Lynch Syndrome malady

Genetics Home Reference: Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is a type of inherited cancer of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with this disorder also have a high risk of cancer of the endometrium (lining of the uterus) and ovaries. 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. In individuals with this disorder, colon polyps occur at an earlier age than in the general population. Although the polyps do not occur in greater numbers than in the general population, they are more likely to become cancerous.¹⁷

MalaCards: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to colon carcinoma and colorectal cancer. An important gene associated with Lynch Syndrome is PMS1 (PMS1 postmeiotic segregation increased 1 (S. cerevisiae)), and among its related pathways are Pancreatic cancer and DNA damage ATM/ATR regulation of G1/S checkpoint. The drugs streptozocin and peginterferon alfa-2b and the compounds vincristine and p003 have been mentioned in the context of this disorder. Affiliated tissues include brain, small intestine and colon, and related mouse phenotypes are respiratory system and liver/biliary system.

NIH Rare Diseases: Lynch syndrome is an inherited cancer syndrome. Individuals with Lynch syndrome have an increased risk of developing colon and rectal cancer, as well as other types of 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.³⁰

Wikipedia: Lynch syndrome (HNPCC or Hereditary nonpolyposis colorectal cancer ) is an autosomal dominant genetic...⁴⁴ more...

GeneReviews summary for hnpcc

Aliases & Descriptions:

lynch syndrome 6 44 15 30 16 17 8 32 hereditary nonpolyposis colorectal cancer 6 44 30 17 8 43 hnpcc 44 15 30 16 17 familial nonpolyposis colon cancer 44 30 17 hereditary non-polyposis colon cancer 15 16 colon cancer, familial nonpolyposis 44 30 cancer family syndrome 44 17 coca 1 6 17 colorectal cancer, hereditary nonpolyposis, type 1 43 colorectal neoplasms, hereditary nonpolyposis 17 hereditary defective mismatch repair syndrome 6 hereditary non-polyposis colon cancer type 1 6 hnpcc - hereditary nonpolyposis colon cancer 6

hereditary nonpolyposis colorectal neoplasms 17 hereditary nonpolyposis colorectal neoplasm 6 colorectal cancer, hereditary nonpolyposis 30 hereditary nonpolyposis colon cancer 32 lynch cancer family syndrome 2 43 colorectal neoplasms 43 lynch syndrome ii 32 lynch syndrome 2 30 lynch syndrome 1 30 lynch syndrome i 32 colon carcinoma 43 coca1 30

Diseases related to lynch syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 455)

id	Related Disease	Score	Top Affiliating Genes
1	colon carcinoma	36.2	BRAF, BRCA1, RAD50, MSH2, MSH6, MLH1
2	colorectal cancer	31.9	MTHFR, MSH2, MLH1, GSTM1, GSTP1, GSTT1
3	ovarian cancer	31.8	NBN, BRCA1, BRCA2, RAD50, MRE11A, CDKN2B
4	turcot syndrome	30.6	MSH2, MSH6, MLH1, APC, PMS2
5	liposarcoma	30.5	MSH2, CDKN2A, MLH1, MDM2, FAS, TP53
6	neurofibromatosis	29.4	BRCA2, MSH2, MSH6, MLH1, KRAS, PMS2
7	non-hodgkin lymphoma	29.0	NBN, MSH2, CDKN2B, GSTM1, GSTT1, MDM2
8	adenomatous polyposis coli	28.9	MUTYH, MSH2, MLH1, APC, CCND1, TP53
9	fibrosarcoma	28.6	CDKN2A, MDM2, CCND1, IGF1, TP53, RNASEL
10	muir-torre syndrome	28.5	MUTYH, MSH2, MSH6, MLH1, GOLGA4, LRRFIP2
11	follicular lymphoma	28.2	NBN, BRCA1, BRCA2, MTHFR, MSH2, CDKN2B
12	breast cancer	27.8	BRCA1, BRCA2, AURKA, APC, CCND1, CYP1A1
13	keratoacanthoma	27.7	MSH2, MSH6, MLH1, TP53
14	cervical adenocarcinoma	26.8	BRAF, CDKN2A, FASLG, FAS, CCND1, TP53
15	glioblastoma	26.1	MSH2, CDKN2B, CDKN2A, MGMT, GSTP1, MDM2
16	hypoxia	26.1	NBN, BRAF, BRCA1, AURKA, MSH2, CDKN2A
17	familial adenomatous polyposis	26.0	BRAF, BRCA1, MUTYH, MSH2, MSH6, MLH1
18	ulcerative colitis	25.5	BRAF, MTHFR, CDKN2A, MLH1, MGMT, GSTM1
19	noma	25.0	BRAF, CDKN2A, MLH1, MDM2, APC, FAS
20	familial colorectal cancer	25.0	BRAF, MUTYH, AURKA, MSH2, MSH6, CDKN2A
21	polyposis	24.6	BRAF, BRCA1, BRCA2, MUTYH, MSH2, MSH6
22	peritonitis	24.3	BRCA1, BRCA2, MTHFR, CDKN2A, MLH1, GSTM1
23	cholesterol	23.1	MTHFR, CDKN2A, GSTM1, GSTT1, FASLG, FAS
24	endometrial carcinoma	22.8	BRAF, BRCA1, BRCA2, AURKA, MSH2, MSH3
25	duodenitis	22.6	BRAF, MSH2, MSH6, CDKN2A, MLH1, MGMT
26	inflammatory bowel disease	22.4	BRAF, BRCA1, MTHFR, MSH2, CDKN2A, MLH1
27	thyroid cancer	22.4	NBN, BRAF, MUTYH, AURKA, MSH2, CDKN2B
28	hepatitis	22.4	BRAF, MTHFR, AURKA, MSH2, CDKN2A, MLH1
29	retinoblastoma	22.0	NBN, BRCA1, BRCA2, MTHFR, CDKN2B, CDKN2A
30	melanoma	21.9	NBN, BRAF, BRCA1, BRCA2, MUTYH, MSH2
31	hodgkin's lymphoma	21.6	NBN, BRAF, BRCA1, RAD50, MTHFR, AURKA
32	ovarian carcinoma	21.6	BRAF, BRCA1, BRCA2, MTHFR, AURKA, MSH2
33	endometrial cancer	21.3	BRAF, BRCA1, BRCA2, MUTYH, MTHFR, MSH2
34	sarcoma	21.2	BRAF, BRCA1, BRCA2, MTHFR, MSH2, CDKN2B
35	thyroid carcinoma	21.1	BRAF, MTHFR, AURKA, MSH3, CDKN2B, CDKN2A
36	adenoma	20.7	BRAF, BRCA1, MUTYH, MTHFR, MSH2, MSH6
37	hepatocellular carcinoma	20.1	BRAF, BRCA2, MUTYH, MTHFR, AURKA, MSH2
38	thyroiditis	19.2	NBN, BRAF, MUTYH, MTHFR, AURKA, MSH2
39	cervicitis	19.0	BRAF, BRCA1, BRCA2, MTHFR, AURKA, MSH2
40	pancreatitis	18.6	NBN, BRAF, BRCA1, BRCA2, RAD50, MUTYH
41	colon cancer	18.5	BRAF, BRCA1, BRCA2, MUTYH, MTHFR, AURKA
42	adenocarcinoma	18.3	NBN, BRAF, BRCA1, BRCA2, MUTYH, MTHFR
43	carcinoma	18.0	NBN, BRAF, BRCA1, BRCA2, RAD50, MUTYH
44	gastric cancer	17.6	BRAF, BRCA1, BRCA2, RAD50, MUTYH, MTHFR
45	leukemia	17.4	NBN, BRAF, BRCA1, BRCA2, RAD50, MUTYH
46	prostatitis	16.8	NBN, BRAF, BRCA1, BRCA2, RAD50, MUTYH
47	small intestine carcinoma	13.8	MSH2, MSH6, MLH1
48	brca1 and brca2 hereditary breast and ovarian cancer	13.7	BRCA1, BRCA2
49	sebaceous gland neoplasm	13.7	MSH6, MLH1
50	colorectal cancer, somatic	13.7	BRAF, MLH3, APC

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 aldesleukin, capecitabine, floxuridine, interferon, interferon alfa 2-b, interferon alfa-2a, interferon alfa-2a,recombinant, interferon alfa-2b,recombinant, interferon alfa-3n,human leukocyte derived, interferon alfacon-1, interferon beta-1a,recombinant, interferon beta-1b,recombinant, interferon gamma-1b, mitomycin, oxaliplatin, peginterferon alfa-2a, peginterferon alfa-2b, streptozocin

Genetic tests related to lynch syndrome:

id	Genetic test	Affiliating Genes
1	Lynch Syndrome clinical/research	MSH2, MSH6, MLH1, MLH3, PMS1, PMS2, EPCAM

MalaCards organs/tissues related to lynch syndrome:

²²

MGI Mouse Phenotypes related to lynch syndrome:

²⁵ (show all 23)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	respiratory system phenotype	MP:0005388	10.1	E2F2, ITGA9, RAD50, BRCA1
2	liver/biliary system phenotype	MP:0005370	10.0	E2F2, TP53, RAD50
3	endocrine/exocrine gland phenotype	MP:0005379	9.4	PMS2, KRAS, FASLG, MLH3, CDKN2B, RAD50
4	renal/urinary system phenotype	MP:0005367	9.3	E2F2, KRAS, APC, CDKN2B, BRCA1, BRAF
5	digestive/alimentary phenotype	MP:0005381	9.2	PMS2, TGFBR2, KRAS, APC, MDM2, MLH1
6	pigmentation phenotype	MP:0001186	8.6	KRAS, TP53, FAS, APC, MDM2, CDKN2A
7	embryogenesis phenotype	MP:0005380	8.6	EPCAM, KRAS, COMT, TP73, APC, MDM2
8	normal phenotype	MP:0002873	8.3	E2F2, TGFBR2, KRAS, CYP1A1, IGF1, FASLG
9	reproductive system phenotype	MP:0005389	8.3	FASLG, CCND1, TP73, COMT, KRAS, PMS2
10	hematopoietic system phenotype	MP:0005397	8.2	CCND1, TP73, RNASEL, KRAS, PMS2, E2F2
11	immune system phenotype	MP:0005387	8.1	CCND1, TP53, COMT, KRAS, PMS2, E2F2
12	behavior/neurological phenotype	MP:0005386	7.7	FAS, TP73, PTPRG, CYP17A1, COMT, TGFBR2
13	limbs/digits/tail phenotype	MP:0005371	7.7	TP53, IGF1, FAS, APC, MDM2, MTHFR
14	nervous system phenotype	MP:0003631	7.5	CCND1, TP73, COMT, KRAS, E2F2, EPCAM
15	skeleton phenotype	MP:0005390	7.1	CCND1, IGF1, TP53, TP73, TGFBR2, FAS
16	vision/eye phenotype	MP:0005391	7.1	TP53, TP73, KRAS, TGFBR2, E2F2, CCND1
17	mortality/aging	MP:0010768	7.0	BRAF, E2F2, PMS2, TGFBR2, CYP17A1, TP73
18	cardiovascular system phenotype	MP:0005385	6.8	IGF1, TP53, TP73, CYP1A1, COMT, KRAS
19	growth/size phenotype	MP:0005378	6.2	FAS, CCND1, TP53, TP73, KRAS, TGFBR2
20	integument phenotype	MP:0010771	5.4	APC, FASLG, FAS, CCND1, IGF1, TP53
21	cellular phenotype	MP:0005384	5.3	APC, FASLG, FAS, CCND1, IGF1, TP53
22	tumorigenesis	MP:0002006	4.8	EPHX1, MSH2, AURKA, MUTYH, RAD50, BRCA2
23	homeostasis/metabolism phenotype	MP:0005376	3.5	EPHX1, EPCAM, PMS2, TGFBR2, KRAS, COMT

Articles related to lynch syndrome:

(show top 50)    (show all 137)

id	Title	Authors	Year	Affiliating Genes
1	Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients. (22371642)	Zahary M.N.... Ankathil R.	2012	MSH2, MLH1
2	A rapid and cell-free assay to test the activity of lynch syndrome- associated MSH2 and MSH6 missense variants. (22102614)	Drost M.... de Wind N.	2012	MSH2, MSH6
3	Analysis of EPCAM protein expression in diagnostics o f Lynch syndrome. (21115857)	Kloor M.... BlAoker H.	2011	EPCAM
4	Cancer risks associated with germline mutations in ML H1, MSH2, and MSH6 genes in Lynch syndrome. (21642682)	Bonadona V.... BonaA^ti-PelliAc C.	2011	MSH2, MLH1, MSH6
5	Novel MLH1 duplication identified in Colombian famili es with Lynch syndrome. (21233718)	Alonso-Espinaco V.... CastellvA--Bel S.	2011	MLH1
6	Characterization of new founder Alu-mediated rearrang ements in MSH2 gene associated with a Lynch syndrome phenotype. (21778331)	PAcrez-Cabornero L.... DurA!n DomA-nguez M.	2011	MSH2
7	De novo constitutional MLH1 epimutations confer early -onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivat ion of the epimutation on the paternal allele in one. (20473912)	Goel A.... Hitchins M.P.	2011	MLH1
8	Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional a nalysis report. (21136174)	Vogelsang M.... Komel R.	2011	MLH1
9	Characterization of two Ashkenazi Jewish founder muta tions in MSH6 gene causing Lynch syndrome. (21155762)	Raskin L.... Foulkes W.D.	2011	MSH6
10	Rapid Development of Colorectal Neoplasia in Patients With Lynch Syndrome. (21070872)	Edelstein D.L.... Giardiello F.M.	2010	MSH2, MLH1
11	Identification of Lynch syndrome mutations in the MLH 1-PMS2 interface that disturb dimerization and mismatch repair. (20533529)	Kosinski J.... Plotz G.	2010	MLH1, PMS2
12	Three novel germline mutations in MLH1 and MSH2 in fa milies with Lynch syndrome living on Jeju island, Korea. (21034533)	Kim Y.M.... Cho M.	2010	MSH2, MLH1
13	Lynch syndrome: the influence of environmental factor s on extracolonic cancer risk in hMLH1 c.C1528T mutation carriers and their mut ation-negative sisters. (20640520)	Blokhuis M.M.... Ramesar R.S.	2010	MLH1
14	One to 2-Year Surveillance Intervals Reduce Risk of C olorectal Cancer in Families With Lynch Syndrome. (20206180)	Vasen H.F.... Nagengast F.M.	2010	MSH2, MLH1, MSH6
15	A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome. (19911012)	Perera S.... Bapat B.	2010	MSH2
16	Point: justification for Lynch syndrome screening amo ng all patients with newly diagnosed colorectal cancer. (20495086)	Hampel H.	2010	MSH2, MSH6, PMS2
17	Taiwan hospital-based detection of Lynch syndrome dis tinguishes 2 types of microsatellite instabilities in colorectal cancers. (20045164)	Chang S.C.... Lin J.K.	2010	BRAF, MLH1
18	Fas ligand expression in lynch syndrome-associated co lorectal tumours. (19067240)	Koornstra J.J.... Kleibeuker J.H.	2009	FAS, FASLG
19	Unusual presentation of Lynch Syndrome. (19493351)	Yu V.P.... Shanley S.	2009	MLH1
20	Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a popu lation specific detection strategy of Lynch syndrome. (19526325)	Berginc G.... Glavac D.	2009	MSH2, MLH1, MSH6
21	Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. (19419416)	Tang R.... Hsieh L.L.	2009	MSH2, MLH1
22	Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome. (18987546)	Sparr J.A.... Syngal S.	2009	MSH2, MSH6
23	High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. (19459153)	Chong G.... Foulkes W.D.	2009	MSH2, MLH1, MSH6
24	Cumulative lifetime incidence of extracolonic cancers in Lynch syndrome: a report of 121 families with proven mutations. (19215248)	Barrow E.... Evans D.G.	2009	MSH2, MLH1, MSH6
25	Utility of p16 immunohistochemistry for the identification of Lynch syndrome. (19383812)	PayA! A.... Jover R.	2009	MLH1, CDKN2A
26	An interstitial deletion at 3p21.3 results in the genetic fusion of MLH1 and ITGA9 in a Lynch syndrome family. (19188145)	Meyer C.... Marschalek R.	2009	MSH2, MLH1, ITGA9
27	Role for genetic anticipation in Lynch syndrome. (19075283)	Nilbert M.... Larsen K.	2009	MSH2, MLH1, MSH6
28	Quantitative PCR high-resolution melting (qPCR-HRM) c urve analysis, a new approach to simultaneously screen point mutations and larg e rearrangements: application to MLH1 germline mutations in Lynch syndrome. (19224586)	Rouleau E.... Lidereau R.	2009	MLH1
29	Efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability. (19424639)	Nakagawa H.... Matsubara N.	2009	BRAF, MLH1
30	Novel approaches in evaluation of pathogenicity of single-base exonic germline changes involving the mismatch repair genes MLH1 and MSH2 in diagnostics of Lynch syndrome. (18999873)	Gerykova-Bujalkova M.... Bartosova Z.	2008	MSH2, MLH1
31	Redundant DNA methylation in colorectal cancers of Lynch-syndrome patients. (18618713)	Alemayehu A.... Fridrichova I.	2008	MSH2, MLH1
32	Lynch syndrome and related familial colorectal cancers. (19105568)	Abdel-Rahman W.M.... PeltomAoki P.	2008	MSH2, MSH6, PMS2
33	A prospective, multicenter, population-based study of BRAF mutational analysis for Lynch syndrome screening. (18096441)	Bessa X.... Llor X.	2008	BRAF, MLH1
34	The Clinical Phenotype of Lynch Syndrome Because of Germ-Line PMS2 Mutations. (18602922)	Senter L.... de la Chapelle A.	2008	PMS2
35	The frequency of Muir-Torre syndrome among Lynch syndrome families. (18270343)	South C.D.... de la Chapelle A.	2008	MSH2, MLH1, MSH6
36	Lynch syndrome in a 15-year-old boy. (18183421)	Bodas A.... Diaz-Rubio E.	2008	MSH6, PMS2
37	Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. (18759827)	Julie C.... Hofmann-Radvanyi H.	2008	BRAF, MSH2, MLH1
38	Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. (17312306)	Lagerstedt Robinson K.... Lindblom A.	2007	BRAF, MSH2, MLH1
39	Cytochrome P450 17A1 and catechol O-methyltransferase polymorphisms and age at Lynch syndrome colon cancer onset in Newfoundland. (17606708)	Campbell P.T.... Woods M.O.	2007	COMT, CYP17A1
40	Need of new clinical criteria for the identification of genetic Lynch syndrome (18331697)	Sousa R.... Nobre-Leitao C.	2007	MSH2, MLH1, MSH6
41	The additive effect of p53 Arg72Pro and RNASEL Arg462Gln genotypes on age of disease onset in Lynch syndrome patients with pathogenic germline mutations in MSH2 or MLH1. (17224235)	Kruger S.... Schackert H.K.	2007	TP53, MSH2, MLH1
42	Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndrome. (17653898)	Rahner N.... Walldorf C.	2007	MSH2, MLH1, MSH6
43	Evidence for the role of aberrant DNA methylation in the pathogenesis of Lynch syndrome adenomas. (17278092)	Kaz A.... Grady W.M.	2007	MSH2, MLH1, CDKN2A
44	Genotype-phenotype comparison of German MLH1 and MSH2 mutation carriers clinically affected with Lynch syndrome: a report by the German HNPCC Consortium. (16908935)	Goecke T.... Moeslein G.	2006	MSH2, MLH1
45	Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients. (16885385)	Hampel H.... de la Chapelle A.	2006	MSH2, MLH1, MSH6
46	Lynch syndrome genes. (16136382)	Peltomaki P.	2005	MSH2, MLH1, MSH6
47	Women with synchronous primary cancers of the endometrium and ovary: do they have Lynch syndrome? (16361634)	Soliman P.T.... Lu K.H.	2005	MSH2, MLH1, MSH6
48	Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). (15872200)	Hampel H.... de la Chapelle A.	2005	MSH2, MLH1, MSH6
49	p53 codon 72 and MDM2 SNP309 polymorphisms and age of colorectal cancer onset in Lynch syndrome. (16203772)	Sotamaa K.... de la Chapelle A.	2005	MDM2, TP53
50	Three new mutations in hereditary nonpolyposis colorectal cancer (Lynch syndrome II) in Uruguay. (12660027)	Sarroca C.... Lynch H.T.	2003	MSH2, MLH1

Genes related to lynch syndrome according to GeneCards:

(show all 45)

id	Symbol	Description	Score	GeneCards Section Context
1	PMS1	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	11.1	Publications, Summaries
2	MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)	11.0	Publications
3	BRCA1	breast cancer 1, early onset	11.0
4	BRCA2	breast cancer 2, early onset	11.0
5	PMS2	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	11.0	Publications
6	MSH6	mutS homolog 6 (E. coli)	11.0	Publications
7	MSH2	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)	11.0	Publications
8	BRAF	v-raf murine sarcoma viral oncogene homolog B1	11.0	Publications
9	MUTYH	mutY homolog (E. coli)	11.0
10	APC	adenomatous polyposis coli	11.0	Publications
11	MLH3	mutL homolog 3 (E. coli)	11.0	Publications
12	EPCAM	epithelial cell adhesion molecule	11.0	Publications
13	E2F2	E2F transcription factor 2	11.0	Publications
14	C3orf35	chromosome 3 open reading frame 35	11.0
15	RNASEL	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	11.0	Publications
16	RNASE1	ribonuclease, RNase A family, 1 (pancreatic)	11.0	Publications
17	EPHX1	epoxide hydrolase 1, microsomal (xenobiotic)	11.0	Publications
18	LRRFIP2	leucine rich repeat (in FLII) interacting protein 2	11.0	Disorders, Publications
19	GOLGA4	golgin A4	11.0	Publications
20	MSH3	mutS homolog 3 (E. coli)	11.0	Publications
21	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)	11.0	Publications
22	TP73	tumor protein p73	11.0	Publications
23	NBN	nibrin	11.0	Publications
24	MRE11A	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	11.0	Publications
25	RAD50	RAD50 homolog (S. cerevisiae)	11.0	Publications
26	MDM2	Mdm2, p53 E3 ubiquitin protein ligase homolog (mouse)	11.0	Publications
27	CYP17A1	cytochrome P450, family 17, subfamily A, polypeptide 1	11.0	Publications
28	FASLG	Fas ligand (TNF superfamily, member 6)	11.0	Publications
29	CDKN2B	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	11.0	Publications
30	AURKA	aurora kinase A	11.0	Publications
31	ITGA9	integrin, alpha 9	11.0	Publications
32	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog	11.0	Publications
33	PTPRG	protein tyrosine phosphatase, receptor type, G	11.0	Publications
34	TP53	tumor protein p53	11.0	Publications
35	COMT	catechol-O-methyltransferase	11.0	Publications
36	CCND1	cyclin D1	11.0	Publications
37	CDKN2A	cyclin-dependent kinase inhibitor 2A	11.0	Publications
38	CYP1A1	cytochrome P450, family 1, subfamily A, polypeptide 1	11.0	Publications
39	MGMT	O-6-methylguanine-DNA methyltransferase	11.0	Publications
40	GSTM1	glutathione S-transferase mu 1	11.0	Publications
41	IGF1	insulin-like growth factor 1 (somatomedin C)	11.0	Publications
42	GSTT1	glutathione S-transferase theta 1	11.0	Publications
43	GSTP1	glutathione S-transferase pi 1	11.0	Publications
44	MTHFR	methylenetetrahydrofolate reductase (NAD(P)H)	11.0	Publications
45	FAS	Fas (TNF receptor superfamily, member 6)	11.0	Publications

Pathways related to lynch syndrome according to GeneDecks:

(show top 50)    (show all 56)

id	Pathway	Score	Top Affiliating Genes
1	Pancreatic cancer20	10.7	E2F2, BRCA2
2	DNA damage ATM/ATR regulation of G1/S checkpoint10	10.5	NBN, MDM2
3	Meiotic Recombination38	10.4	BRCA2, MLH1, MLH3
4	Colorectal cancer20	10.3	TGFBR2, MSH6, MSH3, MSH2, BRAF
5	Mismatch Repair in Eukaryotes36	10.3	PMS2, PMS1, MLH1, MSH6, MSH3, MSH2
6	Assembly of the RAD50-MRE11-NBS1 complex at DNA double-strand breaks38	10.3	MRE11A, RAD50, NBN
7	Fanconis Anaemia Pathway36	10.3	BRCA1, BRCA2, RAD50, MRE11A
8	Mismatch repair20	10.3	PMS2, MLH3, MLH1, MSH6, MSH3, MSH2
9	DNA damage_NHEJ mechanisms of DSBs repair41	10.2	MRE11A, RAD50, BRCA1, NBN
10	DNA damage NHEJ mechanisms of DSBs repair10	10.1	MRE11A, RAD50, BRCA1, NBN
11	Homologous recombination20	10.1	NBN, BRCA2, RAD50, MRE11A
12	p53 Signaling36	10.1	TP53, MDM2, BRCA1
13	Non-small cell lung cancer20	10.1	E2F2, KRAS, CDKN2A, BRAF
14	Chks in Checkpoint Regulation36	9.8	E2F2, TP53, MDM2, MRE11A, RAD50, BRCA1
15	ATM Pathway36	9.8	TP73, TP53, MDM2, MRE11A, RAD50, BRCA1
16	DNA damage_ATM/ATR regulation of G1/S checkpoint41	9.8	TP53, CCND1, MDM2, BRCA1, NBN
17	BRCA1 Pathway36	9.8	E2F2, TP53, MRE11A, MSH6, MSH2, RAD50
18	Thyroid cancer20	9.8	KRAS, TP53, CCND1, BRAF
19	Endometrial cancer20	9.8	KRAS, TP53, CCND1, APC, MLH1, BRAF
20	Glioblastoma Multiforme36	9.8	E2F2, TP53, APC, MDM2, MGMT, BRAF
21	Neurotrophin signaling pathway20	9.7	BRAF, FASLG, TP73
22	Cell cycle Regulation of G1/S transition (part 1)10	9.7	TGFBR2, CCND1, CDKN2A, CDKN2B, BRCA1
23	Cell cycle_Regulation of G1/S transition (part 1)41	9.7	TGFBR2, CCND1, CDKN2A, CDKN2B, BRCA1
24	G1-S Phase Transition36	9.6	E2F2, TP53, CCND1, CDKN2A, CDKN2B
25	Cyclins and Cell Cycle Regulation36	9.6	E2F2, TP53, CCND1, CDKN2A, CDKN2B
26	Selected targets of p5310	9.5	PMS2, TP53, APC, MGMT
27	DNA damage_Role of Brca1 and Brca2 in DNA repair41	9.5	TP53, MLH1, MRE11A, MSH6, MSH3, MSH2
28	DNA damage Role of Brca1 and Brca2 in DNA repair10	9.5	BRCA1, NBN, BRCA2, RAD50, TP53, MLH1
29	Signal transduction_AKT signaling41	9.5	MDM2, FASLG, CCND1, TP53
30	Colorectal Cancer Metastasis36	9.5	TGFBR2, TP53, CCND1, APC, MLH1, MSH6
31	Benzo[a]pyrene metabolism41	9.5	EPHX1, CYP1A1, GSTP1
32	Benzo[a]pyrene metabolism10	9.4	EPHX1, CYP1A1, GSTP1
33	Cell cycle20	9.4	E2F2, TP53, CCND1, MDM2, CDKN2A, CDKN2B
34	Bladder cancer20	9.4	E2F2, KRAS, TP53, CCND1, MDM2, CDKN2A
35	Busulfan Pathway, Pharmacodynamics34	9.2	GSTP1, GSTM1, MGMT, MLH1, MSH2
36	Chronic myeloid leukemia20	9.2	E2F2, TGFBR2, KRAS, TP53, CCND1, MDM2
37	DNA Damage3	8.9	TP73, TP53, MDM2, MGMT, MRE11A, MSH6
38	Platinum Pathway, Pharmacokinetics/Pharmacodynamics34	8.9	GSTM1, GSTP1, GSTT1
39	Glioma20	8.9	E2F2, KRAS, TP53, IGF1, CCND1, MDM2
40	Melanoma20	8.9	E2F2, KRAS, TP53, IGF1, CCND1, MDM2
41	Molecular Mechanisms of Cancer36	8.8	CCND1, TP53, TGFBR2, E2F2, APC, MDM2
42	Naphthalene metabolism41	8.8	GSTP1, GSTT1, CYP1A1, EPHX1, GSTM1
43	Naphthalene metabolism10	8.8	EPHX1, CYP1A1, GSTT1, GSTP1, GSTM1
44	DNA Repair Mechanisms36	8.8	TP53, IGF1, MDM2, MGMT, MRE11A, MSH6
45	Metabolism of xenobiotics by cytochrome P45020	8.7	EPHX1, CYP1A1, GSTT1, GSTP1, GSTM1
46	Pancreatic Adenocarcinoma36	8.7	E2F2, TGFBR2, TP53, IGF1, CCND1, MDM2
47	p53 signaling pathway20	8.7	TP73, TP53, IGF1, CCND1, FAS, MDM2
48	Prostate cancer20	8.6	E2F2, KRAS, TP53, IGF1, CCND1, MDM2
49	Pathways in cancer20	7.9	E2F2, TGFBR2, KRAS, TP53, CCND1, FAS
50	Cell Cycle / Checkpoint Control3	7.2	BRCA1, NBN, BRCA2, RAD50, MUTYH, TP73

Compounds related to lynch syndrome according to GeneDecks:

(show top 50)    (show all 192)

id	Compound	Score	Top Affiliating Genes
1	vincristine32 34 9 9	13.4	MGMT
2	p00332	10.3	EPHX1, EPCAM, MDM2, BRCA2, BRCA1
3	h2o232	10.2	RNASE1, BRCA2, BRCA1, MUTYH
4	mononucleotide32	9.3	MLH1, MGMT, APC, TGFBR2, NBN, RAD50
5	5-methylcytosine32 18	10.3	MLH1, MGMT, APC, TP53, CDKN2A, CDKN2B
6	7,12-dimethylbenz(a)anthracene32	9.3	BRCA2, CDKN2A, MGMT, MDM2, APC, CYP1A1
7	methylmethanesulfonate32	9.2	BRCA1, NBN, RAD50, BRCA2, MGMT, MDM2
8	8-oxoguanine32	9.1	BRCA1, BRCA2, MUTYH, MGMT, GSTM1, GSTT1
9	sodium bisulfite32	9.0	APC, GSTP1, MGMT, MLH1, CDKN2A, CDKN2B
10	progesterone32 42 9 18 9	13.0	CDKN2A, MGMT, CCND1, TP73, CYP17A1, APC
11	p0000132	8.8	EPHX1, BRAF, CCND1, MDM2, CDKN2A, MTHFR
12	arginine32	8.7	TP73, MDM2, GSTT1, MLH1, MRE11A, BRAF
13	mspi32	8.7	EPHX1, BRCA2, MGMT, GSTM1, GSTT1, APC
14	crcs32	8.7	PMS2, TGFBR2, KRAS, TP53, CCND1, APC
15	aflatoxin b132 18	9.6	EPHX1, TP53, MDM2, GSTT1, GSTM1, CDKN2A
16	adenine32 9 18 9	11.5	APC, MLH1, CDKN2A, MSH2, MTHFR, MUTYH
17	resveratrol32 9 18 9	11.4	BRCA1, BRCA2, EPHX1, CYP1A1, TP53, CCND1
18	etoposide32 42 9 9	11.4	MLH1, MGMT, GSTP1, MDM2, FASLG, FAS
19	carboplatin32 34 9 9	11.4	MGMT, BRCA1, MSH2, MLH1, MDM2, FASLG
20	bpde32	8.3	TP53, CYP1A1, EPHX1, MDM2, GSTT1, GSTP1
21	camptothecin32 42 9 9	11.2	MRE11A, RAD50, BRCA2, BRCA1, NBN, CDKN2A
22	benzo(a)pyrene32	8.2	EPHX1, TP53, GSTT1, MDM2, GSTM1, BRCA1
23	mitomycin c32	8.1	MDM2, GSTP1, NBN, BRCA1, TP53, FAS
24	o6-methylguanine32	8.1	BRAF, CDKN2B, CDKN2A, MLH1, MGMT, GSTP1
25	proline32	7.9	GSTT1, TP73, BRCA1, BRCA2, MSH2, MLH1
26	p00232	7.8	KRAS, GSTT1, MDM2, TP73, MLH1, MTHFR
27	irinotecan32 34 9 9	10.8	CDKN2A, MTHFR, BRAF, MLH1, MGMT, GSTP1
28	vegf32	7.8	MLH1, TP53, TGFBR2, KRAS, MGMT, IGF1
29	agarose32	7.7	GSTT1, TGFBR2, RNASE1, FAS, FASLG, BRCA1
30	tamoxifen32 34 9 9	10.7	BRCA1, EPHX1, TGFBR2, COMT, CYP17A1, BRCA2
31	adriamycin32	7.6	BRCA1, BRCA2, CDKN2A, GSTP1, MDM2, FASLG
32	5-aza-2deoxycytidine32	7.5	BRCA1, CDKN2B, CDKN2A, MLH1, MGMT, GSTP1
33	cycloheximide32	7.4	BRCA2, BRCA1, RNASEL, CYP17A1, CYP1A1, TP53
34	doxorubicin32 34 9 9	10.2	NBN, TP53, CCND1, FAS, FASLG, MDM2
35	methotrexate32 34 42 9 9	11.1	MDM2, MGMT, CDKN2A, CDKN2B, MTHFR, BRCA2
36	estrogen32	7.0	MGMT, EPHX1, TGFBR2, COMT, CYP17A1, PTPRG
37	thymidine32 18	7.9	TP53, IGF1, CYP17A1, EPCAM, CCND1, MTHFR
38	paclitaxel32 34 9 9	9.9	KRAS, TP53, CCND1, FAS, FASLG, MDM2
39	folate32	6.8	MTHFR, BRCA2, BRCA1, APC, CDKN2A, MLH1
40	paraffin32	6.8	MLH1, CDKN2A, MSH6, MSH2, BRCA2, BRCA1
41	genistein32 9 18 9	9.8	FASLG, BRCA1, BRCA2, CDKN2A, COMT, CYP17A1
42	valine32	6.7	CDKN2A, CYP1A1, COMT, CYP17A1, MDM2, GSTT1
43	oxaliplatin32 34 9 9	9.6	BRCA1, MTHFR, MLH1, MGMT, GSTM1, GSTP1
44	oligonucleotide32	6.5	CDKN2A, BRCA2, BRCA1, BRAF, MGMT, GSTT1
45	5fluorouracil32	6.4	KRAS, TP73, TP53, FAS, FASLG, MDM2
46	thymidylate32	6.3	MDM2, BRCA1, MTHFR, MSH2, CDKN2A, MLH1
47	cisplatin32 34 9 9	8.8	TP73, TP53, CCND1, FAS, FASLG, MDM2
48	testosterone32 9 18 9	8.7	CCND1, MDM2, APC, FASLG, FAS, CDKN2A
49	retinoic acid32 42 18	7.6	MGMT, MLH1, CDKN2A, CDKN2B, MTHFR, BRCA2
50	serine32	4.8	MSH2, AURKA, CCND1, IGF1, TP53, CYP1A1

Cellular components related to lynch syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	MutSbeta complex	GO:032302	10.1	MSH3, MSH2
2	Mre11 complex	GO:030870	10.1	MRE11A, RAD50, NBN
3	MutSalpha complex	GO:032301	10.0	MSH6, MSH2
4	nuclear body	GO:016604	9.7	CDKN2A, MDM2, TP53
5	nucleoplasm	GO:005654	8.3	NBN, E2F2, TP53, CCND1, MDM2, MGMT
6	nucleus	GO:005634	5.8	GSTP1, MDM2, APC, FASLG, FAS, CCND1
7	cytosol	GO:005829	5.4	APC, FAS, CCND1, TP53, COMT, RNASEL

Biological processes related to lynch syndrome according to GeneDecks:

(show all 31)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of helicase activity	GO:051096	10.5	MSH6, MSH3, MSH2
2	maintenance of DNA repeat elements	GO:043570	10.5	MSH6, MSH3, MSH2
3	negative regulation of DNA recombination	GO:045910	10.5	MSH6, MSH3, MSH2
4	isotype switching	GO:045190	10.4	NBN, MSH2, MSH6
5	DNA damage response, signal transduction resulting in induction of apoptosis	GO:008630	10.3	TP73, MSH6, BRCA1
6	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:006978	10.3	TP53, BRCA2, BRCA1
7	determination of adult lifespan	GO:008340	10.3	TP53, MSH6, MSH2
8	positive regulation of kinase activity	GO:033674	10.3	MRE11A, RAD50, NBN
9	positive regulation of protein autophosphorylation	GO:031954	10.3	RAD50, MRE11A, NBN
10	regulation of mitotic recombination	GO:000019	10.2	MRE11A, RAD50
11	response to X-ray	GO:010165	10.2	CCND1, MSH2, BRCA2
12	reciprocal meiotic recombination	GO:007131	10.2	MLH3, MRE11A, RAD50
13	double-strand break repair via homologous recombination	GO:000724	10.1	MRE11A, RAD50, BRCA2, BRCA1, NBN
14	positive regulation of cell cycle arrest	GO:071158	10.1	TP53, CDKN2A, BRCA1
15	mismatch repair	GO:006298	10.1	MUTYH, PMS2, TP73, MLH3, MSH6, MSH3
16	DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis	GO:042771	10.0	TP73, TP53, BRCA2
17	somatic recombination of immunoglobulin gene segments	GO:016447	10.0	MSH2, MSH6
18	DNA duplex unwinding	GO:032508	10.0	MRE11A, RAD50, NBN
19	inflammatory cell apoptotic process	GO:006925	9.9	FAS, FASLG
20	double-strand break repair	GO:006302	9.9	TP53, MRE11A, RAD50, BRCA2, BRCA1, NBN
21	B cell mediated immunity	GO:019724	9.9	MSH2, FAS
22	G1 phase of mitotic cell cycle	GO:000080	9.9	CDKN2B, CDKN2A, CCND1, E2F2
23	response to organic cyclic compound	GO:014070	9.8	EPHX1, COMT, CYP17A1, CCND1, MSH2
24	response to DNA damage stimulus	GO:006974	9.6	TP73, TP53, CCND1, APC, MRE11A, RAD50
25	cell cycle arrest	GO:007050	9.5	TP73, TP53, APC, CDKN2A, CDKN2B, MSH2
26	DNA repair	GO:006281	9.3	MGMT, MRE11A, MSH6, MSH3, MSH2, MUTYH
27	positive regulation of cell proliferation	GO:008284	9.2	EPCAM, TGFBR2, KRAS, IGF1, FASLG, MDM2
28	Ras protein signal transduction	GO:007265	9.1	KRAS, TP53, IGF1, CDKN2A
29	apoptotic process	GO:006915	9.0	E2F2, TGFBR2, TP53, FAS, FASLG, APC
30	xenobiotic metabolic process	GO:006805	8.8	COMT, CYP17A1, CYP1A1, GSTP1, GSTM1
31	response to drug	GO:042493	8.7	TGFBR2, COMT, CYP17A1, CCND1, FAS, APC

Molecular functions related to lynch syndrome according to GeneDecks:

(show all 17)

id	Name	GO ID	Score	Top Affiliating Genes
1	MutSalpha complex binding	GO:032407	10.4	MUTYH, MLH1, PMS2
2	oxidized purine DNA binding	GO:032357	10.4	MSH6, MSH3, MSH2
3	single guanine insertion binding	GO:032142	10.4	MSH6, MSH3, MSH2
4	guanine/thymine mispair binding	GO:032137	10.4	MSH6, MSH3, MSH2
5	MutLalpha complex binding	GO:032405	10.4	MSH6, MSH2, MUTYH
6	dinucleotide repeat insertion binding	GO:032181	10.3	MSH3, MSH2
7	centromeric DNA binding	GO:019237	10.3	MLH3, MSH3, MSH2
8	single thymine insertion binding	GO:032143	10.3	MSH6, MSH2
9	single-stranded DNA binding	GO:003697	10.2	PMS2, MLH1, MSH3, MSH2, BRCA2
10	mismatched DNA binding	GO:030983	10.2	MSH2, MSH3, MSH6, MLH1, MLH3, PMS1
11	ATP-dependent DNA helicase activity	GO:004003	10.0	NBN, RAD50, MRE11A
12	dinucleotide insertion or deletion binding	GO:032139	9.9	MSH3, MSH2
13	enzyme binding	GO:019899	9.5	TP53, CCND1, MDM2, MSH3, MSH2, BRCA1
14	protein kinase binding	GO:019901	9.1	TP73, TP53, CCND1, APC, CDKN2A, CDKN2B
15	ATP binding	GO:005524	8.9	PMS2, PMS1, TGFBR2, RNASEL, TP53, MLH3
16	glutathione transferase activity	GO:004364	8.8	GSTM1, GSTP1, GSTT1
17	protein binding	GO:005515	4.6	GOLGA4, IGF1, CCND1, FAS, FASLG, APC