该基因座在遗传性非息肉性结肠癌(HNPCC)中经常发生突变。克隆时,发现它是大肠杆菌错配修复基因muts的人类同源物,与在hnpcc中发现的微卫星序列(rer+表型)的特征性变化一致。两个编码不同亚型的转录变体已经被发现。
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 transcript variants encoding different isoforms have been found for this gene.

基因名:MSH2
别名:COCA1,FCC1,HNPCC,HNPCC1,LCFS2
基因ID:4436
Chromosome:
(GRCh37)
2 Start: 47630108 End: 47789450 Strand: 1
药物: MEDI0680 MEDI4736 
MSH2 基因突变与药物
MSH2 基因突变 V273FS
Allele Registry ID:_:CA别名:
ClinVar ID:


基因突变位点
Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
24764143347641433T
Transcript
ENST00000233146.2
基因序列
ENST00000233146.2:c.818delT
NC_000002.11:g.47641433del
MSH2 基因突变 V273FS 临床根据
EID 证据 疾病 药物 等级 类型 趋势 临床意义 原因 评级
1826
在一例微卫星不稳定结直肠癌中发现的这种变异,被证实是疑似Lynch综合征(LS)患者的体细胞突变。因此,患者的LS为阴性。然而,根据这项研究,我们可以推断,变异将倾向于LS在种系设置。WT等位基因的杂合性缺失被证实。
This variant, identified in a case of microsatellite-unstable colorectal cancer, was confirmed to be a somatic mutation in a patient with suspected Lynch Syndrome (LS). The patient was therefore negative for LS. However, based on this study we can infer that the variant would predispose to LS in a germline setting. LOH of the WT allele was demonstrated.
林奇综合征 
林奇综合征 
E
易感
支持
未知
体细胞突变
2
↑ 选择上方MSH2 基因突变 V273FS 临床根据查看其详细信息。