中国科学院机构知识库网格
Chinese Academy of Sciences Institutional Repositories Grid
首页 机构 成果 学者
  
  1. CAS IR Grid
  2. 合肥物质科学研究院
  3. 中国科学院合肥物质科学研究院
Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer

文献类型：期刊论文

作者Xiao, Binyi3,4,5; Luo, Jun1,2,8; Xie, E.7; Kong, Lingheng3,4,5; Tang, Jinghua3,4,5; Liu, Dingxin3,4,5; Mao, Linlin6; Sui, Qiaoqi3,4,5; Li, Weirong3,4,5; Hong, Zhigang3,4,5
刊名EUROPEAN JOURNAL OF HUMAN GENETICS
出版日期2020-07-13
ISSN号1018-4813
DOI10.1038/s41431-020-0687-8
通讯作者Pan, Zhizhong(panzhzh@sysucc.org.cn) ; Jiang, Wu(jiangwu@sysucc.org.cn) ; Ding, Pei-Rong(dingpr@sysucc.org.cn)
英文摘要BRAFandMLH1promoter methylation testings have been proven effective prescreens for Lynch Syndrome. We aimed to compare different screening strategies for Lynch Syndrome in patients with MLH1(-) CRC. Patients with MLH1(-) CRC who had been tested forBRAFmutation and germline variants of DNA mismatch repair genes were included. We compared the sensitivities and specificities for identifying Lynch Syndrome and the cost-effectiveness of four screening approaches that used the following tests as prescreens:BRAFtesting,MLH1methylation testing,MLH1methylation &BRAFtesting, andMLH1methylation testing & Revised Bethesda Criteria. Of 109 patients included, 23 (21.1%) were Lynch Syndrome patients.BRAFmutation andMLH1methylation occurred in 6 (5.5%) and 40 (36.7%) patients, respectively. The sensitivity for identifying Lynch syndrome ofBRAFtesting was 100%, but the specificity was only 7%.MLH1methylation testing had a lower sensitivity thanBRAFtesting (97.5% vs 100%), but had a markedly higher specificity (45.3% vs 7%). The combination of the two testings had a slightly higher specificity thanMLH1methylation testing alone (47.7% vs 45.3%). TheMLH1methylation testing approach had a 10% lower cost of identifying MLH1(-) Lynch syndrome carriers per case than universal genetic testing, but it missed 4.5% of patients.BRAFandMLH1promoter methylation testings as prescreens for Lynch syndrome are less effective in Chinese patients with MLH1(-) CRC than in their Western counterparts. Universal genetic testing could be considered an up-front option for this population.
WOS关键词MLH1 METHYLATION ; BRAF ; MUTATIONS ; MANAGEMENT ; GUIDELINE ; SOCIETY
资助项目National Natural Science Foundation of China[81871971] ; Science and Technology Planning Project of Guangzhou City of China[201803010117] ; Science and Technology Program Project of Guangzhou[201802020030]
WOS研究方向Biochemistry & Molecular Biology ; Genetics & Heredity
语种英语
WOS记录号WOS:000548249800003
出版者NATURE PUBLISHING GROUP
资助机构National Natural Science Foundation of China ; Science and Technology Planning Project of Guangzhou City of China ; Science and Technology Program Project of Guangzhou
源URL[http://ir.hfcas.ac.cn:8080/handle/334002/102965]  
专题中国科学院合肥物质科学研究院
通讯作者Pan, Zhizhong; Jiang, Wu; Ding, Pei-Rong
作者单位1.Univ Chinese Acad Sci, Canc Hosp, Hangzhou, Zhejiang, Peoples R China
2.Chinese Acad Sci, Inst Canc & Basic Med ICBM, Hangzhou, Zhejiang, Peoples R China
3.Collaborat Innovat Ctr Canc Med, Guangzhou 510060, Peoples R China
4.State Key Lab Oncol South China, Guangzhou 510060, Peoples R China
5.Sun Yat Sen Univ, Canc Ctr, Guangzhou 510060, Peoples R China
6.Guangzhou Kingmed Diagnost Grp Co Ltd, Clin Genome Ctr, KingMed Ctr Clin Lab Co Ltd, Guangzhou, Peoples R China
7.Sun Yat Sen Univ, Affiliated Shantou Hosp, Dept Gen Surg, Guangzhou 515000, Guangdong, Peoples R China
8.Zhejiang Canc Hosp, Hangzhou, Zhejiang, Peoples R China
推荐引用方式
GB/T 7714		 Xiao, Binyi,Luo, Jun,Xie, E.,et al. Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer[J]. EUROPEAN JOURNAL OF HUMAN GENETICS,2020.
APA Xiao, Binyi.,Luo, Jun.,Xie, E..,Kong, Lingheng.,Tang, Jinghua.,...&Ding, Pei-Rong.(2020).Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer.EUROPEAN JOURNAL OF HUMAN GENETICS.
MLA Xiao, Binyi,et al."Comparisons of screening strategies for identifying Lynch syndrome among patients with MLH1-deficient colorectal cancer".EUROPEAN JOURNAL OF HUMAN GENETICS (2020).

入库方式： OAI收割

来源：合肥物质科学研究院

浏览0
下载0
收藏0
其他版本

除非特别说明，本系统中所有内容都受版权保护，并保留所有权利。