TABLE 1.
Clinical Characteristics of Individuals Receiving Germline Testing
| AD HLRCC Variants (n = 289)a | AR FMRD Variants (n = 415)a | VUS (n = 690)a | Negative Genetic Testing (n = 103,010)a | Total (n = 120,061) | |
|---|---|---|---|---|---|
| Age, y | |||||
| Mean (SD) | 45.8 (14.4) | 56.6 (15.4) | 54.8 (15.2) | 55.3 (15.0) | 54.8 (14.9) |
| Sex, No. (%) | |||||
| Male | 82 (28.4) | 84 (20.2) | 115 (16.7) | 18,716 (18.2) | 22,535 (18.8) |
| Female | 207 (71.6) | 331 (79.8) | 575 (83.3) | 84,291 (81.8) | 97,523 (81.2) |
| Ethnicity, No. (%) | |||||
| Ashkenazi Jewish | 2 (0.7) | 26 (6.3) | 7 (1.0) | 3158 (3.1) | 3705 (3.1) |
| Asian or Pacific Islander | 14 (4.8) | 1 (0.2) | 59 (8.6) | 5120 (5.0) | 5708 (4.8) |
| Black/African American | 12 (4.2) | 5 (1.2) | 69 (10.0) | 6344 (6.2) | 7128 (5.9) |
| Hispanic | 13 (4.5) | 3 (0.7) | 33 (4.8) | 6218 (6.0) | 7227 (6.0) |
| Mediterranean or Sephardic Jewish | 1 (0.3) | 0 (0.0) | 2 (0.3) | 428 (0.4) | 493 (0.4) |
| Native American | 1 (0.3) | 1 (0.2) | 3 (0.4) | 331 (0.3) | 378 (0.3) |
| White/Caucasian or French Canadian | 208 (72.0) | 323 (77.8) | 419 (60.7) | 67,367 (65.4) | 79,075 (65.9) |
| Other or unknown | 38 (13.1) | 56 (13.5) | 98 (14.2) | 14,044 (13.6) | 16,347 (13.6) |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; FH, fumarate hydratase; FMRD, fumarase deficiency; HLRCC, hereditary leiomyomatosis and renal cell cancer; SD, standard deviation; VUS, variant of unknown significance.
a
Excludes individuals with germline variants in genes other than FH.