MSH2, mutS homolog 2, 4436

N. diseases: 490; N. variants: 777
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE The patient had intellectual disability and presented with a prostatic adenocarcinoma with an incidentally identified synchronous sigmoid adenocarcinoma that exhibited deficient MMR with an absence of MSH2 and MSH6 protein expression.Family history was unrevealing. 28555354 2018
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE The 6 MMRD small bowel adenocarcinomas had the following expression pattern: 3 with concurrent loss of MSH2 and MSH6, 1 with isolated loss of MSH6, and 2 with concurrent loss of MLH1 and PMS2 in patients with a family history suggestive of genetic cancer susceptibility. 27258561 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Overall, 8% (7/91) of adenocarcinomas with primary Gleason pattern 5 (Gleason score 9-10) had MSH2 loss compared with 0.4% (5/1,042) of tumors with any other scores (<i>P</i> < 0.05). 28790115 2017
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE MSH2 was reduced in 23.4% of NSCLC patients and was significantly associated with adenocarcinoma (P=0.024). 24185125 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE This retrospective study included 40 squamous cell carcinomas and 40 adenocarcinomas in various surgical TNM stages to define methylation profile and possible silencing of DNA repair genes - MLH1 and MSH2 - using Methylation-Specific PCR and protein expression by immunohistochemistry in tumoural tissue, preneoplastic lesions and respiratory epithelium with normal histological features. 24360395 2014
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE hMLH1 and hMSH2 mRNA expression was previously evaluated by qPCR for 29 NSCLC patients (13 with squamous cell carcinoma [SQC] and 16 with adenocarcinoma [ADC]) and MMR mRNA levels were converted into clinically distinct phenotypic entities. 22865300 2013
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE The incidence of poorly differentiated adenocarcinoma was 70.6% in HNPCC group among high frequency microsatellite instability (MSI-H), which was higher than the other two groups, which had 50% and 50% respectively. 16937450 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE The effect of the hMSH2 haplotypes on the risk of adenocarcinoma was statistically significant in the never smokers and younger individuals (adjusted OR, 0.45; 95% CI, 0.27-0.75; P = 0.002 and P(c) = 0.004; and adjusted OR, 0.44; 95% CI, 0.23-0.85; P = 0.014 and P(c) = 0.028, respectively) but not in the ever-smokers and older individuals. 16614121 2006
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE We therefore assessed the expression of the MMR proteins MLH1 and MSH2 in a series of 59 Barrett adenocarcinomas and found a loss of MMR protein immunostaining in 2/59 (3%) tumors; one tumor showed a loss of MSH2 expression, the other tumor showed a loss of MLH1, and both tumors displayed an MSI-high phenotype. 15676154 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Quantitative analysis of BRCA1, BRCA2 and Hmsh2 mRNA expression in colorectal Lieberkühnien adenocarcinomas and matched normal mucosa: relationship with cellular proliferation. 16158938 2005
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Sporadic colorectal cancers with defective mismatch repair display a number of specific morphological characteristics: relationship between the expression of hMLH1 and hMSH2 proteins and clinicopathological features of 273 adenocarcinomas. 12823711 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE The authors have assessed the frequency of MSI and analyzed the immunohistochemical expression of MLH1 and MSH2 in a population-based series of 89 adenocarcinomas of the small intestine. 12627520 2003
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE In this study, we evaluated by immunohistochemistry MLH1 and MSH2 protein expression in 132 MSI-H, 23 MSI-L (low-frequency MSI), and 150 microsatellite stable (MSS) colorectal adenocarcinomas. 12118112 2002
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group LHGDN Hereditary and somatic DNA mismatch repair gene mutations in sporadic endometrial carcinoma. 11474654 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 Biomarker group BEFREE Compared with MLH1- and MSH2-positive cases, MLH1- or MSH2-deficient colorectal adenocarcinomas were significantly associated on multivariate analysis with a younger age (38 vs. 43 years, P;0.0224), a larger tumour size (60 +/- 6 vs. 46 +/- 2 mm, P=0.0291), an expanding margin (85% vs. 51%, P=0.0159), a higher number of tumour-infiltrating lymphocytes assessed by CD3 immunostaining (202 +/- 48 vs. 33 +/- 4 CD3+ lymphocytes/10 high-power fields, P=0.0039), and a grade 2 Crohn's like lymphoid reaction (70% vs. 9%, P=0.0037). 11532035 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE Microsatellite instability and hMLH1/hMSH2 expression in Barrett esophagus-associated adenocarcinoma. 11301392 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 GeneticVariation group BEFREE We analyzed 100 sporadic and 3 hereditary pancreatic ductal adenocarcinomas for MSI, and high-frequency MSI (MSI-H) and low-frequency MSI (MSI-L) tumors were further analyzed for frameshift mutations of possible target genes and for promoter methylation and mutation of DNA MMR genes, including hMLH1, hMSH2, hMSH3, and hMSH6 genes. 11306499 2001
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.100 AlteredExpression group BEFREE MSI and general loss of MSH2 protein expression could be seen in the colorectal tumor but not in the adrenocortical adenocarcinoma. 11150379 2000