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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)
  1. CRC = colorectal cancer, f = female, HNPCC = hereditary non-polyposis colorectal cancer; m = male