MSH2
别名：HMSH2;FE11;G219-1129
概述：
与MLH1相似，为DNA错配修复基因，正常结肠黏膜细胞核阳性，突变后表达丢失。hMSH2与hMSH6组成的复合体主要识别单个碱基的错配突变和短缺失或插入突变；hMSH3组成的复合体主要识别长片段的插入或缺失突变。
信号定位：胞核
在病理学中的应用：
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。
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MSH2 and disease
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Lynch syndrome, hereditary non-polyposis colon cancer (HNPCC)
- Autosomal dominant
- Early age of onset
- Familial predisposition
- Colorectal carcinoma, gynecological and urological malignancies
- Molecular definition is based on germline mutation in one of the 4 major genes forming MMR system, 40% is caused by MSH2
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Diagnosis by
- Amsterdam criteria (Gastroenterology 1999;116:1453)
- Bethesda Guidelines / US National Cancer Institute (J Natl Cancer Inst 1997;89:1758)
- Revised Bethesda Guidelines (J Natl Cancer Inst 2004;96:261)
- Jerusalem criteria, recommending that either MMR IHC or MSI testing be carried out on every colorectal tumor if the patient is <70 years at diagnosis (Gastroenterology 2010;138:2197)
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Muir-Torre syndrome
- Autosomal dominant
- Sebaceous neoplasms and visceral malignancies
- Mainly caused by MSH2 mutation
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MMR defect and sporadic colorectal cancer
- 10 and 15% of sporadic colon cancers; this MSI phenotype is associated with proximal primary tumor location, high grade, mucinous pathology, early stage, females, smoking and older age at onset
- Most are thought to arise from sessile serrated adenomas or polyps
- The majority are caused by MLH1 methylation and inactivation
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公司 |
克隆号 |
即用型（ml） |
原液（ml） |
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基因科技 |
25D12 |
/ |
2 |
4 |
7 |
/ |
0.2 |
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赛诺特 |
G219-1129 |
1 |
3 |
6 |
/ |
0.1 |
0.2 |
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中杉金桥 |
RED2 |
1.5 |
3 |
6 |
/ |
0.1 |
0.2 |
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安必平 |
G219-1129 |
1.5 |
3 |
6 |
/ |
0.1 |
0.2 |
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福建迈新 |
25D12 |
1.5 |
3 |
6 |
/ |
/ |
0.2 |
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百凌生物 |
BPM6143 |
1.5 |
/ |
/ |
7 |
0.1 |
1.0 |
在肿瘤中的表达情况：
鼻窦腺癌，肠型、透明细胞肾细胞癌、十二指肠腺瘤，非壶腹部、壶腹腺癌，胰胆管型、皮脂腺上皮瘤、梭形和上皮样细胞痣、恶性黑色素瘤、壶腹腺癌，肠型、壶腹腺瘤、锯齿状腺瘤、子宫内膜浆液性癌、壶腹癌、卵巢透明细胞癌、胃腺癌、胰腺导管腺癌
小肠腺癌、结直肠腺癌，家族息肉病相关、子宫内膜透明细胞癌、子宫内膜腺癌、腺泡状软组织肉瘤、结直肠淋巴上皮瘤样癌、子宫癌肉瘤、结直肠腺癌
恶性混合性苗勒管肿瘤，上皮成分、皮脂腺腺癌、恶性混合性苗勒管肿瘤，间质成分
皮脂腺腺瘤
结直肠黏液性腺癌
食管未分化癌
