8) | 1107 (79.8) |
| ≥ 2 relatives | 36 (35.3) | 66 (64.7) | 17 (8.5) | 22 (11.1) | 160 (80.4) |
| First- or Second-degree relatives with ovarian cancer | 392 (42.8) | 523 (57.2) | 323 (11.6) | 255 (9.1) | 2212 (79.3) |
| 1 relative | 301 (43.7) | 388 (56.3) | 259 (11.4) | 195 (8.6) | 1820 (80.0) |
| ≥ 2 relatives | 91 (40.3) | 135 (59.7) | 64 (12.4) | 60 (11.6) | 392 (76.0) |
| Personal cancer history | |||||
| Breast cancer | |||||
| Unaffected at time of testing | 806 (38.4) | 1293 (61.6) | 531 (9.0) | 457 (7.8) | 4893 (83.2) |
| Affected at time of testing | 149 (75.6) | 48 (24.4) | 547 (7.0) | 718 (9.2) | 6544 (83.8) |
| Age at diagnosis, yr, mean ± SD | 47.2 ± 12.8 | 55.6 ± 13.6 | 44.4 ± 10.6 | 48.8 ± 12.1 | 50.3 ± 11.7 |
| Ovarian cancer | |||||
| Unaffected at time of testing | 920–925 (40.7–40.9) | 1335–1341 (59.1–59.3) | 817 (6.7) | 1044 (8.6) | 10 289 (84.7) |
| Affected at time of testing | 30–35 (85.7–100) | < 6 (0–14.3) | 261 (16.9) | 131 (8.5) | 1148 (74.5) |
| Age at diagnosis, yr, mean ± SD | 54.6 ± 12.8 | – | 53.9 ± 9.6 | 56.4 ± 13.5 | 60.0 ± 12.1 |
| Other cancers | |||||
| Pancreas | – | – | 7 (6.6) | 10 (9.4) | 89 (84.0) |
| Colorectal | – | – | 7 (9.6–10.3) | < 6 (0–6.8) | 61 (83.6–89.7) |
| Endometrial | – | – | 7 (6.0) | 14 (12.1) | 95 (81.9) |
| Other | – | – | 18 (3.8) | 26 (5.5) | 428 (90.7) |
| No. of cancers | |||||
| 0 | 736 (37.3) | 1237 (62.7) | 266 (7.1) | 287 (7.7) | 3190 (85.2) |
| 1 | 199 (68.2) | 93 (31.8) | 704 (7.9) | 815 (9.1) | 7415 (83.0) |
| ≥ 2 | 20 (64.5) | 11 (35.5) | 108 (10.7) | 73 (7.2) | 832 (82.1) |
Note: SD = standard deviation, VUS = variant of uncertain significance.
↵* Predictive testing refers to familial testing for a specific risk-increasing variant known to be carried by a family member of the individual being tested.
↵† Except where indicated otherwise. Values for small cells are presented as ranges or suppressed (where value < 6) to prevent back-calculation.
↵‡ Nonpredictive testing refers to founder testing for the 3 variants carried in highest frequency among the Ashkenazi Jewish population and complete analysis of the BRCA1 and BRCA2 genes. Thirty-three women underwent predictive testing for and were found to carry a VUS previously identified in a family member; these women are included in the VUS column.