然而,近几年来的证据表明,携带不同MMR基因突变的林奇综合征患者的癌症风险存在显著差异。前瞻性林奇综合征数据库(Prospective Lynch Syndrome Database,PLSD)和国际错配修复联合会(International Mismatch Repair Consortium)这两项林奇综合...
Introduction: Lynch syndrome (LS) is an inherited cancer predisposition syndrome characterized by a high risk of colorectal and extracolonic tumors. Germline pathogenic variants (GPV) in the PMS2 gene are associated with <15% of all cases. The PMS2CL pseudogene presents ...
Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome.包装清单: 产品编号 产品名称 包装 L29730 pLenti-PMS2-sgRNA 5µg — 说明书 1份 保存条件:-20℃保存,至少两年有效。
Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome. 基因名: PMS2 别名: HNPCC4,MLH4,PMS2CL,PMSL2 基因ID: 5395 Chromosome:(GRCh37) 7 Start: 6012870 End: 6048756 Strand: -1 信号通路: 基因组不...
is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome...
is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome...
Lynch syndrome is a common hereditary cancer predisposition syndrome caused by heterozygous MMR defects that is most often characterized by early onset colorectal cancers and many other types of cancer. Another, rarer, cancer predisposition syndrome, BMMR-D is caused by homozygous MMR defects and ...
DISEASE CHARACTERISTICS 1.1 Name of the disease (synonyms) HNPCC/Lynch syndrome. 1.2 OMIM# of the disease 120435. 1.3 Name of the analysed genes or DNA/chromosome segments MLH1, MSH2, MSH6, and PMS2. 1.4 OMIM# of the gene(s) MLH1 (NM_000248, U07418), MSH2 (NM_000251, U03911), ...
There is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot ...
is a DQHA(X)2E(X)4E motif found at the C-terminus of the protein encoded by this gene that forms part of the active site of the nuclease. Mutations in this gene have been associated with hereditary nonpolyposis colorectal cancer (HNPCC; also known as Lynch syndrome) and Turcot syndrome...