Table 1.
Characteristics of MPV cohort and single-gene controls
| Sample Characteristic | MPVs |
Single-PV Controls |
Total Controls N (%) |
||||
|---|---|---|---|---|---|---|---|
| N (%) |
ATM N (%) |
BRCA1 N (%) |
BRCA2 N (%) |
CHEK2 N (%) |
PALB2 N (%) |
||
| Total N | 653 | 1367 (15.4) | 2535 (28.5) | 2668 (30) | 1605 (18.1) | 708 (8) | 8883 (100) |
| Sex | |||||||
| Female | 544 (83.3) | 1275 (93.3) | 2407 (95.0) | 2425 (90.9) | 1475 (91.9) | 676 (95.5) | 8258 (93.0) |
| Male | 109 (16.7) | 92 (6.7) | 128 (5.0) | 243 (9.1) | 130 (8.1) | 32 (4.5) | 625 (7.0) |
| Race, ethnicity, and ancestry | |||||||
| African American/Black | 19 (2.9) | 58 (4.2) | 228 (9.0) | 234 (8.8) | 24 (1.5) | 45 (6.4) | 589 (6.6) |
| Ashkenazi Jewish | 59 (9.0) | 74 (5.4) | 185 (7.3) | 146 (5.5) | 67 (4.2) | 21 (3.0) | 493 (5.5) |
| Asian | 14 (2.1) | 36 (2.6) | 127 (5.0) | 136 (5.1) | 16 (1.0) | 35 (4.9) | 350 (3.9) |
| Hispanic | 25 (3.8) | 63 (4.6) | 223 (8.8) | 180 (6.7) | 45 (2.8) | 46 (6.5) | 557 (6.3) |
| White | 440 (67.4) | 936 (68.5) | 1433 (56.5) | 1604 (60.1) | 1299 (80.9) | 475 (67.1) | 5747 (64.7) |
| Other/Unknown | 96 (14.7) | 200 (14.6) | 339 (13.4) | 368 (13.7) | 154 (9.6) | 86 (12.1) | 1147 (12.9) |
| Number of primary cancer(s) | |||||||
| 0 | 117 (17.9) | 271 (19.8) | 430 (17.0) | 465 (17.4) | 316 (19.7) | 107 (15.1) | a |
| 1 | 345 (52.8) | 762 (55.7) | 1542 (60.8) | 1621 (60.8) | 895 (55.8) | 448 (63.3) | a |
| ≥2 | 182 (27.9) | 299 (21.9) | 490 (19.3) | 506 (19.0) | 365 (22.7) | 144 (20.3) | a |
| Unknown | 9 (1.4) | 35 (2.6) | 73 (2.9) | 76 (2.8) | 29 (1.8) | 9 (1.3) | a |
| Median age at genetic testing (IQR) | 53 (19) | 52 (19) | 49 (20) | 53 (21) | 53 (20) | 53 (19) | 52 (19) |
| Median age at first cancer diagnosis (IQR) | 46 (16) | 47 (17) | 44 (16) | 49 (18) | 47 (15) | 48 (16) | a |
| Breast cancer among females | |||||||
| Yes | 321 (59.0) | 832 (65.3) | 1483 (61.6) | 1529 (63.1) | 1023 (69.4) | 524 (77.5) | a |
| No | 215 (39.5) | 410 (32.2) | 854 (35.5) | 829 (34.2) | 428 (29.0) | 143 (21.2) | a |
| Unknown | 8 (1.5) | 33 (2.6) | 70 (2.9) | 67 (2.8) | 24 (1.6) | 9 (1.3) | a |
| Median age at first breast cancer diagnosis (IQR) among females | 47 (16) | 46 (15) | 41 (15) | 46 (16) | 47 (15) | 48 (15) | a |
IQR, interquartile range; MPV, multiple PVs in one individual (adjective); MPVs, multiple PVs in one individual (plural noun); PV, pathogenic or likely pathogenic variant.
a
Not analyzed because of heterogeneity.