Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer
Microsatellite instability in adenomas as a marker for hereditary nonpolyposis colorectal cancer
复制标题
DOI：
10.1016/s0002-9440(10)65503-4
复制
发表时间：
1999-12-01
影响因子：
6
通讯作者：
Aaltonen, LA
中科院分区：
文献类型：
--
作者：
Loukola, A;Salovaara, R;Aaltonen, LA
遗传性非息肉病性结直肠癌(HNPCC)是最常见的明确定义的结直肠癌综合征，至少占结直肠癌总负担的2%，并携带超过80%的终生癌症风险。通过对错配修复(MMR)基因突变的HNPCC患者进行适当的临床癌症筛查，可以显著降低癌症发病率和死亡率。因此，识别突变阳性个体是可取的。在癌症患者中，通过对其癌症表现为微卫星不稳定性(MSI)的个体进行胚系突变分析，可以相对有效地完成突变检测。这项研究旨在评估以同样的方式筛查结直肠腺瘤患者HNPCC的可行性。在378例腺瘤患者中，6例(1.6%)至少有一个MSI腺瘤。6名患者中有5名(83%)有生殖系MMR基因突变。我们认为MSI分析是对结直肠腺瘤患者进行HNPCC筛查的一种有用的方法。
Hereditary nonpolyposis colorectal cancer (HNPCC) is the most common of the well-defined colorectal cancer syndromes, accounting for at least 2% of the total colorectal cancer burden and carrying a greater than 80% lifetime risk of cancer. Significant reduction in cancer morbidity and mortality can be accomplished by appropriate clinical cancer screening of HNPCC patients with mutations in mismatch repair (MMR) genes. Thus, it is desirable to identify individuals who are mutation-positive. In individuals with cancer, mutation detection can be accomplished relatively efficiently by germline mutation analysis of individuals whose cancers show microsatellite instability (MSI). This study was designed to assess the feasibility of screening colorectal adenoma patients for HNPCC in the same manner. Among 378 adenoma patients, six (1.6%) had at least one MSI adenoma. Five out of the six patients (83%) had a germline MMR gene mutation. We conclude that MSI analysis is a useful method of prescreening colorectal adenoma patients for HNPCC.