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Identification of novel Lynch syndrome mutations in Chinese patients with endometriod endometrial cancer

cancer Biology & Medicine 2020年第2期17卷 458-467页

作者： Caixia Ren Yan Liu Yuxiang Wang Yan Tang Yawei Wei Congrong Liu Hongquan Zhang Key Laboratory of Carcinogenesis and Translational Research Ministry of Educationand State Key Laboratory of Natural and Biomimetic DrugsPeking University Health Science CenterBeijing 100191China Department of Human Anatomy Histology and EmbryologyPeking University Health Science CenterBeijing 100191China Department of Pathology Peking University Health Science CenterBeijing 100191China Department of Human Anatomy Basic Medical College of Hebei North UniversityZhangjiakou 075000China

Objective:Lynch syndrome(LS)predisposes patients to early onset endometrioid endometrial cancer(EEC).However,little is known about LS-related EEC in the Chinese *** aim of this study was to investigate the prevalence of LS and to identify the specific variants of LS in Chinese patients with ***:We applied universal immunohistochemistry screening to detect the expression of mismatch repair(MMR)proteins,which was followed by MLH1 methylation analysis to identify suspected LS cases,next-generation sequencing(NGS)to confirm LS,and microsatellite instability(MSI)analysis to verify ***:We collected 211 samples with ***-seven(27/211,12.8%)EEC cases had a loss of MMR protein *** MLH1 methylation analysis,16 EEC cases were suggested to be associated with ***,through NGS and MSI analysis,we determined that 10 EEC(10/209,4.78%)cases were associated with *** those cases,3 unreported mutations(1 frameshift and 2 nonsense)were identified.M SH6 c.597_597delC,found in 4 patients,is likely to be a founder mutation in ***:We demonstrated the feasibility of a process for LS screening in Chinese patients with EEC,by using universal immunohistochemistry screening followed by MLH1 methylation analysis and confirmation through NGS and MSI *** novel mutations identified in this study expand knowledge of LS.

关键词： DNA mismatch repair endometrial endometrioid cancer germline mutation Lynch syndrome next-generation sequencing

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