Cowden syndrome |
PTEN |
FTC, PTC |
3–10 % |
Breast cancer, endometrial cancer, goiter, macrocephaly, uterine fibroids, colon polyps, and Lhermitte-Duclos disease |
Familial adenomatous polyposis |
APC |
PTC, cribriform morular variant |
2 % |
Marked colonic polyposis, congenital hypertrophy of the retinal pigment epithelium |
Carney complex |
PRKAR1A |
FTC, PTC |
Unknown |
Pigmented abnormalities of the skin, myxomas, schwannomas, and endocrine tumors |
Werner syndrome |
WRN |
FTC |
Unknown |
Scleroderma-like skin changes, bilateral cataracts, graying and loss of hair, diabetes mellitus, and other cancers |