Familial Syndrome | Clinical Characteristics | Inheritance Pattern | Involved Gene | Thyroid Cancer |
---|---|---|---|---|
Multiple endocrine neoplasia (MEN) 2A and 2B | 2A: MTC, pheochromocytoma, primary hyperparathyroidism 2B: MTC, pheochromocytoma, neurofibromatosis |
Autosomal dominant | RET proto-oncogene | MTC |
Familial medullary thyroid cancer | Isolated medullary thyroid cancer | Autosomal dominant | RET proto-oncogene | MTC |
McCune Albright syndrome | Precocious puberty, polyostotic fibrous dysplasia, café-au-lait spots | Mosaic | GNAS1 | FC |
Familial adenomatous polyposis (FAP) | Intestinal adenomatous polyps | Autosomal dominant | APC tumor suppressor gene | PTC |
Gardner syndrome | Variant of FAP, with addition of desmoid tumors, ostomas | Autosomal dominant | APC tumor suppressor gene | PTC |
Carney complex | Hyperpigmentation of mucosa, schwannomas, pituitary and testicular tumors | Autosomal dominant | PRKARI | PTC |
Cowden syndrome | Hamartomas of multiple organs | Autosomal dominant | PTEN tumor suppressor gene | FC |
Werner syndrome | DM, cataracts, muscle atrophy, premature aging | Autosomal dominant | WRN | FC, PTC |