Table 1.
Demographics and Rate of non-RB1 variants in the HR and non-HR groups
| Characteristic | Hereditary, n = 49a | Non-hereditary, n = 45a | Overall, N = 94a |
|---|---|---|---|
| Sex | |||
| Female | 22 (45%) | 21 (47%) | 43 (46%) |
| Male | 27 (55%) | 24 (53%) | 51 (54%) |
| Age at time of study (years) | 7 (1-45)b | 6 (0-24)b | 7 (0-45)b |
| Age at RB diagnosis (years) | 1 (0-4)b | 1 (0-9)b | 1 (0-9)b |
| Unknown | 1 | 0 | 1 |
| Race description | |||
| Asian-Far East, Indian Subcontinent | 7 (16%) | 9 (21%) | 16 (18%) |
| Black or African American | 6 (14%) | 6 (14%) | 12 (14%) |
| Other | 4 (9%) | 4 (9%) | 8 (9%) |
| White | 27 (61%) | 24 (56%) | 51 (59%) |
| Unknown | 5 | 2 | 7 |
| Ethnicity description | |||
| Non-Spanish; Non-Hispanic | 40 (83%) | 35 (80%) | 75 (82%) |
| Spanish NOS; Hispanic NOS, Latino NOS | 8 (17%) | 9 (20%) | 17 (18%) |
| Unknown | 1 | 1 | 2 |
| Laterality | |||
| Bilateral | 41 (84%) | 0 (0%) | 41 (44%) |
| Trilateral | 1 (2%) | 0 (0%) | 1 (1%) |
| Unilateral | 7 (14%) | 45 (100%) | 52 (55%) |
| RB1 germline variant | |||
| Negative | 2 (4%) | 45 (100%) | 47 (50%) |
| Positive | 47 (96%) | 0 (0%) | 47 (50%) |
| Germline variant in gene other than RB1 | 6 12% (95%CI: 5%, 25%) |
5 11% (95%CI: 4%, 25%) |
P = .86c |
| CHEK2 | 1 | 0 | |
| ERCC3 | 0 | 1 | |
| FANCC | 0 | 1 | |
| MITF | 1 | 0 | |
| MSH3 | 1 | 1 | |
| MUTYH | 3 | 0 | |
| NTHL1 | 0 | 2 | |
| Second Germline variant in gene other than RB1:TSC2 c.4570-1G>A | 0 (0%) | 1 (2%) |
CI, confidence Interval; NOS, not otherwise specified.
a
n (%).
b
Median (Range).
c
Pearson’s χ2 test.