large intestine cancer(大肠癌)

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检测编号:SS0690230


服务项目

境象生物为您提供MLH1基因的突变检测服务。

样本要求

新鲜或石蜡包埋的病理组织样本(≥100mg组织)

服务周期

合同签订后30个工作日。

报告结果

服务报告包含检测基因、检出位点、基因型、是否发生突变、突变等位基因频率等结果。

检测方法

测序法

基因信息

基因名称基因全名基因位置外显子个数 CDS长度
MLH1 mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) 3p21.3 20 约2607 bp
基因摘要 This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). It is a human homolog of the E. coli DNA mismatch repair gene mutL, consistent with the characteristic alterations in microsatellite sequences (RER+phenotype) found in HNPCC. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described, but their full-length natures have not been determined.[provided by RefSeq, Nov 2009].

相关文献

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  2. Giannakis M et al, RNF43 is frequently mutated in colorectal and endometrial cancers., Nature genetics;46(12):1264-6, 2014, PubMed Link
  3. Lee SY et al, Comparative genomic analysis of primary and synchronous metastatic colorectal cancers., PloS one;9(3):e90459, 2014, PubMed Link
  4. Li M et al, Whole-exome and targeted gene sequencing of gallbladder carcinoma identifies recurrent mutations in the ErbB pathway., Nature genetics;46(8):872-6, 2014, PubMed Link
  5. Mouradov D et al, Colorectal cancer cell lines are representative models of the main molecular subtypes of primary cancer., Cancer research;74(12):3238-47, 2014, PubMed Link