Foulkes W D
Department of Medicine, McGill University, Montreal General Hospital, Canada.
QJM. 1995 Dec;88(12):853-63.
Familial adenomatous polyposis (FAP), Gardner syndrome (polyposis, osteomas and epitheliomas), flat adenoma syndrome (attenuated APC) and Turcot syndrome (colorectal polyposis with brain tumours) are distinctive clinical syndromes. Each is caused by mutations in the adenomatous polyposis coli (APC) gene on chromosome 5q21, although Turcot syndrome may have other causes. A variety of APC mutations are recognized, which can be associated with the character and severity of the clinical syndromes.
家族性腺瘤性息肉病（FAP）、加德纳综合征（息肉病、骨瘤和上皮瘤）、扁平腺瘤综合征（弱化型APC）和Turcot综合征（伴有脑肿瘤的结直肠息肉病）是独特的临床综合征。每一种综合征都是由5号染色体q21区域的腺瘤性息肉病基因（APC）突变引起的，不过Turcot综合征可能还有其他病因。已识别出多种APC突变，它们可能与临床综合征的特征和严重程度相关。
