【已刪除】91 20 歲男性，在進行大腸鏡檢查時發現數以千計的瘜肉，有關此病人的敘述何者錯誤？
(A)此病為體染色體隱性遺傳
(B)此病人很可能有 APC 基因突變
(C)如果不治療，90%以上的病人會發生大腸癌
(D)此病常見 β-catenin 途徑不正常活化

答案：登入後查看
統計： A(15), B(1), C(1), D(7), E(0) #1323841

詳解 (共 2 筆)

#2597696
家族性腺瘤性息肉症 (FAP)  染色...





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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 10-20

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