COCA1
MCID: LYN001
MIFTS: 70

Lynch Syndrome (COCA1) malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases categories

Summaries for Lynch Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 Lynch syndrome is an inherited condition that causes an increased risk of developing cancer. individuals with lynch syndrome have a higher risk of developing colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. women with lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with lynch syndrome may occasionally have colon polyps. lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the mlh1, msh2, msh6, pms2 or epcam gene. last updated: 10/18/2013

MalaCards: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to colorectal cancer and colon cancer. An important gene associated with Lynch Syndrome is PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)), and among its related pathways are Busulfan Pathway, Pharmacodynamics and Doxorubicin Pathway, Pharmacokinetics. The compounds 6 thioguanine and mnng have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and brain, and related mouse phenotypes are integument and endocrine/exocrine gland.

Wikipedia:66 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic... more...

Description from OMIM:48 613244,120435,609310

GeneReviews summary for hnpcc

Aliases & Classifications for Lynch Syndrome

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9Disease Ontology, 66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 48OMIM, 59SNOMED-CT, 36MeSH
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Classifications:



Aliases & Descriptions:

lynch syndrome 9 66 20 44 21 23 22 11 46
hereditary nonpolyposis colorectal cancer 9 66 44 22 63
hnpcc 66 20 44 22
familial nonpolyposis colon cancer 66 44 22
colon cancer, familial nonpolyposis 66 44
cancer family syndrome 66 22
lynch syndrome 2 44 23
lynch syndrome 1 44 23
colorectal cancer, hereditary nonpolyposis, type 1 63
hereditary defective mismatch repair syndrome 9
hnpcc - hereditary nonpolyposis colon cancer 9
hereditary non-polyposis colon cancer type 1 9
hereditary nonpolyposis colorectal neoplasms 22
hereditary nonpolyposis colorectal neoplasm 9
colorectal cancer, hereditary nonpolyposis 44
hereditary non-polyposis colon cancer 20
hereditary nonpolyposis colon cancer 46
lynch cancer family syndrome 2 63
lynch syndrome ii 46
lynch syndrome i 46
coca 1 9
coca1 44


External Ids:

Disease Ontology9 DOID:3883
SNOMED-CT59 315058005
MeSH36 D003123

Related Diseases for Lynch Syndrome

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Sources:
18GeneCards, 19GeneDecks
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Diseases in the Lynch Syndrome family:

Mlh1-Related Lynch Syndrome Msh2-Related Lynch Syndrome
Msh6-Related Lynch Syndrome Pms2-Related Lynch Syndrome
Epcam-Related Lynch Syndrome Mlh3-Related Lynch Syndrome
Pms1-Related Lynch Syndrome

Diseases related to Lynch Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 108)
idRelated DiseaseScoreTop Affiliating Genes
1colorectal cancer31.4MLH1, PMS2, PMS1, EPCAM, MSH6, MSH2
2colon cancer30.7MLH1, EPCAM, MSH6, MSH2
3adenoma30.7MLH1, PMS2, BRCA1, MSH6, MSH2
4breast cancer30.7BRCA1, BRCA2
5familial colorectal cancer30.6MLH1, BRCA2, BRCA1, MSH6, MSH2
6male breast cancer30.5BRCA1, BRCA2
7familial adenomatous polyposis30.4MLH1, PMS2, PMS1, BRCA1, MSH6, MSH2
8retinoblastoma30.4PMS1, BRCA2, BRCA1, EPCAM
9adenocarcinoma30.4MLH1, PMS2, BRCA2, BRCA1, EPCAM, MSH6
10turcot syndrome30.3MLH1, PMS2
11ovarian cancer30.3MLH1, PMS2, BRCA2, BRCA1, EPCAM, MSH6
12muir-torre syndrome30.3MSH2, MSH6, MLH1
13endometrial carcinoma30.3MLH1, BRCA2, BRCA1, MSH6, MSH2
14transitional cell carcinoma30.3MSH2, MLH1
15melanoma30.3MLH1, PMS2, PMS1, BRCA2, EPCAM, MSH2
16prostate cancer30.3PMS2, PMS1, BRCA2, BRCA1, EPCAM, MSH6
17neurofibromatosis30.1MLH1, PMS2, BRCA2, MSH6, MSH2
18pancreatic cancer30.1MLH1, BRCA2, BRCA1, EPCAM, MSH2
19keratoacanthoma30.0MLH1, MSH2
20li-fraumeni syndrome30.0BRCA2, BRCA1
21sarcoma29.9MSH2, BRCA2, MLH1
22colorectal cancer, hereditary nonpolyposis, type 810.5
23colorectal cancer, hereditary nonpolyposis, type 510.5
24colorectal cancer, hereditary nonpolyposis, type 610.5
25colorectal cancer, hereditary nonpolyposis, type 210.5
26colorectal cancer, hereditary nonpolyposis, type 410.5
27colorectal cancer, hereditary nonpolyposis, type 710.5
28small bowel adenocarcinoma10.5
29colorectal adenoma10.4
30prostatitis10.4
31hereditary hemorrhagic telangiectasia10.3
32follicular lymphoma10.3
33uterine carcinosarcoma10.3
34duodenitis10.3
35lymphoepithelioma-like carcinoma10.3
36liposarcoma10.3
37non-hodgkin lymphoma10.3
38pleomorphic rhabdomyosarcoma10.3
39rhabdomyosarcoma10.3
40attenuated familial adenomatous polyposis10.3
41ciliary dyskinesia, primary, 2710.3
42colorectal cancer, hereditary nonpolyposis, type 110.3
43desmoid tumor10.3
44fibromatosis10.3
45gastric cancer, somatic10.3
46colorectal adenocarcinoma10.2
47endometriosis10.2
48pancreatitis10.2
49peritonitis10.2
50mlh1-related lynch syndrome10.2

Graphical network of the top 20 diseases related to Lynch Syndrome:



Diseases related to lynch syndrome

Symptoms for Lynch Syndrome

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48OMIM
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Clinical features from OMIM:

613244,120435,609310

Drugs & Therapeutics for Lynch Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Lynch Syndrome

Drug clinical trials:

Search ClinicalTrials for Lynch Syndrome

Search NIH Clinical Center for Lynch Syndrome

Search CenterWatch for Lynch Syndrome

Genetic Tests for Lynch Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Lynch Syndrome:

id Genetic test Affiliating Genes
1 Lynch Syndrome21 23
2 Lynch Syndrome Ii23
3 Lynch Syndrome I23

Anatomical Context for Lynch Syndrome

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34MalaCards
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MalaCards organs/tissues related to Lynch Syndrome:

34
Colon, Testes, Brain, Small intestine, Skin, Prostate, Ovary, Liver, Breast, Kidney, Thyroid, Lung, Pancreas

Animal Models for Lynch Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Lynch Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107717.7MSH6, MSH2, BRCA2, BRCA1, MLH1
2MP:00053797.6EPCAM, MLH1, BRCA1, BRCA2, PMS2
3MP:00053877.5BRCA2, BRCA1, EPCAM, MSH2, PMS2
4MP:00053817.3MSH2, BRCA1, EPCAM, BRCA2, PMS2, MLH1
5MP:00053977.2MSH2, EPCAM, BRCA1, BRCA2, PMS2
6MP:00020067.1MSH6, PMS2, PMS1, BRCA2, BRCA1, MSH2
7MP:00053846.9MLH1, PMS2, BRCA2, BRCA1, EPCAM, MSH6
8MP:00053766.9EPCAM, MLH1, PMS2, BRCA2, BRCA1, MSH6
9MP:00107686.8MLH1, BRCA2, BRCA1, EPCAM, MSH6, PMS2

Publications for Lynch Syndrome

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53PubMed
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Articles related to Lynch Syndrome:

(show top 50)    (show all 560)
idTitleAuthorsYear
1
Estimating successive cancer risks in Lynch Syndrome families using a progressive three-state model. (23946183)
2014
2
Early detection of metachronous bile duct cancer in Lynch syndrome: report of a case. (23896635)
2013
3
Prevalence of Lynch Syndrome among Patients with Newly Diagnosed Endometrial Cancers. (24244552)
2013
4
Colorectal cancer: Update on the clinical management of Lynch syndrome. (23609465)
2013
5
The role of epigenetics in Lynch syndrome. (23462881)
2013
6
Colorectal surveillance in Lynch syndrome families. (23525799)
2013
7
Value-based healthcare in Lynch syndrome. (23681793)
2013
8
New genetic variants of genes MMR in a Spanish family with Lynch syndrome. (23224667)
2013
9
Risks of colorectal and other cancers after endometrial cancer for women with Lynch syndrome. (23385444)
2013
10
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. (22883484)
2013
11
Prospective multicenter randomized intermediate biomarker study of oral contraceptive versus depo-provera for prevention of endometrial cancer in women with Lynch syndrome. (23639481)
2013
12
Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. (21520036)
2012
13
Quality of life after surgery for colon cancer in patients with Lynch syndrome: partial versus subtotal colectomy. (22595844)
2012
14
Lynch syndrome in a predominantly Afrocentric population: a clinicopathological and genetic study. (22854115)
2012
15
The molecular basis of EPCAM expression loss in Lynch syndrome-associated tumors. (22388758)
2012
16
Lynch syndrome diagnostics: decision-making process for germ-line testing. (22484632)
2012
17
Q48P mutation in the hMLH1 gene associated with Lynch syndrome in three Hungarian families. (22395473)
2012
18
Pathogenicity of A600V variant in exon 12 of the MSH2 gene detected in a Japanese kindred with Lynch syndrome. (22086974)
2012
19
Cervical adenocarcinoma in a patient with Lynch syndrome, Muir-Torre variant. (22124091)
2012
20
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. (22167527)
2012
21
Cancer: Lynch syndrome--how should colorectal cancer be managed? (21460875)
2011
22
Testing women with endometrial cancer to detect Lynch syndrome. (21537049)
2011
23
Prospective study of combined colon and endometrial cancer screening in women with lynch syndrome: a patient-centered approach. (21532810)
2011
24
Analysis of EPCAM protein expression in diagnostics of Lynch syndrome. (21115857)
2011
25
Bayesian modeling for genetic anticipation in presence of mutational heterogeneity: a case study in Lynch syndrome. (21627626)
2011
26
Association between Lynch syndrome and renal carcinoma. (21951127)
2011
27
De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one. (20473912)
2011
28
On the advent of MSI testing of all colorectal cancers and a substantial part of other Lynch syndrome-related neoplasms. (20465492)
2010
29
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. (19635727)
2010
30
Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. (20706999)
2010
31
Comparison of extended colectomy and limited resection in patients with Lynch syndrome. (20010355)
2010
32
Frequency of extracolonic tumors in Brazilian families with Lynch syndrome: analysis of a hereditary colorectal cancer institutional registry. (20697958)
2010
33
Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome. (19672700)
2009
34
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. (19250818)
2009
35
Molecular screening for Lynch syndrome: from bench to bedside. (19858372)
2009
36
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. (19459153)
2009
37
Identifying Lynch syndrome. (19536819)
2009
38
The identification of Lynch syndrome in British Columbia. (19893772)
2009
39
Commentary: The shifting role of family history in Lynch syndrome diagnosis. (19508539)
2009
40
Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. (19215248)
2009
41
Lynch syndrome in women less than 50 years of age with endometrial cancer. (18448750)
2008
42
The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)
2008
43
Sessile serrated polyps of the colorectum are rare in patients with Lynch syndrome and in familial colorectal cancer families. (17929199)
2008
44
Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome. (18672142)
2008
45
Review article: The Lynch syndrome (hereditary nonpolyposis colorectal cancer). (18081655)
2007
46
Need of new clinical criteria for the identification of genetic Lynch syndrome]. (18331697)
2007
47
Prospective results of surveillance colonoscopy in dominant familial colorectal cancer with and without Lynch syndrome. (16762622)
2006
48
p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. (16203772)
2005
49
Review of the molecular genetics of the Lynch syndrome]. (9650415)
1998
50
Overview of natural history, pathology, molecular genetics and management of HNPCC (Lynch Syndrome). (8600057)
1996

Variations for Lynch Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Lynch Syndrome:

1 (show all 38)
id Gene Name Type Significance SNP ID Assembly Location
1MLH1NM_000249.3(MLH1): c.755C> A (p.Ser252Ter)single nucleotide variantPathogenicrs63750198GRCh37Chr 3, 37056000: 37056000
2MLH1NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)single nucleotide variantPathogenicrs63751109GRCh37Chr 3, 37038124: 37038124
3MLH1NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)deletionPathogenicrs63751247GRCh37Chr 3, 37089130: 37089132
4MLH1NM_000249.3(MLH1): c.986A> C (p.His329Pro)single nucleotide variantPathogenicrs63750710GRCh37Chr 3, 37061902: 37061902
5MLH1NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs63751615GRCh37Chr 3, 37053589: 37053589
6MLH1NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)single nucleotide variantPathogenicrs63750206GRCh37Chr 3, 37038192: 37038192
7MLH1NM_000249.3(MLH1): c.1733A> G (p.Glu578Gly)single nucleotide variantBenign, Pathogenicrs63751612GRCh37Chr 3, 37089011: 37089011
8MLH1NM_000249.3(MLH1): c.350C> T (p.Thr117Met)single nucleotide variantPathogenicrs63750781GRCh37Chr 3, 37045935: 37045935
9MLH1NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser)single nucleotide variantPathogenicrs63750899GRCh37Chr 3, 37090053: 37090053
10MLH1NM_000249.3(MLH1): c.806C> G (p.Ser269Ter)single nucleotide variantPathogenicrs63750691GRCh37Chr 3, 37059012: 37059012
11MLH1NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr)single nucleotide variantPathogenicrs63750217GRCh37Chr 3, 37090446: 37090446
12MLH1NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn)indelPathogenicrs121912965GRCh37Chr 3, 37035142: 37035143
13MLH1NM_000249.3(MLH1): c.200G> A (p.Gly67Glu)single nucleotide variantPathogenicrs63749939GRCh37Chr 3, 37038193: 37038193
14MSH2NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)single nucleotide variantPathogenicrs28929483GRCh37Chr 2, 47702269: 47702269
15MSH2NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)single nucleotide variantPathogenicrs63751108GRCh37Chr 2, 47657020: 47657020
16MSH2NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs28929484GRCh37Chr 2, 47702319: 47702319
17MSH2NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)deletionPathogenicrs63749831GRCh37Chr 2, 47702190: 47702192
18MSH2NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)single nucleotide variantPathogenicrs63750047GRCh37Chr 2, 47702205: 47702205
19MSH2NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)single nucleotide variantLikely pathogenic, Pathogenicrs63751207GRCh37Chr 2, 47693857: 47693857
20MSH2NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)deletionPathogenicrs63749811GRCh37Chr 2, 47703613: 47703613
21MSH2NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)duplicationPathogenicGRCh37Chr 2, 47635597: 47635618
22MSH2NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)deletionPathogenicrs63751449GRCh37Chr 2, 47637320: 47637320
23MSH2nsv513794deletionPathogenic
24MSH2NG_007110.2: g.4247_24291deldeletionPathogenicGRCh38Chr 2, 47402370: 47422414
25MLH1NM_000249.3(MLH1): c.793C> T (p.Arg265Cys)single nucleotide variantPathogenic, Uncertain significancers63751194GRCh37Chr 3, 37058999: 37058999
26MLH1NM_000249.3(MLH1): c.1865T> A (p.Leu622His)single nucleotide variantPathogenicrs63750693GRCh37Chr 3, 37089143: 37089143
27MSH2NM_000251.2(MSH2): c.942+3A> Tsingle nucleotide variantPathogenicrs193922376GRCh37Chr 2, 47641560: 47641560
28MSH6NM_000179.2(MSH6): c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)deletionPathogenic, Uncertain significanceGRCh37Chr 2, 48030772: 48030774
29MLH1NM_000249.3(MLH1): c.306+5G> Asingle nucleotide variantPathogenicrs267607735GRCh37Chr 3, 37042549: 37042549
30MSH2NM_000251.2(MSH2): c.1457_1460delATGA (p.Asn486Thrfs)deletionPathogenicGRCh37Chr 2, 47690240: 47690243
31MSH2NM_000251.2(MSH2): c.1662-1G> Asingle nucleotide variantPathogenicrs267607970GRCh37Chr 2, 47698103: 47698103
32MSH2NM_000251.2(MSH2): c.2006-5T> Asingle nucleotide variantPathogenic, Uncertain significancers267607990GRCh37Chr 2, 47703501: 47703501
33PMS2NM_000535.5(PMS2): c.1306dupA (p.Ser436Lysfs)duplicationPathogenicrs63750106GRCh37Chr 7, 6027090: 6027090
34PMS2NM_000535.5(PMS2): c.400C> T (p.Arg134Ter)single nucleotide variantPathogenicrs63750871GRCh37Chr 7, 6042221: 6042221
35PMS2NM_000535.5(PMS2): c.1221delG (p.Thr408Leufs)deletionPathogenicGRCh37Chr 7, 6027175: 6027175
36PMS2NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)single nucleotide variantPathogenicrs63751466GRCh37Chr 7, 6017260: 6017260
37PMS2NM_000535.5(PMS2): c.1882C> T (p.Arg628Ter)single nucleotide variantPathogenicrs63750451GRCh37Chr 7, 6026514: 6026514
38PMS2NM_000535.5(PMS2): c.137G> T (p.Ser46Ile)single nucleotide variantLikely pathogenic, Pathogenic, Uncertain significancers121434629GRCh37Chr 7, 6045549: 6045549

Expression for genes affiliated with Lynch Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lynch Syndrome

Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for genes affiliated with Lynch Syndrome

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Sources:
51PathCards, 52PharmGKB, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 31KEGG, 61Thomson Reuters, 13EMD Millipore, 5Cell Signaling Technology
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Pathways related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 18)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Catalytic cycle of mammalian FMOs39
9.6MSH2, MLH1
2
Show member pathways
9.6MSH2, MLH1
39.2MSH2, MSH6, MLH1
4
Show member pathways
Signal transduction PTEN pathway61
9.2MSH2, MSH6, MLH1
59.1MLH1, PMS2, MSH2
6
Show member pathways
9.0BRCA1, BRCA2
7
Show member pathways
9.0BRCA2, BRCA1
8
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
8.8BRCA1, MSH6, MSH2
9
Show member pathways
8.7BRCA1, BRCA2, MLH1
10
Show member pathways
Signaling Pathways in Glioblastoma39
8.6MSH6, BRCA1, BRCA2
118.6MSH2, MSH6, BRCA2, MLH1
12
Show member pathways
8.2MSH2, MSH6, BRCA1, BRCA2
138.2BRCA2, BRCA1, MSH6, MSH2
14
Show member pathways
8.2BRCA2, BRCA1, MSH6, MSH2
158.1BRCA1, BRCA2, PMS2, MLH1
167.8MLH1, BRCA2, BRCA1, MSH6, MSH2
17
Show member pathways
7.8MLH1, BRCA2, BRCA1, MSH6, MSH2
18
Show member pathways
7.5MSH2, MSH6, BRCA1, PMS1, PMS2, MLH1

Compounds for genes affiliated with Lynch Syndrome

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46Novoseek, 12DrugBank, 25HMDB, 52PharmGKB, 62Tocris Bioscience, 30IUPHAR
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Compounds related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 39)
idCompoundScoreTop Affiliating Genes
16 thioguanine4610.0MSH2, MLH1
2mnng469.9MLH1, MSH2
3temozolomide46 1210.9MSH2, MLH1
4mhs-2469.7PMS1, PMS2, MLH1
5n-methyl-n-nitrosourea469.6MLH1, MSH6, MSH2
6mononucleotide469.6MSH2, MSH6, MLH1
7sodium bisulfite469.6BRCA1, MLH1
85-methylcytosine46 2510.6MLH1, BRCA1
9platinum46 5210.5BRCA1, MLH1
10oxaliplatin46 52 1211.3BRCA1, MLH1
118-oxoguanine469.3BRCA2, BRCA1
12daidzein469.3BRCA2, BRCA1
135-aza-2deoxycytidine469.3MLH1, PMS1, BRCA1
14lycopene46 2510.3BRCA1, BRCA2
15carboplatin46 52 1211.2MLH1, BRCA1, MSH2
16thymidylate469.2MLH1, BRCA1, MSH2
17indole-3-carbinol469.2BRCA2, BRCA1
18adenine46 25 1211.2MSH2, BRCA1, MLH1
19methylmethanesulfonate469.1BRCA1, BRCA2
20crcs469.1MLH1, PMS2, MSH6, MSH2
21biotin46 25 1211.1MLH1, PMS2, MSH6, MSH2
22o6-methylguanine469.0MSH2, MSH6, BRCA2, MLH1
234-hydroxytamoxifen469.0BRCA1, BRCA2
24p002469.0BRCA1, BRCA2, MLH1
25camptothecin46 62 1211.0MLH1, BRCA2, BRCA1
26folate469.0MLH1, BRCA2, BRCA1
27polyacrylamide469.0MLH1, BRCA2, BRCA1
28bleomycin46 129.9BRCA2, BRCA1
29etoposide46 52 62 1211.9MLH1, BRCA2, BRCA1
30paclitaxel46 52 1210.9BRCA1, BRCA2, MLH1
31doxorubicin46 52 1210.8MLH1, BRCA1, MSH6, MSH2
325fluorouracil468.7MSH2, EPCAM, BRCA1, MLH1
33h2o2468.7BRCA1, BRCA2, MLH1
34proline468.6MSH2, BRCA1, BRCA2, MLH1
35p003468.5EPCAM, BRCA1, BRCA2, MLH1
36thymidine46 259.5EPCAM, BRCA1, BRCA2, MLH1
37progesterone46 30 62 25 1212.4BRCA1, BRCA2, MLH1
38cisplatin46 52 62 1211.2MLH1, BRCA2, BRCA1, MSH6, MSH2
39paraffin467.2MSH2, MLH1, PMS2, BRCA2, BRCA1, EPCAM

GO Terms for genes affiliated with Lynch Syndrome

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17Gene Ontology
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Cellular components related to Lynch Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1MutSalpha complexGO:0323019.5MSH2, MSH6
2nuclear chromosomeGO:0002289.3MSH6, MSH2
3mismatch repair complexGO:0323009.3PMS1, PMS2, MLH1
4MutLalpha complexGO:0323899.2PMS1, PMS2, MLH1
5nucleusGO:0056347.4MSH6, BRCA1, BRCA2, PMS1, PMS2, MLH1

Biological processes related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1meiotic mismatch repairGO:0007109.8MSH6, MSH2
2maintenance of DNA repeat elementsGO:0435709.8MSH2, MSH6
3positive regulation of helicase activityGO:0510969.8MSH2, MSH6
4negative regulation of DNA recombinationGO:0459109.8MSH6, MSH2
5determination of adult lifespanGO:0083409.7MSH2, MSH6
6isotype switchingGO:0451909.5MLH1, MSH6, MSH2
7somatic recombination of immunoglobulin gene segmentsGO:0164479.4MSH2, MSH6, PMS2
8postreplication repairGO:0063019.3BRCA1, MSH2
9response to X-rayGO:0101659.3BRCA2, MSH2
10intrinsic apoptotic signaling pathway in response to DNA damageGO:0086309.1MSH6, BRCA1, MLH1
11reciprocal meiotic recombinationGO:0071319.1MSH6, PMS1, PMS2, MLH1
12intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediatorGO:0427719.1MSH2, BRCA2
13somatic hypermutation of immunoglobulin genesGO:0164469.0MLH1, PMS2, MSH6, MSH2
14DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediatorGO:0069789.0BRCA1, BRCA2
15double-strand break repair via homologous recombinationGO:0007249.0BRCA1, BRCA2
16double-strand break repairGO:0063028.8MSH2, BRCA1, BRCA2
17mismatch repairGO:0062988.7MSH2, MSH6, PMS1, PMS2, MLH1
18ATP catabolic processGO:0062008.7MLH1, PMS2, PMS1, MSH6, MSH2
19DNA repairGO:0062818.4BRCA2, BRCA1, MSH6, MSH2

Molecular functions related to Lynch Syndrome according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1single thymine insertion bindingGO:0321439.8MSH2, MSH6
2oxidized purine DNA bindingGO:0323579.8MSH6, MSH2
3single guanine insertion bindingGO:0321429.8MSH6, MSH2
4MutLalpha complex bindingGO:0324059.8MSH2, MSH6
5four-way junction DNA bindingGO:0004009.7MSH2, MSH6
6ADP bindingGO:0435319.5MSH2, MSH6
7guanine/thymine mispair bindingGO:0321379.5MLH1, MSH6, MSH2
8mismatched DNA bindingGO:0309839.5PMS1, MSH6, MSH2
9MutSalpha complex bindingGO:0324079.5PMS1, PMS2, MLH1
10DNA-dependent ATPase activityGO:0080949.3MSH6, MSH2
11ATPase activityGO:0168878.7MLH1, PMS2, PMS1, MSH6, MSH2
12single-stranded DNA bindingGO:0036978.4MSH2, BRCA2, PMS1, PMS2, MLH1
13ATP bindingGO:0055248.4MLH1, PMS2, PMS1, MSH6, MSH2
14DNA bindingGO:0036778.3MSH2, BRCA1, PMS1, PMS2
15protein bindingGO:0055156.7MLH1, PMS2, BRCA2, BRCA1, EPCAM, MSH6

Products for genes affiliated with Lynch Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lynch Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet