Table 1.
Syndrome | Clinical Features | Inheritance pattern | Locus | Gene |
---|---|---|---|---|
Gardner's syndrome (FAP) | gastrointestinal adenomatous polyps, osteomas, epidermoid cysts, hypertrophy of the retinal epithelium, desmoid tumors, PTC (cribiform-morular variant) | Autosomal dominant | 5q21 | APC |
| ||||
Cowden disease | hamartoma, breast cancer, PTC, FTC | Autosomal dominant | 10q22 | PTEN |
| ||||
Carney complex | pituitary, gonadal, and adrenal gland cancer, PTC, FTC | Autosomal dominant | 17q23-24 | PRKAR1a |
| ||||
Werner syndrome | Premature aging, soft tissue sarcomas, osteosarcoma, FTC/PTC | Autosomal recessive | 8p11-p12 | WRN |