Familial adenomatous polyposis: from bedside to benchside.
Familial adenomatous polyposis: from bedside to benchside.
复制标题
家族性腺瘤性息肉病：从床边到实验室。
DOI：
10.1093/ajcp/109.5.521
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发表时间：
1998
影响因子：
3.5
通讯作者：
Cuimin T. Doyle
中科院分区：
文献类型：
--
作者：
Maureen J. O'Sullivan;Tommie V. McCarthy;Cuimin T. Doyle
家族性腺瘤性息肉病（FAP）是一种显性遗传的癌症易感综合征，发病率为1：17，000至1：5，000。这种情况与位于5 q21的腺瘤性结肠息肉病（APC）基因突变有因果关系。事实上，APC基因中的所有突变都是截短突变，导致APC蛋白的功能丧失。该基因的自发生殖系突变频繁发生，并占FAP的高发病率。该基因在结直肠腺瘤-癌进展的早期发生体细胞突变。APC基因的体细胞突变也经常在各种其他人类癌症中观察到。APC基因的分离导致了对基因型-表型相关性的认识，并与蛋白质研究一起，有助于阐明APC蛋白的结构和功能。这份报告的目的是采取读者从临床欣赏的分子理解FAP。
Familial adenomatous polyposis (FAP) is a dominantly inherited cancer-predisposition syndrome with an incidence of between 1:17,000 and 1:5,000. The condition has been causally linked to mutation of the adenomatous polyposis coli (APC) gene located at 5q21. Virtually all mutations in the APC gene are truncating mutations, resulting in loss of function of the APC protein. Spontaneous germline mutation of this gene occurs frequently and accounts for the high incidence of FAP. The gene is somatically mutated at an early point in the colorectal adenoma-carcinoma progression. Somatic mutations of the APC gene are also frequently observed in a variety of other human carcinomas. Isolation of the APC gene has led to the recognition of genotype-phenotype correlations and, together with protein studies, has helped to elucidate the structure and function of the APC protein. This report aims to take the reader from a clinical appreciation to a molecular understanding of FAP.