MUTATIONS OF CHROMOSOME-5Q21 GENES IN FAP AND COLORECTAL-CANCER PATIENTS
MUTATIONS OF CHROMOSOME-5Q21 GENES IN FAP AND COLORECTAL-CANCER PATIENTS
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DOI：
10.1126/science.1651563
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发表时间：
1991-08-09
期刊：
影响因子：
56.9
通讯作者：
VOGELSTEIN, B
中科院分区：
文献类型：
--
作者：
NISHISHO, I;NAKAMURA, Y;VOGELSTEIN, B
以往的研究表明，染色体5q21上的一个或多个基因与家族性腺瘤性息肉病(FAP)和Gardner综合征(GS)的遗传有关，并与非遗传性结直肠癌患者的肿瘤发生有关。在散发性结直肠癌患者的肿瘤中，发现与FAP紧密连锁的5q21上的两个基因(MCC和APC)发生了躯体改变。在FAP和GS患者的生殖系中，还发现其中一个基因(APC)被点突变改变。这些数据表明，染色体5q21上的多个基因可能与结直肠癌的发生有关，APC基因的突变可同时引起FAP和GS。这些基因的识别将有助于了解结直肠癌的发病机制，并有助于诊断和咨询具有遗传易感性的结直肠癌患者。
Previous studies suggested that one or more genes on chromosome 5q2l are responsible for the inheritance of familial adenomatous polyposis (FAP) and Gardner's syndrome (GS), and contribute to tumor development in patients with noninherited forms of colorectal cancer. Two genes on 5q2l that are tightly linked to FAP (MCC and APC) were found to be somatically altered in tumors from sporadic colorectal cancer patients. One of the genes (APC) was also found to be altered by point mutation in the germ line of FAP and GS patients. These data suggest that more than one gene on chromosome 5q2l may contribute to colorectal neoplasia, and that mutations of the APC gene can cause both FAP and GS. The identification of these genes should aid in understanding the pathogenesis of colorectal neoplasia and in the diagnosis and counseling of patients with inherited predispositions to colorectal cancer.