LOCALIZATION OF THE GENE FOR FAMILIAL ADENOMATOUS POLYPOSIS ON CHROMOSOME-5
LOCALIZATION OF THE GENE FOR FAMILIAL ADENOMATOUS POLYPOSIS ON CHROMOSOME-5
复制标题
DOI：
10.1038/328614a0
复制
发表时间：
1987-08-13
期刊：
影响因子：
64.8
通讯作者：
SPURR, NK
中科院分区：
文献类型：
--
作者：
BODMER, WF;BAILEY, CJ;SPURR, NK
结直肠癌是英国和西方其他发达国家的第二大常见癌症。虽然它通常不是家族性的，但有一种罕见的显性遗传的结肠癌易感性，家族性腺瘤性息肉病（FAP;以前也常被称为家族性结肠息肉病）。在青春期，受影响的个体在大肠中发展几百到一千多个腺瘤性息肉。这些都很可能引起腺癌，使预防性切除结肠通常在诊断FAP个人。腺瘤可能发生在胃肠道的其他部位，并且这种情况通常与其他结肠外病变有关，例如表皮样囊肿，颌骨骨瘤和纤维性硬纤维瘤1 -4。腺瘤被认为是大多数结直肠肿瘤的癌前状态5，6。Knudson 7提出，显性遗传癌症易感性的突变可能是肿瘤细胞隐性变化的第一步，并且同一基因可能涉及给定肿瘤的家族性和非家族性病例。在一个患有多个发育异常和FAP 8的智力迟钝个体中，我们追踪了一个5号染色体间质缺失的病例报告，现在我们已经证明FAP基因位于5号染色体上，最可能靠近5 q21-q22带。
Colorectal cancer is the second most common cancer in the United Kingdom and other developed countries in the West. Although it is usually not familial, there is a rare dominantly inherited susceptibility to colon cancer, familial adenomatous polyposis (FAP; also often previously called familial polyposis coli). During adolescence affected individuals develop from a few hundred to over a thousand adenomatous polyps in their large bowel. These are sufficiently likely to give rise to adenocarcinomas to make prophylactic removal of the colon usual in diagnosed FAP individuals. Adenomas may occur elsewhere in the gastrointestinal tract and the condition is often associated with other extracolonic lesions, such as epidermoid cysts, jaw osteomata and fibrous desmoid tumours1–4. Adenomata have been suggested to be precancerous states for most colorectal tumours5,6. Knudson7has suggested that the mutation for a dominantly inherited cancer susceptibility may be the first step in a recessive change in the tumour cells, and that the same gene may be involved in both familial and non-familial cases of a given tumour. Following up a case report of an interstitial deletion of chromosome 5 in a mentally retarded individual with multiple developmental abnormalities and FAP8, we have now shown that the FAP gene is on chromosome 5, most probably near bands 5q21–q22.