MSH2 (mutS homolog 2) - Rat Genome Database

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Gene: MSH2 (mutS homolog 2) Homo sapiens
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Symbol: MSH2
Name: mutS homolog 2
RGD ID: 732745
HGNC Page HGNC:7325
Description: Enables several functions, including ATP-dependent activity, acting on DNA; chromatin binding activity; and protein homodimerization activity. Contributes to several functions, including DNA binding activity; MutLalpha complex binding activity; and adenyl ribonucleotide binding activity. Involved in DNA metabolic process; negative regulation of DNA recombination; and positive regulation of helicase activity. Acts upstream of or within mismatch repair. Located in nucleoplasm. Part of MutSalpha complex and MutSbeta complex. Implicated in several diseases, including Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer (multiple); mismatch repair cancer syndrome; and transitional cell carcinoma. Biomarker of several diseases, including carcinoma (multiple); cervix uteri carcinoma in situ; colon cancer; osteosarcoma; and prostate cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: COCA1; DNA mismatch repair protein Msh2; DNA mismatch repair protein Msh2 transcript; FCC1; hMSH2; HNPCC; HNPCC1; LCFS2; LOC124907764; LYNCH1; mismatch repair protein; MMRCS2; MSH-2; mutS homolog 2, colon cancer, nonpolyposis type 1; mutS protein homolog 2; MutS-like 2; truncated MSH2; uncharacterized LOC124907764
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38247,403,067 - 47,709,830 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl247,403,067 - 47,663,146 (+)EnsemblGRCh38hg38GRCh38
GRCh37247,630,206 - 47,936,969 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36247,483,767 - 47,563,864 (+)NCBINCBI36Build 36hg18NCBI36
Build 34247,541,913 - 47,622,011NCBI
Celera247,469,014 - 47,549,030 (+)NCBICelera
Cytogenetic Map2p21-p16.3NCBI
HuRef247,367,170 - 47,445,840 (+)NCBIHuRef
CHM1_1247,560,266 - 47,640,762 (+)NCBICHM1_1
T2T-CHM13v2.0247,408,101 - 47,714,827 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
ascending colon cancer  (IAGP)
ataxia telangiectasia  (IAGP)
bile duct cancer  (IAGP)
breast cancer  (IAGP)
breast carcinoma  (IAGP,IEP)
cerebral palsy  (IAGP)
cervix uteri carcinoma in situ  (IEP)
colitis  (ISO)
colon cancer  (IAGP,IEP)
colon carcinoma  (IAGP)
Colon Diverticulum  (IAGP)
Colonic Polyps  (IAGP)
colorectal adenocarcinoma  (ISO)
colorectal cancer  (IAGP)
Colorectal Neoplasms  (EXP,TAS)
Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency  (IAGP)
endometrial carcinoma  (IAGP)
Endometrial Neoplasms  (IAGP,IEP)
Ependymomas  (IAGP)
esophagus squamous cell carcinoma  (IDA)
Experimental Seizures  (ISO)
Germ Cell and Embryonal Neoplasms  (IEP)
glioblastoma  (IAGP)
hepatoblastoma  (IAGP)
hereditary breast ovarian cancer syndrome  (IAGP)
Hereditary Neoplastic Syndromes  (IAGP)
hereditary nonpolyposis colorectal cancer type 2  (IAGP)
hereditary nonpolyposis colorectal cancer type 4  (IAGP)
high grade glioma  (IAGP)
Huntington's disease  (ISO)
Hydatidiform Mole  (IDA)
Hydatidiform Mole, Invasive  (IEP)
laryngeal squamous cell carcinoma  (IEP)
lung adenocarcinoma  (IAGP)
lung cancer  (IAGP)
lung non-small cell carcinoma  (IAGP,IEP)
Lymphatic Metastasis  (IEP)
Lynch syndrome  (EXP,IAGP,ISS)
Lynch syndrome 1  (EXP,IAGP)
mismatch repair cancer syndrome  (IAGP)
Mismatch Repair Cancer Syndrome 1  (IAGP)
Mismatch Repair Cancer Syndrome 2  (IAGP)
Muir-Torre syndrome  (EXP,IAGP)
Neoplasm Metastasis  (IEP)
osteosarcoma  (IEP)
ovarian cancer  (IAGP)
ovarian cyst  (IAGP)
Ovarian Neoplasms  (EXP,IAGP,IEP)
Pitt-Hopkins-like syndrome 2  (IAGP)
prostate cancer  (IEP)
renal cell carcinoma  (IAGP,IEP)
Renal Cell Carcinoma 1  (IAGP)
rhabdomyosarcoma  (IAGP)
sarcoma  (IAGP)
sigmoid colon cancer  (IAGP)
sigmoid neoplasm  (IAGP)
stomach cancer  (IAGP)
transitional cell carcinoma  (IAGP)
urinary bladder cancer  (IAGP,IEP)
Urogenital Neoplasms  (IEP)
Uterine Cervical Neoplasms  (IEP)
uterine corpus cancer  (IAGP)
Vulvar Neoplasms  (IEP)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(-)-quinic acid  (EXP)
(S)-naringenin  (EXP)
1,2-dimethylhydrazine  (ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arecoline  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
azathioprine  (EXP,ISO)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP)
biphenyl-4-amine  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
Butylbenzyl phthalate  (ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
carboplatin  (ISO)
carmustine  (EXP)
chlorpromazine  (EXP)
chromium(6+)  (EXP)
cisplatin  (EXP,ISO)
citalopram  (ISO)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
cyclophosphamide  (ISO)
cyclosporin A  (EXP)
DDE  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
dichromium trioxide  (EXP)
dicrotophos  (EXP)
dieldrin  (ISO)
Dimethyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
dipentyl phthalate  (ISO)
doxorubicin  (EXP)
enzyme inhibitor  (EXP)
erastin  (EXP)
escitalopram  (ISO)
floxuridine  (EXP)
folic acid  (ISO)
furan  (ISO)
gamma-hexachlorocyclohexane  (ISO)
genistein  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
hydrogen peroxide  (EXP)
imiquimod  (ISO)
indirubin  (EXP)
irinotecan  (EXP)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lead diacetate  (EXP)
lipopolysaccharide  (EXP)
lycopene  (EXP)
mechlorethamine  (ISO)
menadione  (EXP)
methimazole  (ISO)
methoxychlor  (ISO)
methylarsonic acid  (ISO)
monocrotaline  (EXP)
N-acetyl-L-cysteine  (EXP)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (EXP)
N-methyl-N-nitrosourea  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
nitrates  (ISO)
olaparib  (EXP)
oxaliplatin  (ISO)
oxybenzone  (EXP)
ozone  (ISO)
paracetamol  (EXP)
pergolide  (EXP)
phenobarbital  (EXP)
PhIP  (ISO)
pirinixic acid  (ISO)
piroxicam  (EXP)
potassium chromate  (EXP)
propiconazole  (ISO)
pyrimidines  (EXP,ISO)
quercetin  (EXP,ISO)
resveratrol  (ISO)
riddelliine  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silicon dioxide  (ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
sterigmatocystin  (EXP)
succimer  (ISO)
sunitinib  (EXP)
temozolomide  (EXP,ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
tioguanine  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
uranium atom  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
chromosome  (IEA)
chromosome, telomeric region  (HDA)
membrane  (HDA)
MutSalpha complex  (IBA,IDA,IEA,IPI)
MutSbeta complex  (IDA,IPI)
nucleoplasm  (IDA,TAS)
nucleus  (IBA,IDA,IEA)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal pain  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormal speech pattern  (IAGP)
Adenoma sebaceum  (IAGP)
Amaurosis fugax  (IAGP)
Anxiety  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Atypical behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Basal cell carcinoma  (IAGP)
Benign gastrointestinal tract tumors  (IAGP)
Benign genitourinary tract neoplasm  (IAGP)
Benign neoplasm of the central nervous system  (IAGP)
Breast carcinoma  (IAGP)
Cardiac diverticulum  (IAGP)
Cerebral palsy  (IAGP)
Cholangiocarcinoma  (IAGP)
Colon cancer  (IAGP)
Colonic diverticula  (IAGP)
Constipation  (IAGP)
Death in early adulthood  (IAGP)
Death in infancy  (IAGP)
Depression  (IAGP)
Developmental regression  (IAGP)
Disturbed sensory perception  (IAGP)
Duodenal adenocarcinoma  (IAGP)
Dysarthria  (IAGP)
Dysgraphia  (IAGP)
Dyskinesia  (IAGP)
Endometrial carcinoma  (IAGP)
Ependymoma  (IAGP)
Fatigue  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Glioblastoma multiforme  (IAGP)
Hallucinations  (IAGP)
Hematological neoplasm  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hepatoblastoma  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hereditary nonpolyposis colorectal carcinoma  (IAGP)
Hypertonia  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Intestinal polyposis  (IAGP)
Irritability  (IAGP)
Laryngeal carcinoma  (IAGP)
Malabsorption  (IAGP)
Malignant genitourinary tract tumor  (IAGP)
Memory impairment  (IAGP)
Middle age onset  (IAGP)
Migraine  (IAGP)
Multiple cafe-au-lait spots  (IAGP)
Nausea and vomiting  (IAGP)
Neoplasm of the liver  (IAGP)
Neoplasm of the pancreas  (IAGP)
Neoplasm of the rectum  (IAGP)
Neoplasm of the skeletal system  (IAGP)
Neoplasm of the skin  (IAGP)
Neoplasm of the stomach  (IAGP)
Neoplasm of the thyroid gland  (IAGP)
Neuroblastoma  (IAGP)
Ovarian cyst  (IAGP)
Ovarian neoplasm  (IAGP)
Pancreatic adenocarcinoma  (IAGP)
Papillary renal cell carcinoma type 1  (IAGP)
Paresthesia  (IAGP)
Pituitary adenoma  (IAGP)
Renal neoplasm  (IAGP)
Rhabdomyosarcoma  (IAGP)
Salivary gland neoplasm  (IAGP)
Sarcoma  (IAGP)
Sebaceous gland carcinoma  (IAGP)
Seizure  (IAGP)
Stomach cancer  (IAGP)
T-cell acute lymphoblastic leukemias  (IAGP)
Urinary tract neoplasm  (IAGP)
Visual field defect  (IAGP)
Visual impairment  (IAGP)
Weight loss  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Predominant germ-line mutation of the hMSH2 gene in Japanese hereditary non-polyposis colorectal cancer kindreds. Bai YQ, etal., Int J Cancer. 1999 Aug 12;82(4):512-5.
2. Mismatch repair genes in renal cortical neoplasms. Baiyee D and Banner B, Hum Pathol. 2006 Feb;37(2):185-9. Epub 2005 Dec 15.
3. Distribution and kainate-mediated induction of the DNA mismatch repair protein MSH2 in rat brain. Belloni M, etal., Neuroscience. 1999;94(4):1323-31.
4. Expression of the mismatch repair protein hMSH2 in carcinoma in situ and invasive cancer of the breast. Bock N, etal., Anticancer Res. 2000 Jan-Feb;20(1A):119-24.
5. Analysis of MSH2 Loss of Heterozygosity, Expression, and IVS10+12G>A Polymorphism in Sporadic Colon Cancer. Cacev T, etal., Anticancer Res. 2018 May;38(5):2841-2848. doi: 10.21873/anticanres.12529.
6. Apurinic/apyrimidinic endonuclease 1, the sensitive marker for DNA deterioration in dextran sulfate sodium-induced acute colitis. Chang IY, etal., Redox Rep. 2013;18(5):165-73. doi: 10.1179/1351000213Y.0000000056. Epub 2013 Jul 23.
7. Mismatch repair gene promoter methylation and expression in hydatidiform moles. Chen H, etal., Arch Gynecol Obstet. 2005 Jun;272(1):35-9. Epub 2004 Aug 28.
8. Polymorphisms in hMSH2 and hMLH1 and response to platinum-based chemotherapy in advanced non-small-cell lung cancer patients. Cheng H, etal., Acta Biochim Biophys Sin (Shanghai). 2010 May 15;42(5):311-7. doi: 10.1093/abbs/gmq023.
9. The expression of mismatched repair genes and their correlation with clinicopathological parameters and response to neo-adjuvant chemotherapy in breast cancer. Chintamani, etal., Int Semin Surg Oncol. 2007 Feb 14;4:5.
10. Immunohistochemical expression of DNA mismatch repair (MMR) system proteins (hMLH1, hMSH2) in cervical preinvasive and invasive lesions. Ciavattini A, etal., Pathol Res Pract. 2005;201(1):21-5.
11. 1,2-Dimethylhydrazine-induced colon carcinoma and lymphoma in msh2(-/-) mice. Colussi C, etal., J Natl Cancer Inst. 2001 Oct 17;93(20):1534-40. doi: 10.1093/jnci/93.20.1534.
12. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
13. An intronic germline transition in the HNPCC gene hMSH2 is associated with sporadic colorectal cancer. Goessl C, etal., Eur J Cancer. 1997 Oct;33(11):1869-74. doi: 10.1016/s0959-8049(97)00219-0.
14. Reduced expression of mutS homolog 2 and mutL homolog 1 affects overall survival in laryngeal squamous cell carcinoma patients: Investigation into a potential cause. Gong HL, etal., Oncol Rep. 2013 Sep;30(3):1371-9. doi: 10.3892/or.2013.2559. Epub 2013 Jun 20.
15. Cyclical change of hMSH2 protein expression in normal endometrium during the menstrual cycle and its overexpression in endometrial hyperplasia and sporadic endometrial carcinoma. Hamid AA, etal., Cancer. 2002 Feb 15;94(4):997-1005.
16. Overexpression of MutL homolog 1 and MutS homolog 2 proteins have reversed prognostic implications for stage I-II colon cancer patients. Huang SC, etal., Biomed J. 2017 Feb;40(1):39-48. doi: 10.1016/j.bj.2017.01.004. Epub 2017 Mar 14.
17. DNA mismatch repair defects: role in colorectal carcinogenesis. Jacob S and Praz F, Biochimie. 2002 Jan;84(1):27-47.
18. Expression of MSH2 and MSH6 on a tissue microarray in patients with osteosarcoma. Jentzsch T, etal., Anticancer Res. 2014 Dec;34(12):6961-72.
19. Urinary Tract Cancer in Lynch Syndrome; Increased Risk in Carriers of MSH2 Mutations. Joost P, etal., Urology. 2015 Dec;86(6):1212-7. doi: 10.1016/j.urology.2015.08.018. Epub 2015 Sep 15.
20. Polymorphisms in the hMSH2 gene and the risk of primary lung cancer. Jung CY, etal., Cancer Epidemiol Biomarkers Prev. 2006 Apr;15(4):762-8.
21. MutS homologue 2 and the long-term benefit of adjuvant chemotherapy in lung cancer. Kamal NS, etal., Clin Cancer Res. 2010 Feb 15;16(4):1206-15. doi: 10.1158/1078-0432.CCR-09-2204. Epub 2010 Feb 9.
22. Expression of DNA mismatch repair gene MSH2 in cytological material from lung cancer patients. Kanellis G, etal., Diagn Cytopathol. 2006 Jul;34(7):463-6. doi: 10.1002/dc.20473.
23. Increasing oxidative damage and loss of mismatch repair enzymes during breast carcinogenesis. Karihtala P, etal., Eur J Cancer. 2006 Oct;42(15):2653-9. Epub 2006 Sep 22.
24. Immunohistochemistry of proteins for DNA mismatch repair in correlation to prognostic factors of mammarian cancer. Koster F, etal., Oncol Rep. 2007 May;17(5):1223-7.
25. Immunohistochemical detection of hMLH1 and hMSH2 proteins in vulvar carcinoma. Kwasniewska A, etal., Int J Mol Med. 2005 Jun;15(6):955-61.
26. Mechanisms and functions of DNA mismatch repair. Li GM Cell Res. 2008 Jan;18(1):85-98.
27. [Relationship between combined multigene detection and response to chemotherapy and prognosis in epithelial ovarian carcinomas]. Li L, etal., Zhonghua Fu Chan Ke Za Zhi. 2007 Sep;42(9):600-4.
28. Aberrant methylation of different DNA repair genes demonstrates distinct prognostic value for esophageal cancer. Ling ZQ, etal., Dig Dis Sci. 2011 Oct;56(10):2992-3004. doi: 10.1007/s10620-011-1774-z. Epub 2011 Jun 15.
29. MSH2 promoter hypermethylation in circulating tumor DNA is a valuable predictor of disease-free survival for patients with esophageal squamous cell carcinoma. Ling ZQ, etal., Eur J Surg Oncol. 2012 Apr;38(4):326-32. doi: 10.1016/j.ejso.2012.01.008. Epub 2012 Jan 23.
30. Association between DNA mismatch repair gene polymorphisms and platinum-based chemotherapy toxicity in non-small cell lung cancer patients. Liu JY, etal., Chin J Cancer. 2017 Jan 16;36(1):12. doi: 10.1186/s40880-016-0175-2.
31. Prospective determination of prevalence of lynch syndrome in young women with endometrial cancer. Lu KH, etal., J Clin Oncol. 2007 Nov 20;25(33):5158-64. Epub 2007 Oct 9.
32. Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. Maletzki C, etal., Mol Carcinog. 2017 Jul;56(7):1753-1764. doi: 10.1002/mc.22632. Epub 2017 Mar 30.
33. New founding mutation in MSH2 associated with hereditary nonpolyposis colorectal cancer syndrome on the Island of Tenerife. Medina-Arana V, etal., Cancer Lett. 2006 Dec 8;244(2):268-73. doi: 10.1016/j.canlet.2005.12.033. Epub 2006 Feb 24.
34. Microsatellite instability and mutation analysis of candidate genes in urothelial cell carcinomas of upper urinary tract. Mongiat-Artus P, etal., Oncogene. 2006 Mar 30;25(14):2113-8.
35. Prognostic value of microsatellite instability determined by immunohistochemical staining of hMSH2 and hMSH6 in urothelial carcinoma of the bladder. Mylona E, etal., APMIS. 2008 Jan;116(1):59-65.
36. Screening for urinary tract cancer with urine cytology in Lynch syndrome and familial colorectal cancer. Myrhoj T, etal., Fam Cancer. 2008 Apr 4;.
37. Loss of MSH2 protein expression is a risk factor in early stage cervical cancer. Nijhuis ER, etal., J Clin Pathol. 2007 Jul;60(7):824-30.
38. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
39. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
40. Polymorphisms of the DNA mismatch repair gene HMSH2 in breast cancer occurence and progression. Poplawski T, etal., Breast Cancer Res Treat. 2005 Dec;94(3):199-204.
41. Tissue microarray analysis of hMSH2 expression predicts outcome in men with prostate cancer. Prtilo A, etal., J Urol. 2005 Nov;174(5):1814-8; discussion 1818.
42. [Expression and significance of hMSH2 protein in laryngeal squamous cell carcinoma]. Ren Y, etal., Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2013 Sep;27(18):986-8.
43. Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. Rey JM, etal., Cancer Genet Cytogenet. 2004 Dec;155(2):149-51.
44. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
45. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
46. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
47. Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. Skeldon SC, etal., Eur Urol. 2013 Feb;63(2):379-85. doi: 10.1016/j.eururo.2012.07.047. Epub 2012 Aug 2.
48. Mismatch repair gene polymorphisms and association with lung cancer development. Slováková P, etal., Adv Exp Med Biol. 2015;833:15-22. doi: 10.1007/5584_2014_83.
49. Promoter methylation status of MGMT, hMSH2, and hMLH1 and its relationship to corresponding protein expression and TP53 mutations in human esophageal squamous cell carcinoma. Su Y, etal., Med Oncol. 2014 Feb;31(2):784. doi: 10.1007/s12032-013-0784-4. Epub 2013 Dec 24.
50. Germline truncating mutations in both MSH2 and BRCA2 in a single kindred. Thiffault I, etal., Br J Cancer. 2004 Jan 26;90(2):483-91.
51. Microsatellite instability and loss of heterozygosity have distinct prognostic value for testicular germ cell tumor recurrence. Velasco A, etal., Cancer Biol Ther. 2004 Nov;3(11):1152-8; discussion 1159-61. Epub 2004 Nov 9.
52. Mismatch repair gene Msh2 modifies the timing of early disease in Hdh(Q111) striatum. Wheeler VC, etal., Hum Mol Genet. 2003 Feb 1;12(3):273-81.
53. DNMT1 promotes cell proliferation via methylating hMLH1 and hMSH2 promoters in EGFR-mutated non-small cell lung cancer. Wu XY, etal., J Biochem. 2020 Aug 1;168(2):151-157. doi: 10.1093/jb/mvaa034.
54. Comparative study of mutations in SNP loci of K-RAS, hMLH1 and hMSH2 genes in neoplastic intestinal polyps and colorectal cancer. Yan ZH, etal., World J Gastroenterol. 2014 Dec 28;20(48):18338-45. doi: 10.3748/wjg.v20.i48.18338.
Additional References at PubMed
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