Table 1.
Characteristics of the Study Cohort
| Characteristic | No. (%) | ||
|---|---|---|---|
| Total (N = 1040) | Results of 76-Gene Germline Sequencing | ||
| Tested Negative (n = 835) | Tested Positive (n = 205) | ||
| Sex | |||
| Male | 679 (65.3) | 548 (65.6) | 131 (63.9) |
| Female | 361 (34.7) | 287 (34.4) | 74 (36.1) |
| Age at diagnosis, median (IQR), y | 58 (50.5–66) | 58 (51–67) | 58 (49–65) |
| Tumor typea | |||
| Adrenocortical | 7 (0.7) | 6 (0.7) | 1 (0.5) |
| Ampullary | 3 (0.3) | 2 (0.2) | 1 (0.5) |
| Biliary | 27 (2.6) | 21 (2.5) | 6 (2.9) |
| Bladder | 16 (1.5) | 7 (0.8) | 9 (4.4) |
| Breast | 101 (9.7) | 84 (10.0) | 17 (8.3) |
| Colorectal | 65 (6.2) | 57 (6.8) | 8 (3.9) |
| Endometrial | 25 (2.4) | 21 (2.5) | 4 (1.9) |
| Esophagogastric | 34 (3.3) | 28 (3.4) | 6 (2.9) |
| Melanoma | 3 (0.3) | 2 (0.2) | 1 (0.5) |
| Mesothelioma | 4 (0.4) | 3 (0.4) | 1 (0.5) |
| Paraganglioma | 2 (0.2) | 1 (0.1) | 1 (0.5) |
| Non–small cell lung | 2 (0.2) | 0 | 2 (1.0) |
| Ovarian | 19 (1.8) | 13 (1.6) | 6 (2.9) |
| Pancreatic | 176 (16.9) | 132 (15.8) | 44 (21.5) |
| Prostate | 362 (34.8) | 291 (34.9) | 71 (34.6) |
| Renal cell | 140 (13.5) | 117 (14.0) | 23 (11.2) |
| Small-bowel | 5 (0.5) | 3 (0.4) | 2 (1.0) |
| Unknown primary | 10 (1.0) | 8 (1.0) | 2 (1.0) |
| Other | 39 (3.7) | 39 (4.7) | 0 |
| Stagea,b | |||
| 0 | 3 (0.3) | 3 (0.4) | 0 |
| I | 34 (3.3) | 31 (3.7) | 3 (1.5) |
| II | 82 (7.9) | 74 (8.8) | 8 (3.9) |
| III | 75 (7.2) | 70 (8.4) | 5 (2.4) |
| IV | 846 (81.3) | 657 (78.7) | 189 (92.2) |
Abbreviation: IQR, interquartile range.
a
The number of patients with each diagnosis and stage are listed according to mutation status and corresponding to organ sites listed under tumor types.
b
Stage was determined at the time of genomic testing.