TABLE 2.
Cancer Prevalence Among Individuals With FH Variants Versus Negative Genetic Testing
| Cancer Type | AD HLRCC Variants (n = 289), No. (%)a | AR FMRD Variants (n = 415), No. (%)a | VUS (n = 690), No. (%)a | Negative Genetic Testing (n = 103,010), No. (%)a | Total (n = 120,061), No. (%) |
|---|---|---|---|---|---|
| Breast | 18 (6.2) | 140 (33.7) | 231 (33.5) | 36,577 (35.5) | 42,459 (35.4) |
| Colorectal | 10 (3.5) | 26 (6.3) | 49 (7.1) | 6272 (6.1) | 7561 (6.3) |
| Renal | 49 (17.0) | 18 (4.3) | 44 (6.4) | 4639 (4.5) | 5357 (4.5) |
| Skin | 2 (0.7) | 22 (5.3) | 32 (4.6) | 4284 (4.2) | 5145 (4.3) |
| Gastrointestinal, otherb | 3 (1.0) | 19 (4.6) | 23 (3.3) | 4247 (4.1) | 5103 (4.3) |
| Prostate | 4 (1.4) | 14 (3.4) | 17 (2.5) | 4063 (3.9) | 4776 (4.0) |
| Ovarian | 4 (1.4) | 18 (4.3) | 24 (3.5) | 3926 (3.8) | 4816 (4.0) |
| Pancreatic | 0 (0.0) | 18 (4.3) | 19 (2.8) | 3329 (3.2) | 4037 (3.4) |
| Endocrine/neuroendo-crine, otherc | 5 (1.7) | 12 (2.9) | 16 (2.3) | 3174 (3.1) | 3718 (3.1) |
| Other tumors | 37 (12.8) | 8 (1.9) | 23 (3.3) | 2895 (2.8) | 3404 (2.8) |
| Gynecologic, otherd | 6 (2.1) | 9 (2.2) | 17 (2.5) | 2579 (2.5) | 3103 (2.6) |
| Hematologic | 1 (0.3) | 6 (1.4) | 12 (1.7) | 1569 (1.5) | 1901 (1.6) |
| Sarcoma | 3 (1.0) | 6 (1.4) | 7 (1.0) | 1379 (1.3) | 1638 (1.4) |
| Lung | 3 (1.0) | 4 (1.0) | 10 (1.4) | 1350 (1.3) | 1612 (1.3) |
| PGL/PCC | 1 (0.3) | 6 (1.4) | 16 (2.3) | 881 (0.9) | 1203 (1.0) |
| Brain tumor | 1 (0.3) | 0 (0.0) | 5 (0.7) | 777 (0.8) | 936 (0.8) |
| Genitourinary, othere | 1 (0.3) | 4 (1.0) | 7 (1.0) | 533 (0.5) | 694 (0.6) |
| Head and neck | 1 (0.3) | 0 (0.0) | 1 (0.1) | 84 (0.1) | 100 (0.1) |
| Uterine leiomyomas | 6 (2.1) | 0 (0.0) | 3 (0.4) | 30 (0.0) | 42 (0.0) |
| Leiomyosarcoma | 1 (0.3) | 0 (0.0) | 1 (0.1) | 2 (0.0) | 4 (0.0) |
| Any cancer | 133 (46.0) | 268 (64.6) | 446 (64.6) | 68,095 (66.1) | 80,061 (66.7) |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; FH, fumarate hydratase; FMRD, fumarase deficiency; HLRCC, hereditary leiomyomatosis and renal cell cancer; PGL/PCC, paraganglioma/pheochromocytoma; VUS, variant of unknown significance.
a
Excludes individuals with germline variants in genes other than FH.
b
Excludes colorectal and pancreatic cancer.
c
Excludes PGL/PCC.
d
Excludes ovarian and uterine leiomyomas
e
Excludes renal and prostate cancer.