医学
MSH6型
林奇综合征
MLH1
MSH2
癌症
PMS2系统
内科学
入射(几何)
肿瘤科
妇科
子宫内膜癌
结直肠癌
DNA错配修复
光学
物理
作者
Neil Ryan,Tristan Snowsill,EJ McKenzie,Kevin Monahan,Denise Nebgen
摘要
### What you need to know
Guidelines published in 2020 by the National Institute for Health and Care Excellence (NICE) recommend testing for Lynch syndrome in women with endometrial cancer at the time of diagnosis.1 Lynch syndrome is an inherited autosomal dominant condition. It is associated with an increased risk of colorectal, endometrial, and ovarian cancers. It is caused by harmful mutations in the DNA mismatch repair genes MLH1 , MSH2 (EPCAM) , MSH6 , or PMS2 .2 One in 440 individuals has Lynch syndrome according to US data, and one in 278 individuals based on a study from Denmark.2 The lifetime risk of someone with Lynch syndrome developing any cancer is estimated to be greater than 60% (unless caused by a PMS2 mutation), according to data from the Prospective Lynch Syndrome database (http://www.plsd.eu). For a woman with Lynch syndrome, the lifetime risk of endometrial or ovarian cancer is 40-60% and 10-17%, respectively, the incidence increasing with age beyond 40 years.2
### Data sources and selection strategy
We searched CENTRAL, Medline, Embase, and the Cochrane Database of Systematic Reviews for articles in English from the database inception to February 2021. Our search yielded 974 records. After removal of duplicates, 719 were available to screen. Screening was done by two independent reviewers using the Rayyan platform (https://www.rayyan.ai). Of …
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