Autosomal Dominant

RB1 gene (tumor supressor)

Later: osteogenic sarcoma

Autosomal Dominant

Parathyroid

Pituitary

Pancreas islet cell tumors

Autosomal Dominant

Thyroid (medullary cancer)

Parathyroid

Pheochromocytoma

Autosomal Dominant

Thyroid (medullary cancer)

Pheochromocytoma

Mucosal neuromas

Autosomal Dominant

Hundreds of colonic poyps

100% CRC incidence

Autosomal dominant

Familial polyposis

Osteomas

Soft tissue tumors

Autosomal Dominant

Familial polyposis

CNS tumors

Autosomal Dominant

Hyperpigmented macules on lips/oral mucosa

Multiple GI hamartomas

Increased incidence of non-colon cancer

----------stomach, breast, ovaries

Autosomal Dominant

Multiple neurofibromas

Cafe-au-lait spots

Pheochromocytoma

Bone cysts

Wilms' tumor (nephroblastoma)

Autosomal Dominant

Bilateral acoustic schwannomas

Autosomal Dominant

Cerebellar hemangiomas

Renal cell cancer

Liver cysts

+/- Renal cysts

Autosomal Recessive

Inability to repair UV DNA damage

Skin cancer

Autosomal Recessive

Normal # melanocytes

Inability to produce melanin

Skin cancer

Trisomy 21

Meiotic nondisjunction

a/w ALL

Autosomal Dominant

Adenoma sebaceum (facial angiofobromas)

Seizures

MR

Glial nodules in brain

Renal angiomyolipomas

Cardiac rhabdomyomas