Table 1 Clinical characteristics of the total patient cohort (n = 237)
From: Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes
Phenotype group | No. | Sex (m / f) | Mean age diagnosis (range) |
|---|---|---|---|
(A) Patients with known pathogenic mutation (group K) | |||
HNPCC / Lynch syndrome | 16 | 9/7 | 43 (25–75) |
Polyposis | 25 | 15/10 | 41 (1–67) |
Li-Fraumeni syndrome | 5 | 3/2 | 17 (0–44) |
Cowden syndrome | 7 | 2/5 | 36 (1–46) |
Hereditary diffuse gastric cancer | 5 | 1/4 | 42 (22–58) |
Others | 6 | 2/4 | 35 (3–70) |
All | 64 | 32/32 | 39 (0–75) |
(B) Patients with unknown cause (group U) | |||
Familial / early onset CRC | 38 | 20/18 | 40 (17–78) |
Polyposis | 32 | 17/15 | 49 (7–73) |
Li-Fraumeni-like syndrome | 39 | 13/26 | 33 (1–77) |
Cowden-like syndrome | 20 | 2/18 | 44 (15–77) |
Familial / early onset gastric cancer | 4 | 1/3 | 36 (33–45) |
Others | 40 | 17/23 | 39 (0–71) |
All | 173 | 70/103 | 41 (0–78) |