【DD】評論
家族性腺瘤性息肉症 (FAP) 染色體顯性遺傳,只要子女獲得父母其中一條具有APC基因突變的染色體,就會引發FAP
【Chris】評論
Familial polyposis – need to have over 100 polyps to have familial polyposis. This dz is autosomal dominant, uses APC suppressor gene, ras, and p53; APC is the major one. Will always get cancer in them, usually between 35-40. Therefore, will need to prophylactically remove the bowel. The autosomal dominant dz is famous for late manifestations, penetrance, and variable expressivity (as are all other AD dz’s). This means that they will not be born with polyps at birth (they start developing btwn the ages of 10-2...