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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE In an analysis of data from almost 4000 carriers of Lynch syndrome-associated mutations, we found history of gastric cancer to be independently associated with male sex, older age, mutations in MLH1 or MSH2, and with having a first-degree relative with gastric cancer. 31319185 2020
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE We detected the epidermal growth factor receptor L858R, MSH2 R929* and telomerase reverse transcriptase amplification in the lung cancer specimen; CDH1 c.1320+1G>T mutation in the gastric cancer (GC) specimen; and MLH1 c.1896+5G>A germline mutation in the lung and GC specimens by 450 cancer-related gene mutations detection using next-generation sequencing technology. 31207149 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE One hundred and sixty-five GCs were classified into five subgroups using immunohistochemistry (IHC) and in situ hybridization (ISH) methods, based on a panel of seven markers (MLH1, PMS2, MSH2, MSH6, E-cadherin, P53, and Epstein-Barr virus mRNA). 31372044 2019
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE The IVS10+12G>A and IVS12-6T>C polymorphisms in MSH2 gene appear to be associated with risk of GC in this Chinese population. 22386861 2012
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Hereditary non-polyposis colorectal cancer is the most common known genetic syndrome that predisposes to various types of cancer including gastric cancer and occures mainly due to pathogenic germline mutations in DNA mismatch repair (MMR) genes, such as MLH1, MSH2 and MSH6. 21136174 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE We verified that the frequency of MSI was similar in familial and sporadic GC settings, demonstrating that this molecular phenotype is not a hallmark of familial GC in contrast to what is verified in HNPCC. 20533283 2011
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE None of the 378 MSH6 carriers developed gastric cancer (P = .002 vs MLH1 and MSH2 combined lifetime risk). 19900449 2010
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Families with clinical diagnosis of HNPCC (i.e. family history which fulfills the Amsterdam I/II criteria) was the strongest predictor for finding a deleterious mutation, and stomach cancer was the most commonly reported extra-colonic cancer in families found with a deleterious MLH1 or MSH2 mutation. 18726168 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE Microsatellite instability (MSI) is thought to be an important molecular phenotype both in sporadic GC and in tumors of the HNPCC spectrum. 19152022 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 Biomarker disease BEFREE In addition, MSH2 1168T showed trends toward association with CRC and GC in young (<50 yr) sporadic disease patients (OR = 10.97 and 17.15, respectively). 17011982 2006
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 AlteredExpression disease BEFREE There was a positive relationship between the expression of hMSH2 mRNA and the differentiated types of gastric cancer. 12632492 2003
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE We screened germline mutations of mismatch repair genes hMLH1 and hMSH2 in a patient with multiple primary neoplasms (multiple stomach cancers, colon cancer and brain tumor) in a cancer clustered HNPCC family. 12110639 2002
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE Four disease groups and their healthy family members were assembled according to the presentation of gastric cancer: FG, familial clustering of gastric cancer (n = 32); CG, family with one or more colorectal and gastric cancers in first-degree relatives (n = 22); HS, seven HNPCC families corresponding to the Amsterdam criteria (AMS+) and 12 suspected HNPCC families which did not satisfy one of the criteria (AMS-), but no gastric cancer among first- and second-degree relatives (n = 19); and SG, sporadic gastric cancer (n = 33). 12132870 2001
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 AlteredExpression disease BEFREE To assess the role of mismatch repair in the development of MSI in gastric cancer, expression of hMSH2 and hMLH1 was explored. 10393852 1999
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease BEFREE RER and a deletion mutation of BAT26 in MSH2 were present in one (1/23; 4%) gastric cancer. 9824204 1998
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
0.400 GeneticVariation disease UNIPROT