Table 1.
Summary of clinical and molecular feature of tumor types reported more than once in patients with germline BAP1 mutations
| Tumor type | Tumor features in patients with BAP1 germline mutation
|
Tumor characteristics in general population
|
Sporadic tumors Somatic mutation frequency (32) | |||||
|---|---|---|---|---|---|---|---|---|
| Reported frequency | Sex ratio M:F | Median age of onset in BAP1 patients (range) | Tumor biallelic inactivation reported (n) | References | Lifetime risk (reference) | Median age of onset (reference) | ||
| Uveal melanoma | 54/174 | 23:25 | 51 (16–72) | Yes (7) | 2–5, 18, 19, 21–31 | 0.00051% (31) | 62 | 54/233 |
| Mesothelioma | 39/174 | 12:27 | 56 (34–85) | Yes (7) | 2, 3, 5, 18, 30, 31, 33–35 | 0.13% (33)a | 74 (36) | 26/153 |
| Cutaneous melanoma | 23/174 | 13:10 | 46 (25–72) | Yes (4) | 2, 4, 5, 22, 24, 27, 29–31, 35 | 3.25% (37)a | 58 (37) b | 15/820 |
| Renal cell carcinoma | 18/174 | 8:7 | 47 (36–72) | Yes (5) | 3, 5, 18, 25, 29, 38–40 | 1.60% (37)a | 64 (37)b | 138/1508 |
| Abdominal cancer | 2/174 | 0:2 | 64 (57–64) | N/A | 18, 22 | – | – | 21/1934 |
| Basal cell carcinoma | 11/174 | 4:7 | 50 (42–65) | Yes (9) | 3, 5, 22, 24, 31 | – | – | – |
| Breast cancer | 9/95 | 9 | 58 (37–85) | Yes (2) | 3, 5, 18, 29–31 | 12.33% (37)a | 61 (37)b | 11/1688 |
| Cholangiocarcinoma | 4/174 | 2:2 | 66 (47–71) | N/A | 18, 28, 29, 31 | 0.83% (37)a | 50 (41) | 16/113 |
| Colorectal cancer | 2/174 | 1:1 | 62 (53–71) | N/A | 18, 25 | 4.96% (37)a | 71 (37)b | 42/1132 |
| Lung cancer | 6/174 | 3:3 | 56 (46–59) | Yes (1) | 2, 22, 29, 30 | 6.99% (37)a | 70 (37)b | 9/1031 |
| Meningioma | 3/174 | 0:3 | 44 (35–52) | Yes (2) | 2, 31, 42 | – | 65 (43) | 0/65 |
| Neuroendocrine cancer | 2/174 | 1:1 | 47 (42–52) | Yes (1) | 2, 30 | – | – | 5/2545 |
| Ovarian cancer | 3/95 | 3 | 59 (34–69) | N/A | 2, 3 | 1.12% (37)a | 63 (37)b | 6/890 |
| Prostate cancer | 2/67 | 2 | 65 (63–67) | N/A | 25, 27 | 16.15% (37)a | 68 (37)b | 5/861 |
| Sarcoma | 4/174 | 1:3 | 45 (42–64) | N/A | 3, 18, 30 | – | – | 0/353 |
| Thyroid cancer | 2/174 | 0:2 | 38 (34–41) | No | 5, 42 | 0.90% (37)a | 47 (37)b | 1/535 |
F, female; M, male; N/A, not applicable; SEER, Surveillance, Epidemiology and End Results.
a
Age-adjusted SEER data from 2007 to 2009.
b
SEER data from 2000 to 2003.