Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. Int J Cancer 103:636-41, 2003.Wang Y,Friedl W,Lamberti C,et al.Hereditary nonpolyposis colorectal cancer: frequent occurrence of large genomic deletions in MSH2 and MLH1 genes. ...
联合检测MLH1, MSH2, PMS2 和 MSH6 可用于Lynch syndrome(遗传性非息肉性结肠癌)的筛查。 MSH2 and disease Lynch syndrome, hereditary non-polyposis colon cancer (HNPCC) Autosomal dominant Early age of onset Familial predisposition Colorectal carcinoma, gynecological and urological malignancies ...
Variant human MLH1 and MSH2 genes are provided. Methods of using these variant genes to diagnose hereditary non-polyposis colorectal cancer (HNPCC) and/or determine a patient's susceptibility to developing HNPCC are also provided. Methods and compositions for identifying new variant MLH1 of MSH2 ...
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). Clin Genet 2006; 69: 40-47. 2. Kurzawski G, Safranow K, Suchy J, Chlubek D, Scott RJ, Lubiñski J. Mutation analysis of MLH1 and MSH2 genes performed by denaturing ...
学术范收录的Journal BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.,目前已有全文资源,进入学术范阅读全文,查看参考文献与引证文献,参与文献内容讨论。学术范是一个在线学术交流社区,收录论
To study the differential expression of hMLH1,hMSH2,hMSH6 and hPMS2 genes in colorectal polyps and colorectal cancer, it is possible for early accurate diagnosis and individualized therapy.KEY WORDS: Colorectal cancer; Colorectal polyp; Mismatch repair gene; Immunohistochemistry0 引言结直肠癌属于一种...
Further research is needed. To study the differential expression of hMLH1,hMSH2,hMSH6 and hPMS2 genes in colorectal polyps and colorectal cancer, it is possible for early accurate diagnosis and individualized therapy.KEY WORDS: Colorectal cancer; Colorectal polyp; Mismatch repair gene; Immunohistochem...
Moreover, BRAF mutations proved to be absent in tumors from hereditary nonpolyposis colorectal cancer syndrome (HNPCC) families with germline mutations in the MMR genes MLH1 and MSH2. These data suggest that the oncogenic activation of BRAF is involved only in sporadic colorectal tumorigenesis. In ...
Pediatric central nervous system (CNS) tumors can occur as first manifestations of cancer predisposition syndromes (CPS) resulting from pathogenic variants in DNA mismatch repair (MMR) genes MLH1, MSH2, MSH6, and PMS2. Early detection of MMR deficiencies (MMRD) may warrant the therapeutic use of...
Mutations of these genes have been found in sporadic colorectal tumors and, in the case of hPMS2, in HNPCC families and may account for an additional 5-10% of HNPCC cases (Parsons et al., Science 268:738-470 (1995)). The identification of hMSH2 and hMLH1 as genes in which ...