Table 1.
CCF patients with germline alterations in known cancer-predisposing genes.
| Case# | Sex, age | C-AYA tumors | Syndrome | Gene | Germline alterations |
|---|---|---|---|---|---|
| CCF12237 | M, 27 years | Chondroblastic osteosarcoma of the left maxilla, 22 years | Li–Fraumeni syndrome | TP53 | NM_000546.5; c.916C>T (p.Arg306*) |
| Odontoameloblastoma of the left mandible, 24 years | BRCA2 | NM_000059.3; c.4284dupT (p.Gln1429Serfs*9) | |||
| Leiomyosarcoma of the right scrotum, 25 years | |||||
| CCF11829 | F, 17 years | Osteosarcoma, 10 years | None | GJB2 | NM_004004; c.35delG (p.G12fs*2) |
| DDX10 | NM_004398; duplication (Chr11:108535752-108811657) |
C-AYA children, adolescents, and young adults.