Lynch Syndrome
Lynch Syndrome
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DOI：
10.1097/grf.0b013e3182185a41
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发表时间：
2011-06-01
影响因子：
1.5
通讯作者：
Cohn, David E.
中科院分区：
文献类型：
--
作者：
Backes, Floor J.;Cohn, David E.
大约 100 年前，奥尔德雷德·沃辛 (Aldred Warthin) 博士发现了林奇综合症。最初，该综合征被命名为遗传性非息肉病性结直肠癌，因为结直肠癌似乎最为普遍。随着时间的推移，子宫癌和其他几种恶性肿瘤被认为是该谱系的一部分。这种常染色体显性遗传性癌症综合征的特点是错配修复基因缺陷，使患者患结直肠癌和子宫癌的风险显着增加。林奇综合征的识别和诊断极其重要，以便可以启动适当的筛查计划和/或降低风险的手术来预防癌症的发展或促进癌症的早期发现。
Almost 100 years ago Lynch syndrome was discovered by Dr Aldred Warthin. Initially, the syndrome was named Hereditary Nonpolyposis Colorectal Cancer as colorectal cancer seemed most prevalent. Over time uterine cancer and several other malignancies were recognized as part of the spectrum. This autosomal-dominant inherited cancer syndrome is characterized by a defect in mismatch repair genes and puts patients at a significantly increased risk for colorectal and uterine cancer. Recognition and diagnosis of Lynch syndrome is extremely important so that appropriate screening programs and/or risk-reducing surgery can be initiated to prevent development or promote early detection of cancers.