林奇综合征
医学
免疫组织化学
种系突变
结直肠癌
DNA错配修复
微卫星不稳定性
内科学
肿瘤科
病理
癌症
突变
基因
遗传学
等位基因
生物
微卫星
作者
M J Markow,Wei Chen,Wendy L. Frankel
标识
DOI:10.1016/j.path.2017.07.012
摘要
At least 15% of colorectal cancers diagnosed in the United States are deficient in mismatch repair mechanisms. Most of these are sporadic, but approximately 3% of colorectal cancers result from germline alterations in mismatch repair genes and represent Lynch syndrome. It is critical to identify patients with Lynch syndrome to institute appropriate screening and surveillance for patients and their families. Exclusion of Lynch syndrome in sporadic cases is equally important because it reduces anxiety for patients and prevents excessive spending on unnecessary surveillance. Immunohistochemistry is one of the most widely used screening tools for identifying patients with Lynch syndrome.
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