Table 1.
Patient Demographics and Cancer Phenotype
| Patients studied by WES | Pathogenic variants1 | Patients studied by multi-gene panel | Pathogenic variants1 | |
|---|---|---|---|---|
| Total | 29 | 4 | 125 | 5 |
| Male/Female | 12/17 | 0/4 | 54/71 | 4/1 |
| Age at UM diagnosis (median, range) | 55 (0.25–79) | 49 (46–67) | 58 (15–87) | 58 (50–89) |
| Patients diagnosed UM at young age (<35) | 2 | 0 | 12 | 0 |
| - Age of patients (years) | 0.25, 25 | 15, 19, 23, 27 (x4), 28 (x2), 29, 31, 33 | ||
| Treatment | ||||
| - Enucleation | 5 | 2 | 37 | 2 |
| TNM Stage | ||||
| - pT1 | 4 | 0 | 13 | 1 |
| - pT2 | 5 | 2 | 26 | 0 |
| - pT3 | 5 | 0 | 43 | 1 |
| - pT4 | 1 | 0 | 8 | 0 |
| - Unknown | 14 | 2 | 37 | 3 |
| Clinical outcome | ||||
| - Average Follow Up (months) | 78 | 68 | 102 | 90.8 |
| - Alive | 22 | 3 | 89 | 4 |
| - Deceased | 6 | 1 | 36 | 1 |
| - Unknown | 1 | 0 | 0 | 0 |
| - Metastatic UM | 5 | 1 | 29 | 2 |
| Bilateral or multiple UM | 1 | 0 | 4 | 0 |
| Personal /family history of cancer*: | 29 | 4 | 125 | 6 |
| - BAP1-TPDS | 18 | 2 | 31 | 0 |
| - Lynch Syndrome | 0 | 0 | 2 | 1 |
| - Breast Ovarian | 3 | 1 | 14 | 2 |
| - Familial Melanoma | 0 | 0 | 3 | 0 |
| - Nonspecific | 10 | 1 | 83 | 3 |
| Family History of UM + | 25 | 3 | 2 | 0 |
| - BAP1-TPDS | 15 | 2 | 1 | 0 |
| - Lynch Syndrome | 0 | 0 | 0 | 0 |
| - Breast Ovarian | 1 | 0 | 0 | 0 |
| - Nonspecific | 9 | 1 | 1 | 0 |
1)
Pathogenic variants (null or confirmed pathogenic missense) in established hereditary cancer predisposition gene
WES: whole exome sequencing
BAP1-TPDS: BAP1 tumor predisposition syndrome
*
Cancer syndrome classification is based on clinical presentation. Numbers are greater than total because more than one individual may be at risk for more than one syndrome.