Familial Adenomatous Polyposis (FAP)

Inheritance Pattern

 * Autosomal Dominant
 * De novo rate = ~30%

Gene

 * APC
 * chromosome 5q
 * genetic heterogeneity; most families have unique mutations
 * most mutations are protein truncating

Oncology

 * adenomas (>100) = 90% penetrance
 * colorectal cancer = 100% penetrance if polyposis untreated


 * upper gastrointestinal cancer
 * desmoid tumor
 * osteoma
 * thyroid cancer
 * brain cancer
 * hepatoblastoma

Ophthalmology

 * CHRPE (congenital hypertrophy of the retinal pigment epithelium)

Dentology

 * supernumerary teeth

Dermatology

 * epidermoid cyst