EuRBPDB

Note: to get the extension of tumor abbreviations.

Cancer Related Information
Basic Information

Cancer associated literatures

PID	Title	Article	Time	Author	Doi
12810667	MSH2-deficient human cells exhibit a defect in the accurate termination of homology-directed repair of DNA double-strand breaks.	Cancer Res	2003 Jun 15	Villemure JF	-
24323032	Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.	J Clin Oncol	2014 Jan 10	Buchanan DD	doi: 10.1200/JCO.2013.51.2129
21091774	Immunohistochemical expression of mismatch repair genes (hMSH2 and hMLH1) in hepatocellular carcinoma in Egypt.	APMIS	2010 Dec	Helal TE	doi: 10.1111/j.1600-0463.2010.02658.x
17275176	Co-repression of mismatch repair gene expression by hypoxia in cancer cells: role of the Myc/Max network.	Cancer Lett	2007 Jul 8	Bindra RS	-
22433851	Ectopically expressed human tumor biomarker MutS homologue 2 is a novel endogenous ligand that is recognized by human γ?? T cells to induce innate anti-tumor/virus immunity.	J Biol Chem	2012 May 11	Dai Y	doi: 10.1074/jbc.M111.327650
19635727	Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds.	J Med Genet	2010 Feb	Grindedal EM	doi: 10.1136/jmg.2009.068130
27261338	Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome database.	Gut	2017 Sep	Mller P	doi: 10.1136/gutjnl-2016-311403
12684691	Global DNA methylation in relation to hMLH1 and hMSH2 protein immunoreactivity in sporadic human endometrial carcinomas.	Int J Mol Med	2003 May	Miturski R	-
15886699	The DNA mismatch repair gene hMSH2 is a potent coactivator of oestrogen receptor alpha.	Br J Cancer	2005 Jun 20	Wada-Hiraike O	-
12549480	Early onset brain tumor and lymphoma in MSH2-deficient children.	Am J Hum Genet	2003 Jan	Bougeard G	-
14562278	Possible association between tumor-suppressor gene mutations and hMSH2/hMLH1 inactivation in alveolar soft part sarcoma.	Hum Pathol	2003 Sep	Saito T	-
19390556	Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation.	Nat Rev Clin Oncol	2009 May	Jeans AF	doi: 10.1038/nrclinonc.2009.35.
21029181	Expression of DNA repair proteins, MSH2, MLH1 and MGMT in mobile tongue squamous cell carcinoma: associations with clinicopathological parameters and patients' survival.	J Oral Pathol Med	2011 Mar	Theocharis S	doi: 10.1111/j.1600-0714.2010.00945.x
25503122	Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma.	Anticancer Res	2014 Dec	Jentzsch T	-
21358597	Expression of DNA repair proteins MSH2, MLH1 and MGMT in human benign and malignant thyroid lesions: an immunohistochemical study.	Med Sci Monit	2011 Feb 25	Giaginis C	-
26077460	Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions.	J Dermatol	2015 Nov	Hatta N	doi: 10.1111/1346-8138.12949
18331286	Immunoexpression of hMSH2 and hMLH1 in oral squamous cell carcinoma and its relationship to histological grades of malignancy.	J Oral Pathol Med	2008 Oct	Fernandes AM	doi: 10.1111/j.1600-0714.2008.00658.x
19464205	Expression of hMLH1 and hMSH2 proteins in pleomorphic adenoma of minor salivary glands: relationship with clinical and histologic findings.	Oral Surg Oral Med Oral Pathol Oral Radiol Endod	2009 Aug	Tob??n-Arroyave SI	doi: 10.1016/j.tripleo.2009.02.033
22883484	Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer.	Eur Urol	2013 Feb	Skeldon SC	doi: 10.1016/j.eururo.2012.07.047
15467433	Mismatch repair gene expression and genetic instability in testicular germ cell tumor.	Cancer Biol Ther	2004 Oct	Velasco A	-
22614019	The Grainyhead transcription factor Grhl3/Get1 suppresses miR-21 expression and tumorigenesis in skin: modulation of the miR-21 target MSH2 by RNA-binding protein DND1.	Oncogene	2013 Mar 21	Bhandari A	doi: 10.1038/onc.2012.168
28004223	Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.	Fam Cancer	2017 Jul	Mork ME	doi: 10.1007/s10689-016-9960-y.
29342268	Reduced Expression of Mismatch Repair Genes MSH6/MSH2 Directly Promotes Pituitary Tumor Growth via the ATR-Chk1 Pathway.	J Clin Endocrinol Metab	2018 Mar 1	Uraki S	doi: 10.1210/jc.2017-02332.
28790115	MSH2 Loss in Primary Prostate Cancer.	Clin Cancer Res	2017 Nov 15	Guedes LB	doi: 10.1158/1078-0432.CCR-17-0955
27466510	DNA Repair Gene Expression Levels as Indicators of Breast Cancer in the Breast Cancer Family Registry.	Anticancer Res	2016 Aug	Kappil MA	-
17160686	Assessment of microsatellite instability in colorectal carcinoma at an Indian center.	Int J Colorectal Dis	2007 Jul	Pandey V	-
17922223	Is MSH2 a breast cancer susceptibility gene?	Fam Cancer	2008	Wong EM	-
17109103	The role of chemotherapy in microsatellite unstable (MSI-H) colorectal cancer.	Int J Colorectal Dis	2007 Jul	Warusavitarne J	-
23255516	Cancer risks for MLH1 and MSH2 mutation carriers.	Hum Mutat	2013 Mar	Dowty JG	doi: 10.1002/humu.22262.
21642682	Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.	JAMA	2011 Jun 8	Bonadona V	doi: 10.1001/jama.2011.743.
15855819	Defective DNA mismatch repair in long-term (> or =3 years) survivors with pancreatic cancer.	Pancreatology	2005	Maple JT	-
15735976	Expression of the hMLH1 and hMSH2 proteins in normal tissues: relationship to cancer predisposition in hereditary non-polyposis colon cancer.	Virchows Arch	2005 Feb	Plevov?? P	-
11782355	Mutational analysis of promoters of mismatch repair genes hMSH2 and hMLH1 in hereditary nonpolyposis colorectal cancer and early onset colorectal cancer patients: identification of three novel germ-line mutations in promoter of the hMSH2 gene.	Cancer Res	2002 Jan 1	Shin KH	-
19032668	Expression and promoter methylation status of mismatch repair gene hMLH1 and hMSH2 in epithelial ovarian cancer.	Aust N Z J Obstet Gynaecol	2008 Oct	Zhang H	doi: 10.1111/j.1479-828X.2008.00892.x.
28176205	Correlation between germline mutations in MMR genes and microsatellite instability in ovarian cancer specimens.	Fam Cancer	2017 Jul	Akbari MR	doi: 10.1007/s10689-017-9973-1.
28779004	Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry.	J Med Genet	2017 Nov	Goldberg M	doi: 10.1136/jmedgenet-2017-104542
24122742	Excess of extracolonic non-endometrial multiple primary cancers in MSH2 germline mutation carriers over MLH1.	J Surg Oncol	2013 Dec	Lin-Hurtubise KM	doi: 10.1002/jso.23413
18822302	Functional analysis of HNPCC-related missense mutations in MSH2.	Mutat Res	2008 Oct 14	L??tzen A	doi: 10.1016/j.mrfmmm.2008.08.015
22386861	Polymorphisms in MSH2 gene and risk of gastric cancer, and interactions with lifestyle factors in a Chinese population.	Cancer Epidemiol	2012 Jun	Wang D	doi: 10.1016/j.canep.2012.02.003
23434150	Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?	Eur J Cancer	2013 May	Win AK	doi: 10.1016/j.ejca.2013.01.029
26477961	Genomics of Hereditary Colorectal Cancer: Lessons Learnt from 25 Years of the Singapore Polyposis Registry.	Ann Acad Med Singapore	2015 Aug	Chew MH	-
25804231	Polymorphism of DNA mismatch repair genes in endometrial cancer.	Exp Oncol	2015 Mar	Poplawski T	-
17333219	A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer.	Int J Colorectal Dis	2007 Aug	Zheng D	-
12203789	A 10-Mb paracentric inversion of chromosome arm 2p inactivates MSH2 and is responsible for hereditary nonpolyposis colorectal cancer in a North-American kindred.	Genes Chromosomes Cancer	2002 Sep	Wagner A	-
15571801	Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer.	Cancer Genet Cytogenet	2004 Dec	Rey JM	-
16086322	The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.	Hum Mutat	2005 Sep	Charbonnier F	-
21047769	Context-dependent bidirectional regulation of the MutS homolog 2 by transforming growth factor β contributes to chemoresistance in breast cancer cells.	Mol Cancer Res	2010 Dec	Yu Y	doi: 10.1158/1541-7786.MCR-10-0362
19582509	Mitochondrial genomic instability in colorectal cancer: no correlation to nuclear microsatellite instability and allelic deletion of hMSH2, hMLH1, and p53 genes, but prediction of better survival for Dukes' stage C disease.	Ann Surg Oncol	2009 Oct	Tsai MH	doi: 10.1245/s10434-009-0581-7
19861671	Risk of pancreatic cancer in families with Lynch syndrome.	JAMA	2009 Oct 28	Kastrinos F	doi: 10.1001/jama.2009.1529.
16569647	Microsatellite instability and methylation of the DNA mismatch repair genes in head and neck cancer.	Ann Oncol	2006 Jun	Demokan S	-
18335504	The 10-Mb paracentric inversion of chromosome arm 2p in activating MSH2 and causing hereditary nonpolyposis colorectal cancer: re-annotation and mutational mechanisms.	Genes Chromosomes Cancer	2008 Jun	Chen JM	doi: 10.1002/gcc.20556.
16902769	Novel hMSH2, hMSH6 and hMLH1 gene mutations and microsatellite instability in sporadic colorectal cancer.	J Cancer Res Clin Oncol	2007 Jan	Chaksangchaichot P	-
16810763	Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families.	World J Gastroenterol	2006 Jul 7	Wang XL	-
16234028	Chromoendoscopic colonoscopy for detecting preneoplastic lesions in hereditary nonpolyposis colorectal cancer syndrome.	Clin Gastroenterol Hepatol	2005 Sep	Lecomte T	-
25255306	Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.	Nat Commun	2014 Sep 25	Pritchard CC	doi: 10.1038/ncomms5988.
19759184	IVS10+12A>G polymorphism in hMSH2 gene associated with prognosis for patients with colorectal cancer.	Ann Oncol	2010 Mar	Kim JG	doi: 10.1093/annonc/mdp338
12595050	A636P is associated with early-onset colon cancer in Ashkenazi Jews.	J Am Coll Surg	2003 Feb	Guillem JG	-
26544533	Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.	Pediatr Blood Cancer	2016 Mar	Baris HN	doi: 10.1002/pbc.25818
25560462	Intronic and promoter polymorphisms of hMLH1/hMSH2 and colorectal cancer risk in Heilongjiang Province of China.	J Cancer Res Clin Oncol	2015 Aug	Li G	doi: 10.1007/s00432-014-1898-6
18181177	Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in the MSH2 gene.	Genes Chromosomes Cancer	2008 Apr	Pineda M	doi: 10.1002/gcc.20536.
20438357	Analysis of the hMSH2 gene variants in head and neck cancer.	DNA Cell Biol	2010 Aug	Demokan S	doi: 10.1089/dna.2009.1013.
25640028	[Lynch syndrome and risk of prostate cancer; review of the literature].	Prog Urol	2015 Apr	Maillard F	doi: 10.1016/j.purol.2015.01.001
18543228	[Comparison of clinical and genetic phenotypes between Chinese and Korean hereditary nonpolyposis colorectal cancer families].	Zhonghua Yi Xue Yi Chuan Xue Za Zhi	2008 Jun	Shen H	-
18713544	Clinical features and hMSH2/hMLH1 germ-line mutations in Chinese patients with hereditary nonpolyposis colorectal cancer.	Chin Med J (Engl)	2008 Jul 20	Shen XS	-
24530475	Down-regulation of MSH2 expression by an Hsp90 inhibitor enhances pemetrexed-induced cytotoxicity in human non-small-cell lung cancer cells.	Exp Cell Res	2014 Apr 1	Tung CL	doi: 10.1016/j.yexcr.2014.02.002
17407090	[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].	Zhonghua Yi Xue Yi Chuan Xue Za Zhi	2007 Apr	Li TG	-
21660619	Clinical implications of mismatched repair gene promoter methylation in pancreatic cancer.	Med Oncol	2012 Jun	Li M	doi: 10.1007/s12032-011-9968-y
21559014	Body mass index in early adulthood and colorectal cancer risk for carriers and non-carriers of germline mutations in DNA mismatch repair genes.	Br J Cancer	2011 Jun 28	Win AK	doi: 10.1038/bjc.2011.172
12095971	hMLH1 and hMSH2 gene mutation in Brazilian families with suspected hereditary nonpolyposis colorectal cancer.	Ann Surg Oncol	2002 Jul	Rossi BM	-
19707776	Colorectal cancer in Iran: immunohistochemical profiles of four mismatch repair proteins.	Int J Colorectal Dis	2010 Jan	Molaei M	doi: 10.1007/s00384-009-0784-1
16341550	Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants.	Hum Genet	2006 Mar	Pagenstecher C	-
12792735	Oncogenic pathway of sporadic colorectal cancer with novel germline missense mutations in the hMSH2 gene.	Oncol Rep	2003 Jul-Aug	Yamada K	-
16500024	New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife.	Cancer Lett	2006 Dec 8	Medina-Arana V	-
23573243	Novel DNA variants and mutation frequencies of hMLH1 and hMSH2 genes in colorectal cancer in the Northeast China population.	PLoS One	2013	Hu F	doi: 10.1371/journal.pone.0060233
15216397	Microsatellite instability and hMLH1 and hMSH2 gene expression in Taiwanese hereditary nonpolyposis colorectal cancer.	J Formos Med Assoc	2004 May	Wei SC	-
22188021	Challenges in the diagnosis and management of Lynch Syndrome in an Indigenous family living in a remote West Australian community.	Rural Remote Health	2011	Schofield L	-
21156417	A new mutation in the hMSH2 gene in a Spanish Lynch syndrome family.	Clin Transl Oncol	2010 Dec	Z??rate R	doi: 10.1007/s12094-010-0596-3.
19100506	Three new nonsense mutations of MLH1 and MSH2 genes in Korean families with hereditary nonpolyposis colorectal cancer.	Cancer Genet Cytogenet	2009 Jan 15	Yoon S	doi: 10.1016/j.cancergencyto.2008.09.001.
18561205	A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.	Hum Mutat	2008 Dec	Tournier I	doi: 10.1002/humu.20796.
18202787	Overexpression of hMSH2 and hMLH1 protein in certain gastric cancers and their surrounding mucosae.	Oncol Rep	2008 Feb	Li M	-
24317816	Promoter methylation and immunohistochemical expression of hMLH1 and hMSH2 in sporadic colorectal cancer: a study from India.	Tumour Biol	2014 Apr	Malhotra P	doi: 10.1007/s13277-013-1487-3
20931542	[Association of IVS10+12G>A polymorphism in hMSH2 gene with colorectal cancer in Chinese].	Zhonghua Yi Xue Yi Chuan Xue Za Zhi	2010 Oct	Zhou JN	doi: 10.3760/cma.j.issn.1003-9406.2010.05.023.
18629513	Report of a family segregating mutations in both the APC and MSH2 genes: juvenile onset of colorectal cancer in a double heterozygote.	Int J Colorectal Dis	2008 Nov	Uhrhammer N	doi: 10.1007/s00384-008-0526-9
25490383	Down-regulation of MSH2 expression by Hsp90 inhibition enhances cytotoxicity affected by tamoxifen in human lung cancer cells.	Biochem Biophys Res Commun	2015 Jan 2	Ko JC	doi: 10.1016/j.bbrc.2014.11.116
16252083	Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression.	Breast Cancer Res Treat	2005 Dec	Poplawski T	-
15786548	Clinicopathological and molecular genetic analysis of HNPCC in China.	World J Gastroenterol	2005 Mar 21	Luo DC	-
27069191	Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome.	Anticancer Res	2016 Apr	Tanakaya K	-
15375803	Colorectal cancer prevention.	Curr Probl Cancer	2004 Sep-Oct	Kauh J	-
22581703	Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients.	Hum Mutat	2012 Aug	Kantelinen J	doi: 10.1002/humu.22119
15350299	Multiple epithelial and nonepithelial tumors in hereditary nonpolyposis colorectal cancer: characterization of germline and somatic mutations of the MSH2 gene and heterogeneity of replication error phenotypes.	Cancer Genet Cytogenet	2004 Sep	Huang RL	-
21988782	A meta-analysis of the prevalence of somatic mutations in the hMLH1 and hMSH2 genes in colorectal cancer.	Colorectal Dis	2012 Mar	Zhang R	doi: 10.1111/j.1463-1318.2011.02858.x.
20495877	Magnetic resonance colonography for colorectal cancer screening in patients with Lynch syndrome gene mutation.	Fam Cancer	2010 Dec	Lim EJ	doi: 10.1007/s10689-010-9350-9.
11857745	A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.	Hum Mutat	2002 Mar	Wang Y	-
18949393	Oncoprotein Bcl-2 and microsatellite instability are associated with disease-free survival and treatment response in colorectal cancer.	Oncol Rep	2008 Nov	Bendardaf R	-
22635031	Case-case study of factors associated to hMLH1, hMSH2, and hMSH6 protein expression among endometrial cancer patients of the University District Hospital of San Juan, Puerto Rico.	Int J Gynecol Cancer	2012 Jun	Gonz??lez L	doi: 10.1097/IGC.0b013e31825104de.
16106253	The role of MLH1, MSH2 and MSH6 in the development of multiple colorectal cancers.	Br J Cancer	2005 Aug 22	Lawes DA	-
21513149	[Association of mismatch repair gene polymorphism with susceptibility to sporadic colorectal cancer in Tianjin region].	Yi Chuan	2010 Dec	Li HC	-
15200905	[Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients].	Zhonghua Yi Xue Za Zhi	2004 May 2	Liu SR	-
22173703	Esophageal cancer risk is associated with polymorphisms of DNA repair genes MSH2 and WRN in Chinese population.	J Thorac Oncol	2012 Feb	Li T	doi: 10.1097/JTO.0b013e31823c487a.
23143558	Estradiol regulates miR-135b and mismatch repair gene expressions via estrogen receptor-β in colorectal cells.	Exp Mol Med	2012 Dec 31	He YQ	doi: 10.3858/emm.2012.44.12.079.
19418671	Colorectal cancer in South Africa: a heritable cause suspected in many young black patients.	S Afr Med J	2009 Feb	Cronj?? L	-
21093899	Endometrial cancer and genetic variation in PTEN, PIK3CA, AKT1, MLH1, and MSH2 within a population-based case-control study.	Gynecol Oncol	2011 Feb	Lacey JV Jr	doi: 10.1016/j.ygyno.2010.10.016
17582678	High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.	Cancer Lett	2007 Oct 8	Mart??nez-Bouzas C	-
24793746	The prognostic significance of polymorphisms in hMLH1/hMSH2 for colorectal cancer.	Med Oncol	2014 Jun	Wang Y	doi: 10.1007/s12032-014-0975-7
17987798	Microsatellite instability (MSI) and MLH1 and MSH2 protein expression analysis in postmenopausal women with sporadic endometrial cancer.	J Exp Clin Cancer Res	2007 Sep	Sobczuk A	-
16874859	Risk of colon cancer in hereditary non-polyposis colorectal cancer patients as predicted by fuzzy modeling: Influence of smoking.	World J Gastroenterol	2006 Jul 28	Brand RM	-
23329266	Splice site mutations in mismatch repair genes and risk of cancer in the general population.	Fam Cancer	2013 Sep	Thomsen M	doi: 10.1007/s10689-013-9601-7.
21122410	[Expression and significance of mismatch repair genes hMLH1 and hMSH2 in sporadic colorectal carcinoma].	Zhonghua Zhong Liu Za Zhi	2010 Aug	Zheng JY	-
15996210	Clinical and molecular characteristics of hereditary non-polyposis colorectal cancer families in Southeast Asia.	Clin Genet	2005 Aug	Lee SC	-
15063132	Novel germline hMSH2 genomic deletion and somatic hMSH2 mutations in a hereditary nonpolyposis colorectal cancer family.	Mutat Res	2004 Apr 14	Miyaki M	-
16684085	Immunohistochemistry detects mismatch repair gene defects in colorectal cancer.	Colorectal Dis	2006 Jun	Hameed F	-
25134804	Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the risk of triple-negative breast cancer in Polish women.	Fam Cancer	2015 Mar	Smolarz B	doi: 10.1007/s10689-014-9746-z.
15042510	MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population.	Am J Hum Genet	2004 May	Chan TL	-
12684669	Alterations in PMS2, MSH2 and MLH1 expression in human prostate cancer.	Int J Oncol	2003 May	Chen Y	-
25664706	Lymph node yield after colectomy for cancer: is absence of mismatch repair a factor?	Dis Colon Rectum	2015 Mar	Samdani T	doi: 10.1097/DCR.0000000000000262.
17569143	Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.	World J Gastroenterol	2007 May 21	Papp J	-
12454801	The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population.	Am J Hum Genet	2002 Dec	Foulkes WD	-
12808326	Characterization of mutator pathway in younger-age-onset colorectal adenocarcinomas.	J Korean Med Sci	2003 Jun	Roh SA	-
25561800	Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer.	World J Gastroenterol	2014 Dec 28	Yan ZH	doi: 10.3748/wjg.v20.i48.18338.
21766496	Microsatellite instability and promoter hypermethylation of MLH1 and MSH2 in patients with sporadic colorectal cancer.	J BUON	2011 Apr-Jun	Vlaykova T	-
20181625	Molecular profiling using tissue microarrays as a tool to identify predictive biomarkers in laryngeal cancer treated with radiotherapy.	Cancer Genomics Proteomics	2010 Jan-Feb	Holgersson G	-
21528083	SPARCL1, Shp2, MSH2, E-cadherin, p53, ADCY-2 and MAPK are prognosis-related in colorectal cancer.	World J Gastroenterol	2011 Apr 21	Yu SJ	doi: 10.3748/wjg.v17.i15.2028.
21128252	Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects.	Int J Cancer	2011 Oct 1	Duraturo F	doi: 10.1002/ijc.25824
22806311	miR-21 induces cell cycle at S phase and modulates cell proliferation by down-regulating hMSH2 in lung cancer.	J Cancer Res Clin Oncol	2012 Oct	Zhong Z	-
17228328	Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.	Eur J Hum Genet	2007 Mar	Baert-Desurmont S	-
26053027	Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome.	PLoS One	2015 Jun 8	Kamiza AB	doi: 10.1371/journal.pone.0130018
18265677	MSI is frequently recognized among gastric cancer patients with a family history of cancer.	Hepatogastroenterology	2007 Dec	Kanemitsu K	-
20872076	Hereditary prostate cancer as a feature of Lynch syndrome.	Fam Cancer	2011 Mar	Bauer CM	doi: 10.1007/s10689-010-9388-8.
16995940	In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon- and tissue-specific effects.	BMC Genomics	2006 Sep 22	Lastella P	-
19734583	[Clinicopathologic characteristics, diagnosis, and treatment of 30 patients with hereditary nonpolyposis colorectal cancer].	Zhong Nan Da Xue Xue Bao Yi Xue Ban	2009 Aug	Liu H	-
21732224	Gene expression of the mismatch repair gene MSH2 in primary colorectal cancer.	Tumour Biol	2011 Oct	Jensen LH	doi: 10.1007/s13277-011-0199-9
21926548	Pancreatic cancer and a novel MSH2 germline alteration.	Pancreas	2011 Oct	Lindor NM	doi: 10.1097/MPA.0b013e318220c217.
18547406	The association between genetic variants in hMLH1 and hMSH2 and the development of sporadic colorectal cancer in the Danish population.	BMC Med Genet	2008 Jun 11	Christensen LL	doi: 10.1186/1471-2350-9-52.
15782118	BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes.	Oncogene	2005 Jun 2	Domingo E	-
21419447	Upper urinary tract carcinoma in Lynch syndrome cases.	J Urol	2011 May	Crockett DG	doi: 10.1016/j.juro.2010.12.102
17011982	Variations in exon 7 of the MSH2 gene and susceptibility to gastrointestinal cancer in a Chinese population.	Cancer Genet Cytogenet	2006 Oct 15	Fan Y	-
15062061	[Clinical analysis and molecular genetic study of hereditary nonpolyposis colorectal cancer kindreds].	Zhonghua Wai Ke Za Zhi	2004 Feb 7	Luo DC	-
14499697	Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer.	Cancer Genet Cytogenet	2003 Oct 1	Banno K	-
15856462	Immune responses to DNA mismatch repair enzymes hMSH2 and hPMS1 in patients with pancreatic cancer, dermatomyositis and polymyositis.	Int J Cancer	2005 Oct 10	Okada T	-
20591884	Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers.	J Med Genet	2010 Jul	van der Post RS	doi: 10.1136/jmg.2010.076992.
19697156	Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients.	Fam Cancer	2009	Christensen LL	doi: 10.1007/s10689-009-9274-4
21419771	High risk of colorectal and endometrial cancer in Ashkenazi families with the MSH2 A636P founder mutation.	Gastroenterology	2011 Jun	Mukherjee B	doi: 10.1053/j.gastro.2011.02.071
12697969	Microsatellite instability is often observed in esophageal carcinoma patients with allelic loss in the FHIT/FRA3B locus.	Oncology	2003	Mimori K	-
21615986	Distinct mutations in MLH1 and MSH2 genes in hereditary non-polyposis colorectal cancer (HNPCC) families from China.	BMB Rep	2011 May	Wei W	doi: 10.5483/BMBRep.2011.44.5.317.
23301373	Status of mismatch repair genes hMSH2 and hMSH6 in colorectal cancer in Saudi patients: an immunohistochemical analysis.	East Mediterr Health J	2012 Nov	Alkhalidi H	-
20505253	Loss of hMSH2 gene expression correlates with improved survival in patients with sporadic colorectal cancer.	J Genet	2010 Apr	Langner E	-
12632492	Studies on microsatellite instability in p16 gene and expression of hMSH2 mRNA in human gastric cancer tissues.	World J Gastroenterol	2003 Mar	Zhang QX	-
19950599	[Expression and clinical significance of CDC6 and hMSH2 in cervical carcinoma].	Sichuan Da Xue Xue Bao Yi Xue Ban	2009 Sep	Wang WX	-
17566596	Polymorphism in the hMSH2 gene (gISV12-6T > C) is a prognostic factor in non-small cell lung cancer.	Lung Cancer	2007 Oct	Hsu HS	-
18581137	Reduced mRNA expression in paraffin-embedded tissue identifies MLH1- and MSH2-deficient colorectal tumours and potential mutation carriers.	Virchows Arch	2008 Jul	M??ller A	doi: 10.1007/s00428-008-0637-2
27013479	Frequent mismatch-repair defects link prostate cancer to Lynch syndrome.	BMC Urol	2016 Mar 24	Dominguez-Valentin M	doi: 10.1186/s12894-016-0130-1.
18406877	A novel missense MSH2 gene mutation in a patient of a Korean family with hereditary nonpolyposis colorectal cancer.	Cancer Genet Cytogenet	2008 Apr 15	Park SJ	doi: 10.1016/j.cancergencyto.2008.01.011.
21093954	Polymorphisms of MLH1 and MSH2 genes and the risk of lung cancer among never smokers.	Lung Cancer	2011 Jun	Lo YL	doi: 10.1016/j.lungcan.2010.10.009
25107687	MLH1 and MSH2 mutation screening in HNPCC families of Hungary - Two new MMR gene mutations.	Eur J Surg Oncol	2014 Nov	Tanyi M	doi: 10.1016/j.ejso.2014.07.032
18781619	MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.	Hum Mutat	2008 Nov	Belvederesi L	doi: 10.1002/humu.20875.
27468915	First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome.	Fam Cancer	2017 Jan	Ziada-Bouchaar H	doi: 10.1007/s10689-016-9917-1.
28411881	Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I-II colon cancer patients.	Biomed J	2017 Feb	Huang SC	doi: 10.1016/j.bj.2017.01.004
28093084	Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients.	Chin J Cancer	2017 Jan 16	Liu JY	doi: 10.1186/s40880-016-0175-2.
26975740	MSH2 rs2303425 Polymorphism is Associated with Early-Onset Breast Cancer in Taiwan.	Ann Surg Oncol	2017 Feb	Hsieh YC	doi: 10.1245/s10434-016-5168-5
28537674	Correlations of MC4R and MSH2 expression with obesity in colon cancer patients.	Eur Rev Med Pharmacol Sci	2017 May	Liu YZ	-
29025352	Risk of colorectal polyps and of malignancies in asymptomatic carriers of mutations in the main DNA mismatch repair genes.	Scand J Gastroenterol	2018 Jan	Ponz de Leon M	doi: 10.1080/00365521.2017.1386794
30486602	The Tendency of Having MSH2 and MSH6 Microsatellite Instability among Clinicopathological Features in Patients with Colorectal Cancer	Asian Pac J Cancer Prev	2018 Nov 29	Arshita N	-

Differential Expression

Expression in 33 cancers

Mutations

Cancer	Chr	Position	Mutation Type	dbSNP	Protein-change	Allele Freq
ACC	chr2	47414288	Missense_Mutation	rs139891783	S271F	0.48
BLCA	chr2	47478344	Silent	novel	G761G	0.1
BLCA	chr2	47445630	Missense_Mutation	novel	M453I	0.26
BLCA	chr2	47412483	Nonsense_Mutation	rs63750488	Q239*	0.12
BLCA	chr2	47482829	Silent	novel	P895P	0.29
BLCA	chr2	47476569	Splice_Region	novel	L736L	0.15
BLCA	chr2	47414308	Nonsense_Mutation	novel	E278*	0.57
BLCA	chr2	47466774	Missense_Mutation	NA	D543N	0.22
BLCA	chr2	47475081	Missense_Mutation	NA	V606F	0.87
BLCA	chr2	47408506	Missense_Mutation	novel	R106T	0.13
BLCA	chr2	47471057	Missense_Mutation	novel	S585F	0.12
BLCA	chr2	47476419	Silent	novel	V686V	0.47
BLCA	chr2	47414298	Missense_Mutation	rs781569442	I274M	0.22
BLCA	chr2	47476552	Missense_Mutation	novel	E731Q	0.61
BLCA	chr2	47478269	Splice_Region	novel		0.17
BLCA	chr2	47445644	Missense_Mutation	novel	L458S	0.44
BRCA	chr2	47466677	Missense_Mutation	rs587782355	Q510H	0.32
BRCA	chr2	47482776	Splice_Region	novel		0.08
BRCA	chr2	47475126	Nonsense_Mutation	rs63750508	R621*	0.59
BRCA	chr2	47475241	Missense_Mutation	NA	K659T	0.3
BRCA	chr2	47429893	Missense_Mutation	NA	G410S	0.11
BRCA	chr2	47445622	Missense_Mutation	NA	Q451E	0.12
BRCA	chr2	47445586	Missense_Mutation	novel	P439T	0.29
BRCA	chr2	47480810	Missense_Mutation	NA	G858A	0.2
CESC	chr2	47478507	Nonsense_Mutation	rs63749917	Q816*	0.19
CESC	chr2	47410370	Missense_Mutation	novel	Q215E	0.1
CESC	chr2	47410373	Splice_Site	novel	X215_splice	0.09
CESC	chr2	47476558	Missense_Mutation	rs772662439	A733T	0.1
CESC	chr2	47403365	Missense_Mutation	rs372189599	F58L	0.3
COAD	chr2	47429757	Silent	NA	E364E	0.3
COAD	chr2	47466796	Missense_Mutation	NA	K550T	0.39
COAD	chr2	47466762	Missense_Mutation	novel	F539V	0.05
COAD	chr2	47416405	Missense_Mutation	novel	M351T	0.14
COAD	chr2	47470996	Frame_Shift_Del	NA	*N566Ifs24**	0.23
COAD	chr2	47408438	Missense_Mutation	novel	M83I	0.33
COAD	chr2	47483027	3'UTR	novel		0.41
COAD	chr2	47466697	Frame_Shift_Del	NA	*Q518Vfs10**	0.61
COAD	chr2	47480817	Silent	rs752428475	S860S	0.45
COAD	chr2	47416394	Silent	novel	K347K	0.11
COAD	chr2	47410229	Missense_Mutation	NA	S168P	0.29
COAD	chr2	47478497	Frame_Shift_Ins	NA	*M813Nfs11**	0.17
COAD	chr2	47482808	Silent	NA	L888L	0.39
COAD	chr2	47414389	Missense_Mutation	rs63751454	A305T	0.33
COAD	chr2	47476451	Missense_Mutation	rs63750398	C697Y	0.32
COAD	chr2	47478457	Missense_Mutation	novel	N799S	0.4
COAD	chr2	47478472	Frame_Shift_Del	novel	*T806Kfs4**	0.2
COAD	chr2	47412458	Silent	NA	A230A	0.37
COAD	chr2	47429809	Frame_Shift_Del	novel	*R382Ifs26**	0.23
COAD	chr2	47478309	Silent	rs527725593	L750L	0.06
COAD	chr2	47478276	Missense_Mutation	NA	A739T	0.31
COAD	chr2	47410301	Missense_Mutation	NA	I192V	0.27
COAD	chr2	47416354	Missense_Mutation	novel	K334T	0.21
COAD	chr2	47471041	Nonsense_Mutation	rs63751411	E580*	0.33
COAD	chr2	47408491	Frame_Shift_Ins	novel	*V102Ifs75**	0.05
COAD	chr2	47475170	Silent	novel	K635K	0.21
COAD	chr2	47476492	Nonsense_Mutation	rs63750636	R711*	0.3
ESCA	chr2	47475075	Missense_Mutation	novel	A604T	0.34
GBM	chr2	47412479	Silent	novel	I237I	0.06
GBM	chr2	47429753	Missense_Mutation	novel	V363G	0.06
GBM	chr2	47429852	Missense_Mutation	novel	R396K	0.23
GBM	chr2	47480850	Missense_Mutation	NA	K871N	0.54
GBM	chr2	47478341	Silent	novel	F760F	0.09
GBM	chr2	47463082	Missense_Mutation	novel	E480Q	0.12
HNSC	chr2	47408508	Missense_Mutation	novel	A107T	0.28
HNSC	chr2	47445572	Missense_Mutation	rs768070717	A434V	0.15
HNSC	chr2	47410212	Missense_Mutation	novel	G162V	0.23
HNSC	chr2	47429809	Missense_Mutation	rs752373431	R382C	0.19
HNSC	chr2	47414417	Missense_Mutation	novel	Q314R	0.3
HNSC	chr2	47410152	Missense_Mutation	novel	S142L	0.13
KIRC	chr2	47476480	Missense_Mutation	NA	C707R	0.42
KIRC	chr2	47478474	Frame_Shift_Ins	novel	*L805Hfs4**	0.08
KIRC	chr2	47478475	Frame_Shift_Ins	novel	*T806Kfs8**	0.08
KIRC	chr2	47480848	Nonsense_Mutation	novel	K871delinsI*	0.04
KIRC	chr2	47480849	Frame_Shift_Ins	novel	*K871Nfs24**	0.04
KIRP	chr2	47410361	Frame_Shift_Del	novel	*K212Nfs2**	0.41
KIRP	chr2	47466752	Frame_Shift_Ins	novel	*N536Kfs2**	0.52
KIRP	chr2	47414336	Missense_Mutation	rs587782567	G287A	0.34
LGG	chr2	47478436	Missense_Mutation	rs587782891	N792S	0.06
LGG	chr2	47416352	Frame_Shift_Ins	novel	*T335Nfs9**	0.11
LIHC	chr2	47480828	In_Frame_Del	novel	D864_C873delinsG	0.14
LUAD	chr2	47475025	Missense_Mutation	NA	G587D	0.13
LUAD	chr2	47416419	Missense_Mutation	NA	I356V	0.35
LUAD	chr2	47482941	Missense_Mutation	novel	T933P	0.13
LUAD	chr2	47410291	Missense_Mutation	novel	E188D	0.22
LUAD	chr2	47410292	Missense_Mutation	rs63750821	A189S	0.21
LUAD	chr2	47410304	Nonsense_Mutation	rs63751326	Q193*	0.25
LUAD	chr2	47463059	Missense_Mutation	novel	P472L	0.04
LUAD	chr2	47476489	Missense_Mutation	novel	A710P	0.32
LUAD	chr2	47463029	Splice_Site	novel	X463_splice	0.15
LUAD	chr2	47463153	Splice_Region	NA	L503L	0.24
LUAD	chr2	47403335	Silent	NA	E48E	0.26
LUAD	chr2	47410334	Nonsense_Mutation	novel	G203*	0.19
LUAD	chr2	47482817	Silent	NA	V891V	0.2
LUAD	chr2	47463122	Missense_Mutation	rs376990143	Q493L	0.13
LUAD	chr2	47466706	Missense_Mutation	novel	G520V	0.17
LUAD	chr2	47463123	Missense_Mutation	NA	Q493H	0.16
LUSC	chr2	47445622	Nonsense_Mutation	rs786201066	Q451*	0.12
LUSC	chr2	47482948	Nonstop_Mutation	novel	935Lext7	0.22
LUSC	chr2	47480744	Nonsense_Mutation	novel	*F836_P837insSLSN**	0.05
LUSC	chr2	47412477	Missense_Mutation	novel	I237F	0.11
LUSC	chr2	47475198	Missense_Mutation	rs267607982	Q645E	0.13
OV	chr2	47429892	Silent	rs759098126	Q409Q	0.35
OV	chr2	47478311	Frame_Shift_Del	NA	*G751Efs12**	0.6
OV	chr2	47466801	Frame_Shift_Del	novel	*T552Pfs5**	0.04
OV	chr2	47478370	Missense_Mutation	novel	I770N	0.11
OV	chr2	47475143	Missense_Mutation	novel	E626D	0.07
OV	chr2	47429890	Nonsense_Mutation	novel	Q409*	0.59
OV	chr2	47482894	Missense_Mutation	rs767318526	A917V	0.2
PAAD	chr2	47466657	Splice_Site	rs267607964	X504_splice	0.14
PRAD	chr2	47412527	Missense_Mutation	novel	M253I	0.24
PRAD	chr2	47466755	Frame_Shift_Ins	novel	*N538Kfs3**	0.37
PRAD	chr2	47410204	Silent	novel	R159R	0.09
READ	chr2	47416427	Missense_Mutation	novel	E358D	0.27
READ	chr2	47429882	Missense_Mutation	rs146567853	R406Q	0.25
READ	chr2	47466745	Frame_Shift_Del	NA	*R534Vfs9**	0.41
READ	chr2	47429899	Missense_Mutation	NA	N412H	0.2
READ	chr2	47412417	Missense_Mutation	novel	I217L	0.41
READ	chr2	47429800	Missense_Mutation	rs764911657	D379Y	0.42
READ	chr2	47429882	Missense_Mutation	rs146567853	R406Q	0.55
READ	chr2	47482778	Splice_Site	novel	X879_splice	0.58
READ	chr2	47416412	Missense_Mutation	NA	K353N	0.31
SKCM	chr2	47483024	3'UTR	novel		0.4
SKCM	chr2	47482922	Silent	NA	I926I	0.31
SKCM	chr2	47416365	Missense_Mutation	rs63751004	G338R	0.39
SKCM	chr2	47445655	Nonsense_Mutation	novel	Q462*	0.25
SKCM	chr2	47466743	Silent	NA	V532V	0.54
SKCM	chr2	47476399	Nonsense_Mutation	rs63749932	R680*	0.26
SKCM	chr2	47476527	Silent	NA	V722V	0.25
SKCM	chr2	47463070	Missense_Mutation	NA	P476S	0.08
SKCM	chr2	47410282	Silent	novel	S185S	0.3
SKCM	chr2	47475263	Silent	NA	I666I	0.11
SKCM	chr2	47429848	Nonsense_Mutation	rs63750302	Q395*	0.77
SKCM	chr2	47478333	Missense_Mutation	NA	D758N	0.53
SKCM	chr2	47412467	Silent	NA	S233S	0.33
SKCM	chr2	47475263	Silent	NA	I666I	0.48
STAD	chr2	47482815	Missense_Mutation	novel	V891M	0.13
STAD	chr2	47412449	Frame_Shift_Del	novel	*A230Lfs16**	0.24
STAD	chr2	47429889	Nonsense_Mutation	NA	Y408*	0.21
STAD	chr2	47482930	Missense_Mutation	rs587779967	R929Q	0.46
STAD	chr2	47410254	Missense_Mutation	novel	C176Y	0.45
STAD	chr2	47412495	Missense_Mutation	rs138857091	R243W	0.59
STAD	chr2	47478275	Silent	NA	S738S	0.23
STAD	chr2	47412449	Frame_Shift_Del	novel	*A230Lfs16**	0.2
STAD	chr2	47412449	Frame_Shift_Del	novel	*A230Lfs16**	0.14
STAD	chr2	47429839	Frame_Shift_Del	novel	*K392Rfs20**	0.24
STAD	chr2	47403248	Frame_Shift_Del	novel	*F19Lfs45**	0.33
STAD	chr2	47403249	Missense_Mutation	novel	V20L	0.33
THCA	chr2	47482859	Frame_Shift_Ins	novel	*I906Hfs3**	0.17
THCA	chr2	47429813	Missense_Mutation	NA	R383L	0.33
THCA	chr2	47478474	Frame_Shift_Ins	novel	*L805Hfs11**	0.05
THYM	chr2	47412449	Frame_Shift_Del	novel	*A230Lfs16**	0.3
UCEC	chr2	47475153	Nonsense_Mutation	novel	G630*	0.33
UCEC	chr2	47480852	Splice_Site	novel	X872_splice	0.13
UCEC	chr2	47471041	Nonsense_Mutation	rs63751411	E580*	0.35
UCEC	chr2	47410294	Silent	novel	A189A	0.25
UCEC	chr2	47463091	Nonsense_Mutation	rs63749947	E483*	0.27
UCEC	chr2	47470999	Missense_Mutation	NA	N566H	0.38
UCEC	chr2	47480850	Missense_Mutation	NA	K871N	0.4
UCEC	chr2	47410242	Missense_Mutation	novel	K172R	0.44
UCEC	chr2	47463113	Missense_Mutation	novel	K490R	0.36
UCEC	chr2	47476373	Missense_Mutation	novel	N671I	0.34
UCEC	chr2	47482912	Missense_Mutation	novel	V923A	0.28
UCEC	chr2	47408417	Missense_Mutation	rs587782857	Q76H	0.48
UCEC	chr2	47412448	Frame_Shift_Ins	novel	*A230Sfs2**	0.36
UCEC	chr2	47471041	Nonsense_Mutation	rs63751411	E580*	0.44
UCEC	chr2	47471016	Missense_Mutation	novel	E571D	0.14
UCEC	chr2	47482848	Nonsense_Mutation	novel	E902*	0.33
UCEC	chr2	47480847	Frame_Shift_Del	novel	*K871Rfs21**	0.58
UCEC	chr2	47408408	Missense_Mutation	NA	K73N	0.26
UCEC	chr2	47478388	Missense_Mutation	novel	A776V	0.07
UCEC	chr2	47482893	Missense_Mutation	rs200581817	A917T	0.47
UCEC	chr2	47412449	Frame_Shift_Del	novel	*A230Lfs16**	0.24
UCEC	chr2	47466809	Splice_Site	rs267607969	X554_splice	0.54
UCEC	chr2	47416388	Nonsense_Mutation	rs63750396	W345*	0.11
UCEC	chr2	47408483	Nonsense_Mutation	novel	Y98*	0.31
UCEC	chr2	47476533	Silent	rs370636719	T724T	0.28
UCEC	chr2	47410187	Missense_Mutation	rs759712763	A154T	0.19
UCEC	chr2	47416372	Missense_Mutation	novel	R340I	0.21
UCEC	chr2	47414333	Missense_Mutation	novel	F286S	0.37
UCEC	chr2	47476381	Missense_Mutation	rs63750234	G674S	0.38
UCEC	chr2	47463054	Frame_Shift_Del	novel	*K471Nfs11**	0.3
UCEC	chr2	47466755	Frame_Shift_Ins	novel	*N538Kfs3**	0.27
UCEC	chr2	47408445	Nonsense_Mutation	novel	E86*	0.43
UCEC	chr2	47414308	Nonsense_Mutation	novel	E278*	0.33
UCEC	chr2	47414277	Silent	novel	V267V	0.27
UCEC	chr2	47408428	Frame_Shift_Del	novel	*S81Vfs3**	0.37
UCEC	chr2	47478480	Frame_Shift_Del	novel	*T807Lfs5**	0.27
UCEC	chr2	47416332	Missense_Mutation	novel	A327T	0.42
UCEC	chr2	47410235	Nonsense_Mutation	rs63750843	Q170*	0.33
UCEC	chr2	47429943	Splice_Site	rs267607953	X426_splice	0.29
UCEC	chr2	47463125	Nonsense_Mutation	novel	S494*	0.3
UCEC	chr2	47478488	Missense_Mutation	novel	E809D	0.26
UCEC	chr2	47429941	Splice_Site	NA	X426_splice	0.2
UCEC	chr2	47480830	Missense_Mutation	novel	I865V	0.33
UCEC	chr2	47475130	Missense_Mutation	rs28929483	P622L	0.68
UCEC	chr2	47416300	Missense_Mutation	novel	S316Y	0.37
UCEC	chr2	47416417	Missense_Mutation	rs730881754	R355I	0.12
UCEC	chr2	47466748	Missense_Mutation	rs587778523	R534H	0.4
UCEC	chr2	47463136	Missense_Mutation	NA	S498R	0.33
UCEC	chr2	47476463	Missense_Mutation	novel	E701G	0.29
UCEC	chr2	47410358	Missense_Mutation	rs587780689	G211R	0.05
UCEC	chr2	47408463	Missense_Mutation	novel	L92I	0.09
UCEC	chr2	47466748	Frame_Shift_Del	NA	*R534Lfs9**	0.27
UCEC	chr2	47410259	Frame_Shift_Del	novel	*F178Sfs36**	0.85
UCEC	chr2	47466737	Silent	NA	E530E	0.22
UCEC	chr2	47412424	Missense_Mutation	novel	R219I	0.17
UCEC	chr2	47416407	Missense_Mutation	novel	D352Y	0.23
UCEC	chr2	47466717	Missense_Mutation	rs755818010	R524C	0.21
UCEC	chr2	47475122	Nonsense_Mutation	novel	Y619*	0.91
UCEC	chr2	47414309	Missense_Mutation	novel	E278G	0.48
UCEC	chr2	47403263	Missense_Mutation	novel	Q24H	0.29
UCEC	chr2	47471008	Nonsense_Mutation	novel	E569*	0.07
UCS	chr2	47480817	Silent	rs752428475	S860S	0.49

Copy Number Variations (CNVs)

Cancer	Type	Freq	Q-value
CESC	AMP	0.2136	0.099937
KIRP	DEL	0.0278	0.08832
PAAD	DEL	0.0707	0.2014
TGCT	AMP	0.2467	0.0050216

Survival Analysis

Cancer	P-value	Q-value
THYM	0.0024	Kaplan-Meier Survival Analysis
KIRC	0.00011	Kaplan-Meier Survival Analysis
STAD	0.0015	Kaplan-Meier Survival Analysis
SARC	0.00011	Kaplan-Meier Survival Analysis
MESO	0.022	Kaplan-Meier Survival Analysis
ACC	0.00013	Kaplan-Meier Survival Analysis
SKCM	0.004	Kaplan-Meier Survival Analysis
LUSC	0.0095	Kaplan-Meier Survival Analysis
KIRP	0.0011	Kaplan-Meier Survival Analysis
PAAD	0.00034	Kaplan-Meier Survival Analysis
PCPG	0.018	Kaplan-Meier Survival Analysis
READ	0.0024	Kaplan-Meier Survival Analysis
KICH	0.02	Kaplan-Meier Survival Analysis
UCEC	0.0017	Kaplan-Meier Survival Analysis
LIHC	0.0002	Kaplan-Meier Survival Analysis
LGG	0.00059	Kaplan-Meier Survival Analysis

Drugs

Cell lines and drugs in GSE70138 or GSE92742

Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

Description

Ensembl ID: ENSG00000095002 (Gene tree)
Gene ID: 4436
Gene Symbol: MSH2
Alias: HNPCC|HNPCC1|COCA1
Full Name: mutS homolog 2
Gene Type: protein_coding
Species: Homo_sapiens
Status: confidence
Strand: Plus strand
Length: 260,178 bases
Position: chr2:47,402,969-47,663,146
Accession: 7325
RBP type: non-canonical RBP
Summary: 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. [provided by RefSeq, Apr 2012]

RNA binding proteome (RBPome)

PID	Title	Method	Time	Author	Doi
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & HEK293	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2
30528433	The Human RNA-Binding Proteome and Its Dynamics during Translational Arrest	XRNAX & HEK293	2018 Dec 6	Trendel J	DOI: 10.1016/j.cell.2018.11.004
29431736	Capturing the interactome of newly transcribed RNA	PolyT-RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
29431736	Capturing the interactome of newly transcribed RNA	RICK & Hela	2018 Feb 12	Bao X	DOI: 10.1038/nmeth.4595
30607034	Comprehensive identification of RNA protein interactions in any organism using orthogonal organic phase separation (OOPS)	OOPS & U2OS	2019 Jan 3	Queiroz RML	DOI: 10.1038/s41587-018-0001-2

Literatures on RNA binding capacity

PID	Title	Article	Time	Author	Doi
22614019	The Grainyhead transcription factor Grhl3/Get1 suppresses miR-21 expression and tumorigenesis in skin: modulation of the miR-21 target MSH2 by RNA-binding protein DND1.	Oncogene	2013 Mar 21	Bhandari A	doi: 10.1038/onc.2012.168
16226712	Proteomic analysis of human O6-methylguanine-DNA methyltransferase by affinity chromatography and tandem mass spectrometry.	Biochem Biophys Res Commun	2005 Dec 2	Niture SK	-

Expression

Transcripts

Transcript ID	Name	Length	RefSeq ID	Protein ID	Length	RefSeq ID	UniportKB ID
ENST00000645339	MSH2-208	3113	-	ENSP00000496441	918 (aa)	-	A0A2R8YFH0
ENST00000543555	MSH2-205	3024	-	ENSP00000442697	868 (aa)	-	P43246
ENST00000454849	MSH2-203	560	-	ENSP00000411482	140 (aa)	-	C9J809
ENST00000644092	MSH2-206	5343	-	ENSP00000496351	558 (aa)	-	A0A2R8Y7S8
ENST00000645506	MSH2-209	7893	XM_011532867	ENSP00000495455	924 (aa)	XP_011531169	A0A2R8Y6P0
ENST00000644900	MSH2-207	1663	-	ENSP00000495641	168 (aa)	-	A0A2R8Y713
ENST00000233146	MSH2-201	3307	-	ENSP00000233146	934 (aa)	-	P43246
ENST00000646415	MSH2-210	4523	-	ENSP00000495543	938 (aa)	-	A0A2R8YG02
ENST00000467323	MSH2-204	313	-	-	- (aa)	-	-
ENST00000406134	MSH2-202	3628	XM_005264332	ENSP00000384199	921 (aa)	XP_005264389	E9PHA6

Gene Model

Click here to download ENSG00000095002's gene model file

Pathways

Pathway ID	Pathway Name	Source
hsa01524	Platinum drug resistance	KEGG
hsa03430	Mismatch repair	KEGG
hsa05200	Pathways in cancer	KEGG
hsa05210	Colorectal cancer	KEGG

Phenotypes

ensgID	Trait	pValue	Pubmed ID
ENSG00000095002	Stroke	7.2991377E-005	-
ENSG00000095002	Platelet Function Tests	1.5046600E-005	-
ENSG00000095002	Platelet Function Tests	4.3524848E-006	-
ENSG00000095002	Platelet Function Tests	4.4207540E-006	-
ENSG00000095002	Platelet Function Tests	4.0450658E-006	-
ENSG00000095002	Platelet Function Tests	6.0888667E-007	-
ENSG00000095002	Bronchodilator Agents	5E-6	26634245
ENSG00000095002	Lung Volume Measurements	5E-6	26634245
ENSG00000095002	Alzheimer Disease	8E-7	26830138
ENSG00000095002	Age of Onset	8E-7	26830138
ENSG00000095002	Alpha Rhythm	7E-6	25387704
ENSG00000095002	Brain Waves	7E-6	25387704

GWAS

ensgID	SNP	Chromosome	Position	SNP-risk	Trait	PubmedID	95% CI	Or or BEAT	EFO ID
ENSG00000095002	rs147620864	2	47459393	G	Post bronchodilator FEV1/FVC ratio	26634245	unit increase	0.315	GO_0097366\|EFO_0004713
ENSG00000095002	rs186552003	2	47443115	A	Alzheimer disease and age of onset	26830138	unit increase	4.943	EFO_0000249\|EFO_0004847
ENSG00000095002	rs2969775	2	47658337	?	Psychosis in Alzheimer's disease	22005930	[NR]	1.4705882	EFO_0000249\|EFO_0005940
ENSG00000095002	rs10514805	2	47452839	?	Electroencephalogram traits	25387704	[0.098-0.246] unit increase	0.172	EFO_0006870\|EFO_0004357
ENSG00000095002	rs6544997	2	47617366	?	Vitiligo	19890347			EFO_0004208

Protein-Protein Interaction (PPI)

Clik here to download ENSG00000095002's network

* RBP PPI network refers to all genes directly bind to RBP

Orthologs identified by RBPome

Ensembl ID	Gene Symbol	Coverage	Identiy	Ortholog	Gene Symbol	Coverage	Identiy	Species
ENSG00000095002	MSH2	99	93.128	ENSMUSG00000024151	Msh2	99	92.803	Mus_musculus

Gene Ontology

Go ID	Go_term	PubmedID	Evidence	Category
GO:0000287	magnesium ion binding	16403449.	IDA	Function
GO:0000400	four-way junction DNA binding	21873635.	IBA	Function
GO:0000400	four-way junction DNA binding	12034830.	IDA	Function
GO:0000784	nuclear chromosome, telomeric region	19135898.	HDA	Component
GO:0001701	in utero embryonic development	-	IEA	Process
GO:0003677	DNA binding	7923193.	IDA	Function
GO:0003682	chromatin binding	26300262.	IDA	Function
GO:0003684	damaged DNA binding	21873635.	IBA	Function
GO:0003690	double-stranded DNA binding	11809883.	IDA	Function
GO:0003697	single-stranded DNA binding	11809883.	IDA	Function
GO:0005515	protein binding	8942985.9207118.9774676.10856833.12414623.14657349.15014079.16025128.18675275.19377479.19596235.22157815.22179786.25241761.26221039.26496610.	IPI	Function
GO:0005515	protein binding	16403449.	IPI	Function
GO:0005524	ATP binding	21873635.	IBA	Function
GO:0005524	ATP binding	15105434.	IDA	Function
GO:0005634	nucleus	21873635.	IBA	Component
GO:0005634	nucleus	26300262.	IDA	Component
GO:0005654	nucleoplasm	-	TAS	Component
GO:0006119	oxidative phosphorylation	-	IEA	Process
GO:0006281	DNA repair	8942985.	IDA	Process
GO:0006298	mismatch repair	21873635.	IBA	Process
GO:0006298	mismatch repair	7923193.11555625.	IDA	Process
GO:0006298	mismatch repair	23603115.	IGI	Process
GO:0006298	mismatch repair	-	TAS	Process
GO:0006301	postreplication repair	21873635.	IBA	Process
GO:0006301	postreplication repair	7923193.	IDA	Process
GO:0006302	double-strand break repair	21873635.	IBA	Process
GO:0007050	cell cycle arrest	-	IEA	Process
GO:0007281	germ cell development	-	IEA	Process
GO:0008022	protein C-terminus binding	14706347.	IPI	Function
GO:0008094	DNA-dependent ATPase activity	21873635.	IBA	Function
GO:0008340	determination of adult lifespan	-	IEA	Process
GO:0008584	male gonad development	-	ISS	Process
GO:0010165	response to X-ray	21873635.	IBA	Process
GO:0010165	response to X-ray	-	ISS	Process
GO:0010224	response to UV-B	21873635.	IBA	Process
GO:0010224	response to UV-B	-	ISS	Process
GO:0016020	membrane	19946888.	HDA	Component
GO:0016446	somatic hypermutation of immunoglobulin genes	-	IEA	Process
GO:0016447	somatic recombination of immunoglobulin gene segments	-	ISS	Process
GO:0016887	ATPase activity	16403449.	IDA	Function
GO:0019237	centromeric DNA binding	-	IEA	Function
GO:0019724	B cell mediated immunity	-	ISS	Process
GO:0019899	enzyme binding	9788596.10856833.11427529.11429708.12414623.14676842.17715146.26300262.	IPI	Function
GO:0019901	protein kinase binding	14657349.	IPI	Function
GO:0030183	B cell differentiation	-	ISS	Process
GO:0030983	mismatched DNA binding	8942985.11756455.11801590.	IDA	Function
GO:0031573	intra-S DNA damage checkpoint	21873635.	IBA	Process
GO:0032137	guanine/thymine mispair binding	21873635.	IBA	Function
GO:0032137	guanine/thymine mispair binding	8942985.11809883.	IDA	Function
GO:0032137	guanine/thymine mispair binding	16713580.	IMP	Function
GO:0032139	dinucleotide insertion or deletion binding	8942985.	IDA	Function
GO:0032142	single guanine insertion binding	8942985.	IDA	Function
GO:0032143	single thymine insertion binding	21873635.	IBA	Function
GO:0032143	single thymine insertion binding	8942985.	IDA	Function
GO:0032181	dinucleotide repeat insertion binding	8942985.	IDA	Function
GO:0032300	mismatch repair complex	21873635.	IBA	Component
GO:0032301	MutSalpha complex	21873635.	IBA	Component
GO:0032301	MutSalpha complex	8942985.23622243.	IDA	Component
GO:0032302	MutSbeta complex	21873635.	IBA	Component
GO:0032302	MutSbeta complex	8942985.	IDA	Component
GO:0032357	oxidized purine DNA binding	11756455.11801590.	IDA	Function
GO:0032405	MutLalpha complex binding	16403449.	IDA	Function
GO:0042771	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	21873635.	IBA	Process
GO:0042803	protein homodimerization activity	8942985.	IDA	Function
GO:0043524	negative regulation of neuron apoptotic process	-	ISS	Process
GO:0043531	ADP binding	15105434.	IDA	Function
GO:0043570	maintenance of DNA repeat elements	21873635.	IBA	Process
GO:0043570	maintenance of DNA repeat elements	16388310.	IMP	Process
GO:0045190	isotype switching	-	ISS	Process
GO:0045910	negative regulation of DNA recombination	21873635.	IBA	Process
GO:0045910	negative regulation of DNA recombination	17715146.	IDA	Process
GO:0045910	negative regulation of DNA recombination	-	ISS	Process
GO:0048298	positive regulation of isotype switching to IgA isotypes	-	IEA	Process
GO:0048304	positive regulation of isotype switching to IgG isotypes	-	IEA	Process
GO:0051096	positive regulation of helicase activity	17715146.	IDA	Process
GO:0071168	protein localization to chromatin	26300262.	IMP	Process

EuRBPDB

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Description

RBPome

Literatures

Expression

Transcripts

Gene Model

Pathways

Phenotypes

GWAS

PPI

Orthologs

Gene Ontology

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Input Drug :

Input Cell Line :

Eesembl ID

Cell lines and drugs in GSE70138 or GSE92742

Note: to get the extension of tumor abbreviations.