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. Author manuscript; available in PMC: 2022 Jun 6.
Published in final edited form as: Cancer. 2021 Nov 1;128(4):675–684. doi: 10.1002/cncr.33997

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.