FAMILIAL ADENOMATOUS POLYPOSIS - MUTATION AT CODON-1309 AND EARLY-ONSET OF COLON-CANCER
FAMILIAL ADENOMATOUS POLYPOSIS - MUTATION AT CODON-1309 AND EARLY-ONSET OF COLON-CANCER
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DOI：
10.1016/s0140-6736(94)92634-4
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发表时间：
1994-03-12
期刊：
影响因子：
168.9
通讯作者：
PROPPING, P
中科院分区：
文献类型：
--
作者：
CASPARI, R;FRIEDL, W;PROPPING, P
家族性腺瘤性息肉病（FAP）的临床病程在患者之间差异很大。预测疾病的严重程度是重要的，在利益的有效cancerprevention.We检查是否年龄诊断FAP由于胃肠道症状和死亡的年龄由于结直肠癌相关的基因突变位点。对225个FAP家系进行突变筛查。在20个家系中发现了外显子15内第1309位密码子的5个碱基对缺失（已知是最常见的突变）;在49个家系中发现了外显子7-15内的其他突变。在1309位密码子5个碱基对缺失的患者中，胃肠道症状和结直肠癌死亡的发生比其他突变的患者早10年左右，1309位突变导致结肠息肉的发生年龄更小，从而导致更早的恶性转化。在FAP患者预防癌症的策略中应考虑到这种关系。
The clinical course of familial adenomatous polyposis (FAP) varies considerably between patients. Prediction of the severity of the disease is important in the interest of effective cancer prevention.We examined whether age at diagnosis of FAP due to gastrointestinal symptoms and age at death due to colorectal cancer are related to the site of mutation in the responsible gene. 225 families with FAP were screened for mutations. The deletion of 5 base pairs at codon 1309 within exon 15 (known to be the most common mutation) was identified in 20 families; other mutations within exons 7-15 were found in 49 families. In patients with the 5 base-pair deletion at codon 1309, gastrointestinal symptoms and death from colorectal cancer occurred about 10 years earlier than in patients with other mutations.The 1309 mutation leads to development of colonic polyps at a younger age, thus giving rise to an earlier malignant tranformation. This relationship should be taken into account in strategies for preventing cancer in patients with FAP.