Table 1.
Characteristics of the Study Population
| Gene with variant, No. (%) of participants | ||||||||
|---|---|---|---|---|---|---|---|---|
| Characteristic | All (N = 684) | BRCA1 (n = 235) | BRCA2 (n = 217) | PALB2 (n = 121) | ATM (n = 50) | CHEK2 (n = 61) | P value | |
| Age at first breast cancer diagnosis, mean (range), y | 53 (23–83) | 50 (23–74) | 54 (27–82) | 54 (23–83) | 58 (36–76) | 57 (28–77) | NA | |
| Race and ethnicitya | ||||||||
| Asian | 4 (1) | 1 (0) | 1 (1) | 2 (2) | 0 | 0 | .47 | |
| Black | 32 (5) | 16 (7) | 9 (4) | 6 (5) | 1 (2) | 0 | ||
| White | 623 (91) | 210 (89) | 203 (94) | 106 (88) | 46 (92) | 58 (95) | ||
| Other | 3 (0) | 1 (0) | 1 (1) | 1 (1) | 0 | 0 | ||
| Unknown | 22 (3) | 7 (3) | 3 (1) | 6 (5) | 3 (6) | 3 (5) | ||
| First breast cancer surgery | ||||||||
| Lumpectomy | 203/524 (39) | 72/182 (40) | 60/167 (36) | 37/91 (41) | 10/31 (32) | 24/53 (45) | .73 | |
| Mastectomy | 90/524 (17) | 33/182 (18) | 34/167 (20) | 13/91 (14) | 4/31 (13) | 6/53 (11) | ||
| Bilateral mastectomy | 231/524 (44) | 77/182 (42) | 73/167 (44) | 41/91 (45) | 17/31 (55) | 23/53 (43) | ||
| Data missing | 160/684 (23) | 53/235 (23) | 50/217 (23) | 30/121 (25) | 19/50 (38) | 8/61 (13) | ||
| Received radiotherapy | 260 (38) | 95 (40) | 79 (36) | 48 (40) | 14 (28) | 24 (39) | .60 | |
| Relatives with breast cancerb | ||||||||
| family history | 122 (18) | 39 (17) | 32 (15) | 27 (22) | 9 (18) | 15 (25) | .46 | |
| First degree | 321 (47) | 105 (45) | 114 (53) | 52 (43) | 26 (52) | 24 (39) | ||
| Second degree | 189 (28) | 69 (29) | 58 (27) | 35 (29) | 12 (24) | 15 (25) | ||
| Third degree | 52 (8) | 22 (9) | 13 (6) | 7 (6) | 3 (6) | 7 (11) | ||
a
Self-reported on the survey. The Inherited Cancer Registry is open to individuals of all races and ethnicities; these data were included to show the demographic characteristics of the study population. The 3 participants who selected “Other” were prompted to write their race in a text box and indicated Eastern Indian, Mestizo, and Pakistani.
b
Categorized into 4 mutually exclusive categories based on the closest relative with a history of breast cancer: (1) at least 1 first-degree relative, (2) at least 1 second-degree relative, (3) at least 1 third-degree relative, and (4) no first-, second-, or third-degree relatives (ie, no family history).