There is a second type of screening test for Lynch syndrome that uses a technique called immunohistochemistry (IHC). IHC testing is a screening test done on the tumor that looks for the expression of Lynch syndrome gene products (proteins). If one or more of the proteins are missing in the...
If one of these proteins was not detectable in the tumor mutation analysis of the corresponding gene was carried out. Results We identified 6 frameshift mutations (2 in MLH1, 3 in MSH2, 1 in MSH6) resulting in a premature stop: two mutations in MLH1 (c.2198_2199insAACA [p.N733fsX745...
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook AcronymDefinition HNPCCHereditary non-polyposis colon cancer HNPCCHereditary Non-polyposis Colon Cancer Syndrome(genetics) HNPCCHereditary Non-Polypotic Colorectal Cancer ...
基因名:MLH1 别名:COCA2,FCC2,HNPCC,HNPCC2,hMLH1 基因ID:4292 Chromosome: (GRCh37)3Start:37034823End:37107380Strand:1 信号通路:基因组不稳定遗传相关 靶向药: 化疗药:奥沙利铂
Background and ObjectivesHereditary nonpolyposis colorectal cancer (HNPCC) is an autosomal and dominantly inherited cancer predisposition caused by a constitutional defect in a mismatch repair (MMR) gene, with a disease penetrance that approaches 80-90%. 研究背景与目的 遗传性非息肉病性大肠癌(HNPCC)...
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcri...
Based on PolyPhen, we identified the possible mutation, proposed a model structure for the mutant proteins and compared this with the native protein in the 3-D modeled structure of the MSH2 and MSH6 gene. We further analyzed native and mutant modeled proteins for solvent accessibility and ...
(MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite ...
Lynch综合征(Lynch syndrome,LS)又称遗传性非息肉性结直肠癌(hereditary nonpolyposis colorectal carcinoma,HNPCC),是由DNA错配修复基因(mismatch repair gene,MMR)... 马学功,薛凤霞 - 中国医师协会妇产科医师大会 被引量: 0发表: 2015年 HNPCC家系筛查及HNPCC家系中hMLH1,hMSH2蛋白表达分析 目的:建立该HNPCC家系...
The Use of Gene Tests to Detect Hereditary Predisposition to Cancer: Economic Considerations An exploratory analysis was performed to determine which factors are most important in determining the cost-effectiveness of such a testing program. The base... Brown, M. L,Kessler, L. G - 《J Natl Ca...