Lynch Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: LYN001 MIFTS: 66	Lynch Syndrome Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

Sources

Aliases & Classifications for Lynch Syndrome

MalaCards integrated aliases for Lynch Syndrome:

Name: Lynch Syndrome ¹² ⁷⁷ ²⁵ ⁵⁴ ²⁶ ³⁰ ⁵⁶ ⁶ ¹⁵

Hereditary Nonpolyposis Colorectal Cancer ¹² ⁵⁴ ²⁶ ⁷⁴

Hereditary Nonpolyposis Colorectal Carcinoma ³⁰ ⁶ ⁷⁴

Hnpcc ²⁵ ⁵⁴ ²⁶

Hereditary Nonpolyposis Colorectal Neoplasms ²⁶ ⁷⁴

Hereditary Nonpolyposis Colon Cancer ⁵⁶ ⁶

Familial Nonpolyposis Colon Cancer ⁵⁴ ²⁶

Colorectal Cancer, Hereditary Nonpolyposis, Type 1 ⁷⁴

Hereditary Defective Mismatch Repair Syndrome ¹²

Colorectal Neoplasms, Hereditary Nonpolyposis ⁴⁵

Hnpcc - Hereditary Nonpolyposis Colon Cancer ¹²

Cancer, Colorectal, Nonpolyposis, Hereditary ⁴¹

Hereditary Nonpolyposis Colorectal Neoplasm ¹²

Colorectal Cancer, Hereditary Nonpolyposis ⁵⁴

Hereditary Non-Polyposis Colon Cancer ²⁵

Colon Cancer, Familial Nonpolyposis ⁵⁴

Cancer Family Syndrome ²⁶

Lynch Syndrome 1 ⁵⁴

Lynch Syndrome 2 ⁵⁴

Coca 1 ¹²

Coca1 ⁵⁴

Characteristics:

HPO:

³³

lynch syndrome:
Clinical modifier death in infancy death in early adulthood

GeneReviews:

²⁵

Penetrance Penetrance of crcs and extracolonic cancers associated with pathogenic variants in an mmr gene or epcam is less than 100% (see table 3). therefore, some individuals with a cancer-predisposing pathogenic variant in an mmr gene or epcam may never develop cancer...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Gastrointestinal diseases Skin diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3883

MeSH ⁴⁵ D003123

NCIt ⁵¹ C120083 C8494

SNOMED-CT via HPO ⁷⁰ 109841003 12184005 123843001 more

UMLS ⁷⁴ C0009405 C1333990 C2936783 more

Sources

Summaries for Lynch Syndrome

NIH Rare Diseases : ⁵⁴ Lynch syndromeis a genetic disorder that causes an increased risk of developing certain types of cancer such as 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. Treatment of colon cancer is surgical removal of the affected part of the colon (colectomy). People with Lynch syndrome should have routine colonoscopies.

MalaCards based summary : Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to lynch syndrome i and mismatch repair cancer syndrome. An important gene associated with Lynch Syndrome is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Lidocaine and Peripheral Nervous System Agents have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and skin, and related phenotypes are constipation and malabsorption

Disease Ontology : ¹² An autosomal dominant disease that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has material basis in mutation of mismatch repair genes that increases the risk of many types of cancers.

Genetics Home Reference : ²⁶ Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

Wikipedia : ⁷⁷ Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic... more...

GeneReviews: NBK1211

Sources

Related Diseases for Lynch Syndrome

Diseases in the Lynch Syndrome family:

Lynch Syndrome I

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

(show top 50) (show all 210)

#	Related Disease	Score	Top Affiliating Genes
1	lynch syndrome i	33.7	BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
2	mismatch repair cancer syndrome	32.9	APC MLH1 MSH2 MSH6 PMS1 PMS2
3	colorectal cancer, hereditary nonpolyposis, type 4	32.8	MLH1 MSH2 PMS2
4	colorectal cancer, hereditary nonpolyposis, type 7	32.8	MLH1 MLH3 MSH2
5	colorectal cancer, hereditary nonpolyposis, type 5	32.8	MLH1 MSH2 MSH6
6	muir-torre syndrome	32.7	MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
7	gastric cancer	32.1	APC KRAS MLH1 MSH2 MUTYH TGFBR2
8	ovarian cancer	31.4	BRAF BRCA1 BRCA2 EPCAM KRAS MLH1
9	appendix carcinoid tumor	30.9	MLH1 MSH2 MSH6 PMS2
10	adenocarcinoma	30.9	APC BRAF EPCAM KRAS MLH1 TGFBR2
11	attenuated familial adenomatous polyposis	30.7	APC MSH2 MSH6 MUTYH
12	familial colorectal cancer	30.7	APC MLH1 MSH2 MUTYH POLE TGFBR2
13	colorectal adenocarcinoma	30.5	BRAF KRAS MLH1 MSH2 MSH6 TP53
14	mutyh-associated polyposis	30.5	APC KRAS MUTYH TP53
15	hyperplastic polyposis syndrome	30.5	APC BRAF KRAS MUTYH TP53
16	testicular germ cell tumor	30.4	BRAF MSH2 TP53
17	familial adenomatous polyposis	30.4	APC KRAS MLH1 MSH2 MSH3 MSH6
18	transitional cell carcinoma	30.4	BRAF MSH2 TP53
19	adenoma	30.2	APC BRAF KRAS MLH1 MSH2 MUTYH
20	colon adenocarcinoma	30.1	APC KRAS MLH1 MSH6
21	rhabdomyosarcoma	30.1	BRCA1 MSH2 MSH6 PMS2 TP53
22	ovarian cancer 1	30.1	BRCA1 BRCA2 KRAS TP53
23	gastric adenocarcinoma	30.0	APC BRAF EPCAM KRAS MLH1 TGFBR2
24	lung cancer susceptibility 3	29.9	APC BRAF KRAS TGFBR2 TP53
25	colorectal adenoma	29.9	APC KRAS MLH1 MSH2 MUTYH TP53
26	li-fraumeni syndrome	29.9	BRCA1 BRCA2 MLH1 TP53
27	endometrial cancer	29.8	BRAF BRCA1 BRCA2 KRAS MLH1 MLH3
28	hereditary breast ovarian cancer syndrome	29.8	BRCA1 BRCA2 MLH1 MSH6 TP53
29	colorectal cancer	29.6	APC BRAF BRCA1 BRCA2 EPCAM KRAS
30	breast cancer	29.5	APC BRAF BRCA1 BRCA2 EPCAM KRAS
31	large intestine cancer	28.7	APC BRAF EPCAM KRAS MLH1 MLH3
32	pancreatic cancer	11.4
33	colorectal cancer, hereditary nonpolyposis, type 8	11.4
34	colorectal cancer, hereditary nonpolyposis, type 2	11.0
35	colorectal cancer, hereditary nonpolyposis, type 6	11.0
36	familial stomach cancer	11.0
37	spindle cell intraocular melanoma	10.5	MLH1 PMS2
38	nevus of ota	10.5	BRAF TP53
39	skin benign neoplasm	10.5	MLH1 MSH2 MSH6
40	keratoacanthoma	10.5	MLH1 MSH2 TP53
41	gastric leiomyoma	10.5	MLH1 MSH3 MSH6
42	adenosquamous colon carcinoma	10.5	MLH1 MSH2 MSH6 PMS2
43	sebaceous adenoma	10.5	MLH1 MSH2 MSH6 PMS2
44	lower lip cancer	10.5	MLH1 MSH2
45	anal squamous cell carcinoma	10.4	APC MLH1 TP53
46	lip cancer	10.4	MSH2 TP53
47	actinic cheilitis	10.4	MSH2 TP53
48	polyposis syndrome, hereditary mixed, 1	10.4	APC MLH1 MUTYH
49	sebaceous adenocarcinoma	10.4	MLH1 MSH2 MSH6 PMS1 PMS2
50	colorectal cancer 5	10.4	MLH1 MSH6

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

Sources

Symptoms & Phenotypes for Lynch Syndrome

Human phenotypes related to Lynch Syndrome:

³³ (show all 45)

#	Description	HPO Frequency	HPO Source Accession
1	constipation ³³	hallmark (90%)	HP:0002019
2	malabsorption ³³	hallmark (90%)	HP:0002024
3	fatigue ³³	hallmark (90%)	HP:0012378
4	abdominal pain ³³	hallmark (90%)	HP:0002027
5	weight loss ³³	hallmark (90%)	HP:0001824
6	colon cancer ³³	hallmark (90%)	HP:0003003
7	gastrointestinal hemorrhage ³³	hallmark (90%)	HP:0002239
8	glioblastoma multiforme ³³	hallmark (90%)	HP:0012174
9	depressivity ³³	frequent (33%)	HP:0000716
10	seizures ³³	frequent (33%)	HP:0001250
11	muscular hypotonia ³³	frequent (33%)	HP:0001252
12	nausea and vomiting ³³	frequent (33%)	HP:0002017
13	increased intracranial pressure ³³	frequent (33%)	HP:0002516
14	hypertonia ³³	frequent (33%)	HP:0001276
15	irritability ³³	frequent (33%)	HP:0000737
16	attention deficit hyperactivity disorder ³³	frequent (33%)	HP:0007018
17	anxiety ³³	frequent (33%)	HP:0000739
18	migraine ³³	frequent (33%)	HP:0002076
19	neoplasm of the rectum ³³	frequent (33%)	HP:0100743
20	dysarthria ³³	occasional (7.5%)	HP:0001260
21	gait disturbance ³³	occasional (7.5%)	HP:0001288
22	developmental regression ³³	occasional (7.5%)	HP:0002376
23	abnormal pyramidal sign ³³	occasional (7.5%)	HP:0007256
24	hallucinations ³³	occasional (7.5%)	HP:0000738
25	dyskinesia ³³	occasional (7.5%)	HP:0100660
26	flexion contracture ³³	occasional (7.5%)	HP:0001371
27	hemiplegia/hemiparesis ³³	occasional (7.5%)	HP:0004374
28	visual field defect ³³	occasional (7.5%)	HP:0001123
29	memory impairment ³³	occasional (7.5%)	HP:0002354
30	paresthesia ³³	occasional (7.5%)	HP:0003401
31	amaurosis fugax ³³	occasional (7.5%)	HP:0100576
32	benign neoplasm of the central nervous system ³³	occasional (7.5%)	HP:0100835
33	pituitary adenoma ³³	occasional (7.5%)	HP:0002893
34	dysgraphia ³³	occasional (7.5%)	HP:0010526
35	ovarian neoplasm ³³	occasional (7.5%)	HP:0100615
36	intestinal polyposis ³³	occasional (7.5%)	HP:0200008
37	pancreatic adenocarcinoma ³³	occasional (7.5%)	HP:0006725
38	neoplasm of the thyroid gland ³³	occasional (7.5%)	HP:0100031
39	neuroblastoma ³³	occasional (7.5%)	HP:0003006
40	hepatocellular carcinoma ³³	occasional (7.5%)	HP:0001402
41	neoplasm of the skeletal system ³³	occasional (7.5%)	HP:0010622
42	agnosia ³³	occasional (7.5%)	HP:0010524
43	basal cell carcinoma ³³	occasional (7.5%)	HP:0002671
44	cardiac diverticulum ³³	occasional (7.5%)	HP:0100571
45	urinary tract neoplasm ³³	occasional (7.5%)	HP:0010786

GenomeRNAi Phenotypes related to Lynch Syndrome according to GeneCards Suite gene sharing:

²⁷ (show all 48)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	10.63	LRRFIP2 PMS2
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	10.63	KRAS
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	10.63	MSH2
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	10.63	KRAS
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-123	10.63	POLE
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-125	10.63	EPCAM
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-137	10.63	LRRFIP2
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-151	10.63	MSH2
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-157	10.63	EPCAM
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-161	10.63	PMS2
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-168	10.63	EPCAM KRAS POLE
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	10.63	LRRFIP2
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-176	10.63	EPCAM MSH2
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-177	10.63	KRAS LRRFIP2
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-19	10.63	PMS2
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-196	10.63	KRAS
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-197	10.63	PMS2
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-199	10.63	POLE
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-207	10.63	PMS2 POLE
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-214	10.63	MSH2
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-23	10.63	KRAS
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-25	10.63	EPCAM
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-32	10.63	POLE
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-4	10.63	MSH2
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-43	10.63	MSH2
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-49	10.63	KRAS PMS2
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-50	10.63	KRAS
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-54	10.63	MSH2
29	Increased shRNA abundance (Z-score > 2)	GR00366-A-56	10.63	PMS2
30	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	10.63	EPCAM KRAS LRRFIP2 MSH2 PMS2 POLE
31	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	10.63	LRRFIP2
32	Increased shRNA abundance (Z-score > 2)	GR00366-A-79	10.63	EPCAM
33	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	10.63	POLE
34	Increased shRNA abundance (Z-score > 2)	GR00366-A-92	10.63	EPCAM
35	Increased shRNA abundance (Z-score > 2)	GR00366-A-93	10.63	KRAS
36	Decreased viability	GR00055-A-2	10.4	BRAF KRAS
37	Decreased viability	GR00106-A-0	10.4	KRAS
38	Decreased viability	GR00221-A-1	10.4	KRAS PMS1
39	Decreased viability	GR00221-A-2	10.4	BRCA1 KRAS PMS1
40	Decreased viability	GR00221-A-3	10.4	BRCA1
41	Decreased viability	GR00221-A-4	10.4	BRAF
42	Decreased viability	GR00301-A	10.4	BRAF BRCA1 KRAS MLH3 MSH2 PMS1
43	Decreased viability	GR00381-A-1	10.4	BRAF KRAS
44	Decreased viability	GR00402-S-2	10.4	BRAF BRCA1 KRAS MLH3 MSH2 PMS1
45	Increased viability with MLN4924 (a NAE inhibitor)	GR00250-A-3	9.97	BRAF BRCA1 BRCA2 EXO1 MLH1 MLH3
46	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-1	9.77	BRCA1 BRCA2 EXO1 MLH1 POLE TP53
47	Synthetic lethal with MLN4924 (a NAE inhibitor)	GR00250-A-2	9.77	BRAF BRCA1 BRCA2 EXO1 MLH1 POLE
48	Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation	GR00016-A	9.1	APC BRAF BRCA1 BRCA2 MSH2 TGFBR2

MGI Mouse Phenotypes related to Lynch Syndrome:

⁴⁷ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.4	APC BRAF BRCA1 BRCA2 EPCAM EXO1
2	homeostasis/metabolism	MP:0005376	10.34	APC BRAF BRCA1 BRCA2 EPCAM EPM2AIP1
3	hematopoietic system	MP:0005397	10.3	APC BRAF BRCA1 BRCA2 EPCAM EXO1
4	digestive/alimentary	MP:0005381	10.29	APC BRAF BRCA1 BRCA2 EPCAM KRAS
5	endocrine/exocrine gland	MP:0005379	10.26	APC BRAF BRCA1 BRCA2 EPCAM EXO1
6	immune system	MP:0005387	10.25	APC BRAF BRCA1 BRCA2 EPCAM EXO1
7	mortality/aging	MP:0010768	10.16	APC BRAF BRCA1 BRCA2 EPCAM EXO1
8	integument	MP:0010771	10.11	APC BRAF BRCA1 BRCA2 KRAS MLH1
9	embryo	MP:0005380	10.1	APC BRAF BRCA1 BRCA2 EPCAM KRAS
10	neoplasm	MP:0002006	10.06	APC BRAF BRCA1 BRCA2 EXO1 KRAS
11	liver/biliary system	MP:0005370	9.87	APC BRAF EPM2AIP1 KRAS PMS2 TGFBR2
12	pigmentation	MP:0001186	9.35	APC BRAF BRCA1 KRAS TP53
13	reproductive system	MP:0005389	9.32	APC BRAF BRCA1 BRCA2 EXO1 KRAS

Sources

Drugs & Therapeutics for Lynch Syndrome

Drugs for Lynch Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 92)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lidocaine

Approved, Vet_approved

Phase 4

137-58-6

3676

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Phase 1

Anesthetics

Phase 4

Central Nervous System Depressants

Phase 4

Anti-Arrhythmia Agents

Phase 4

Anesthetics, Local

Phase 4

Sodium Channel Blockers

Phase 4

Diuretics, Potassium Sparing

Phase 4

Bevacizumab

Approved, Investigational

Phase 3,Phase 1

216974-75-3

Levonorgestrel

Approved, Investigational

Phase 3,Phase 2

797-63-7, 17489-40-6

13109

Aspirin

Approved, Vet_approved

Phase 3

50-78-2

2244

Oxaliplatin

Approved, Investigational

Phase 3

61825-94-3

43805 6857599 5310940 9887054

Fluorouracil

Approved

Phase 3

51-21-8

3385

leucovorin

Approved

Phase 3

58-05-9

143 6006

Levoleucovorin

Approved, Investigational

Phase 3

68538-85-2

Atezolizumab

Approved, Investigational

Phase 3

1380723-44-3

Loperamide

Approved

Phase 3

53179-11-6

3955

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 3

59-30-3

6037

Calcium

Approved, Nutraceutical

Phase 3

7440-70-2

271

Cola

Phase 3,Phase 2,Not Applicable

Antirheumatic Agents

Phase 3,Phase 2,Phase 1

Analgesics

Phase 3,Phase 2,Phase 1

Analgesics, Non-Narcotic

Phase 3,Phase 2,Phase 1

Anti-Inflammatory Agents, Non-Steroidal

Phase 3,Phase 2,Phase 1

Cyclooxygenase Inhibitors

Phase 3,Phase 1

Anti-Inflammatory Agents

Phase 3,Phase 2,Phase 1

Hormones

Phase 3,Phase 2

Endothelial Growth Factors

Phase 3,Phase 1

Mitogens

Phase 3,Phase 1

Angiogenesis Inhibitors

Phase 3,Phase 1

Antineoplastic Agents, Immunological

Phase 3,Phase 2,Phase 1

Angiogenesis Modulating Agents

Phase 3,Phase 1

Contraceptives, Oral

Phase 3,Phase 2

Contraceptive Agents

Phase 3,Phase 2

Gastrointestinal Agents

Phase 3

Antipyretics

Phase 3

Platelet Aggregation Inhibitors

Phase 3

Acetylsalicylic acid lysinate

Phase 3

Fibrinolytic Agents

Phase 3

Vitamins

Phase 3

Antibodies, Monoclonal

Phase 3

Vitamin B9

Phase 3

Folate

Phase 3

Antimetabolites

Phase 3

Antibodies

Phase 3

Protective Agents

Phase 3

Antimetabolites, Antineoplastic

Phase 3

Micronutrients

Phase 3

Immunologic Factors

Phase 3,Phase 1,Phase 2

Bone Density Conservation Agents

Phase 3

Interventional clinical trials:

(show top 50) (show all 90)

#	Name	Status	NCT ID	Phase	Drugs
1	Pain Outcomes Following Intralesional Corticosteroid Injections	Recruiting	NCT03630198	Phase 4	Corticosteroid with lidocaine;Corticosteroid with normal saline
2	Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome	Recruiting	NCT02813824	Phase 3	Acetylsalicylic acid lysinate 300 mg;Placebo (for Aspirin 300);Acetylsalicylic acid lysinate 100 mg;Placebo 100 (for Aspirin 100)
3	Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair	Recruiting	NCT02912559	Phase 3	Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
4	Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer	Active, not recruiting	NCT00217737	Phase 3	Fluorouracil;Leucovorin Calcium;Oxaliplatin
5	Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers	Not yet recruiting	NCT02497820	Phase 3	Aspirin
6	Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma	Not yet recruiting	NCT02502370	Phase 3	observation alone;LV5FU2;FOLFOX
7	Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome	Terminated	NCT00566644	Phase 3
8	Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies	Terminated	NCT02263365	Phase 3	Loperamide
9	CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome	Completed	NCT00224601	Phase 2
10	Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer	Completed	NCT00033358	Phase 2	medroxyprogesterone;ethinyl estradiol;norgestrel
11	Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy	Recruiting	NCT03631641	Phase 2
12	Study of TVEC in Patients With Cutaneous Squamous Cell Cancer	Recruiting	NCT03714828	Phase 2	Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
13	Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers	Recruiting	NCT02978625	Phase 2
14	Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI	Active, not recruiting	NCT01885702	Phase 1, Phase 2
15	Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE)	Not yet recruiting	NCT03831698	Phase 2	Omega-3 fatty acid ethyl esters (2 gram)
16	Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome	Terminated	NCT03070574	Phase 2	mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
17	Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW	Completed	NCT02113202	Phase 1	Bevacizumab-IRDye800CW
18	Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and Carriers	Completed	NCT00001693	Phase 1	Celecoxib (SC-58635)
19	Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma	Recruiting	NCT02359565	Phase 1
20	Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome	Active, not recruiting	NCT02052908	Phase 1	Naproxen
21	Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer	Unknown status	NCT00516230
22	Hereditary Nonpolyposis Colorectal Cancer in Taiwan－Related Genetic Study and Clinical Applications	Unknown status	NCT00262171
23	Implementation of a New Strategy to Identify HNPCC Patients	Unknown status	NCT00141466	Not Applicable
24	Familial Cancer Registry and DNA Bank	Unknown status	NCT02083224
25	Hypodontia and Ovarian Cancer	Unknown status	NCT01470235
26	Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria	Completed	NCT03046849
27	Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer	Completed	NCT03047226
28	Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting	Completed	NCT01582841	Not Applicable
29	Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome	Completed	NCT00905710	Not Applicable
30	High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome.	Completed	NCT02951390	Not Applicable
31	Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome	Completed	NCT00898768	Early Phase 1
32	Molecular Screening for Lynch Syndrome in Southern Denmark	Completed	NCT01216930
33	Ohio Colorectal Cancer Prevention Initiative	Completed	NCT01850654	Not Applicable
34	Uncertain Genetic Test Results for Lynch Syndrome	Completed	NCT01646112
35	NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome	Completed	NCT02570516	Not Applicable
36	I-Scan For Colon Polyp Detection In HNPCC	Completed	NCT01823471	Not Applicable
37	Telemedicine vs. Face-to-Face Cancer Genetic Counseling	Completed	NCT00609505	Not Applicable
38	Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool	Completed	NCT02645084	Not Applicable
39	Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer	Completed	NCT00004210	Not Applicable
40	Oligogenic Determinism of Colorectal Cancer	Completed	NCT01057953	Not Applicable
41	Hereditary Colorectal and Associated Tumor Registry Study	Completed	NCT00633607
42	International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs	Completed	NCT02703545
43	Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance	Completed	NCT00313755	Not Applicable
44	Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients	Completed	NCT00508846
45	Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer	Completed	NCT00341575
46	Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients	Completed	NCT00582452
47	Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer	Completed	NCT00450424	Not Applicable
48	Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer	Completed	NCT00675636
49	Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time	Completed	NCT02196402
50	Genetic Risk: Whether, When, and How to Tell Adolescents	Completed	NCT03421327

Search NIH Clinical Center for Lynch Syndrome

Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Sources

Genetic Tests for Lynch Syndrome

Genetic tests related to Lynch Syndrome:

#	Genetic test	Affiliating Genes
1	Lynch Syndrome ³⁰
2	Hereditary Nonpolyposis Colorectal Carcinoma ³⁰

Sources

Anatomical Context for Lynch Syndrome

MalaCards organs/tissues related to Lynch Syndrome:

⁴²

Colon, Testes, Skin, Brain, Small Intestine, Ovary, Prostate

Sources

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

(show top 50) (show all 1833)

#	Title	Authors	Year
1	Response to "histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by lynch syndrome"-reply. ( 31075301 )		2019
2	Response to "histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by lynch syndrome". ( 31077684 )	Georgiou D...Monahan K	2019
3	Lung Adenocarcinoma with Lynch Syndrome and the Response to Nivolumab. ( 31092773 )	Kawashima Y...Nishio M	2019
4	A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome. ( 30723761 )	Sookram J...Krill LS	2019
5	Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature. ( 30963136 )	Kaur RJ...Bancos I	2019
6	The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome. ( 30638287 )	Albiani JJ...Hart TL	2019
7	Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2. ( 30816297 )	Wang X...Park JY	2019
8	Health and lifestyle behaviors in colorectal cancer survivors with and without Lynch syndrome. ( 31016603 )	Donato KM...Burton-Chase AM	2019
9	Total abdominal colectomy is cost-effective in treating colorectal cancer in patients with genetically diagnosed Lynch Syndrome. ( 30904142 )	Jiang B...University Hospitals Research in Surgical Outcome & Effectiveness (UH-RISES)	2019
10	Oral tongue cancer in a patient with hereditary nonpolyposis colorectal cancer: A case report and review of the literature. ( 30885722 )	Ziegler A...Thorpe E	2019
11	Adherence to guidelines for the referral of patients with colorectal cancer and abnormal tumour tissue testing for assessment of Lynch syndrome. ( 30856687 )	Han J...Spigelman AD	2019
12	Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome. ( 30877237 )	Pearlman R...Hampel H	2019
13	Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer. ( 30693488 )	Antelo M...Balaguer F	2019
14	The Impact of Universal Immunohistochemistry on Lynch Syndrome Diagnosis in an Australian Colorectal Cancer Cohort. ( 30667141 )	Loh Z...John T	2019
15	Immunoprofiles of colorectal cancer from Lynch syndrome. ( 30546958 )	Walkowska J...Therkildsen C	2019
16	Impact of gene-specific germline pathogenic variants on presentation of endometrial cancer in Lynch syndrome. ( 30772826 )	Bogani G...Raspagliesi F	2019
17	A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips? ( 30863719 )	Ryan NAJ...Crosbie EJ	2019
18	Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. ( 29651783 )	Petersen HV...Nilbert M	2019
19	Gastric cancer in Lynch syndrome is associated with underlying immune gastritis. ( 31055502 )	Adar T...Chung DC	2019
20	Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. ( 30917047 )	Sarode VR...Robinson L	2019
21	The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. ( 30918358 )	Crosbie EJ...Evans DG	2019
22	Single-center study of Lynch syndrome screening in colorectal polyps. ( 30918532 )	Zhu F...Pan J	2019
23	The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. ( 30968502 )	Pinheiro M...Teixeira MR	2019
24	Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack". ( 30969465 )	Rasmussen V...Young MA	2019
25	A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome. ( 30974197 )	Liu Y...Ye S	2019
26	Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome. ( 30998989 )	Bouvet D...Muleris M	2019
27	Targeted Cancer Next Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers. ( 31028081 )	Christakis AG...Dong F	2019
28	Effect of chromoendoscopy in the proximal colon on colorectal neoplasia detection in Lynch syndrome: a multicenter randomized controlled trial. ( 31028782 )	Haanstra JF...Koornstra JJ	2019
29	Malignant mesothelioma in Lynch syndrome: A report of two cases and a review of the literature. ( 31033031 )	Shih AR...Kradin RL	2019
30	Lynch syndrome and urologic malignancies: a contemporary review. ( 31045926 )	Lim A...Matin SF	2019
31	MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years. ( 31046708 )	Momma T...Nomizu T	2019
32	PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. ( 31056861 )	Guo X...Liu N	2019
33	CD31-positive microvessel density within adenomas of Lynch Syndrome patients is similar compared to adenomas of non-Lynch patients. ( 31073537 )	Vleugels JLA...Dekker E	2019
34	Two versus Four Immunostains for Lynch Syndrome Screening in Endometrial Carcinoma. ( 31077605 )	Niu BT...Singh N	2019
35	The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis. ( 31086306 )	Ryan NAJ...Crosbie EJ	2019
36	Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators. ( 31102338 )	Dicks E...Etchegary H	2019
37	Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome. ( 31104363 )	Geurts-Giele WR...Bleeker FE	2019
38	Endoscopic full thickness resection for early colon cancer in Lynch syndrome. ( 31111311 )	Langers AMJ...Vasen HFA	2019
39	Universal screening of Lynch syndrome is ready for implementation. ( 29740168 )	Di Marco M...Villari P	2019
40	Is universal tumor testing for Lynch syndrome cost-effective? It depends! ( 29765139 )	Grosse SD	2019
41	The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. ( 29846880 )	Menko FH...Bleiker EMA	2019
42	Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio. ( 30019097 )	Ranola JMO...Shirts BH	2019
43	Performance of tumor testing for Lynch syndrome identification in patients with colorectal cancer: A retrospective single-center study. ( 30117378 )	Signoroni S...Vitellaro M	2019
44	Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility? ( 30209752 )	Douma KFL...Smets EMA	2019
45	Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome. ( 30251116 )	Henriksson I...Gebre-Medhin S	2019
46	Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome. ( 30276639 )	Palter VN...Baxter NN	2019
47	Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. ( 30376427 )	Latham A...Stadler ZK	2019
48	Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome. ( 30446972 )	Kanaya N...Fujiwara T	2019
49	Duodenal tumor risk in Lynch syndrome. ( 30448460 )	Hammoudi N...Chaussade S	2019
50	Pseudomyxoma Peritonei After a Total Pancreatectomy for Intraductal Papillary Mucinous Neoplasm With Colloid Carcinoma in Lynch Syndrome. ( 30531244 )	Hackeng WM...Brosens LAA	2019

Sources

Genes for Lynch Syndrome

Genes related to Lynch Syndrome (5 elite genes):

(show all 35)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MLH1	MutL Homolog 1	Protein Coding	486.05	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20301390 11598466 15604628 (more) 23788249 25070057 24493721 25003300 25452455 24310308 25711197 23535968 25645574 23408351 25356965 27854360 8895729 16736289 9927034 11179758 8521398 18999873 11409565 16237223 16395668 9699680 15184898 15991064 16322221 8566964 10712226 9491849 11793442 10464596 10615127 19055168 10464599 10418831 11416201 19949877 16143124 19526325 17973250 17278092 19455606 19459153 19424639 19419416 17224235 20305446 19900449 19188145 16541406 16276679 19672700 19383812 18726168 12938096 19690142 19728162 7491839 10404064 16826164 18030674 20420947 8863153 18337503 17327285 17473388 19821155 19893772 19723918 17948867 17851451 17453009 18096441 17594722 16256400 12667026 8920666 20005439 19224586 19133695 18409202 20190724 19244167 18415027 18709565 17653898 16136382 15858146 15528793 19858019 18951442 18270343 17628916 17228328 17192056 16908935 16181381 15993273 19698169 18625694 18618713 17003395 20495087 19752738 19493351 18931482 19177550
2	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	482.61	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	20301390 11598466 15604628 (more) 23788249 25070057 24493721 25003300 25452455 24310308 25711197 23535968 25645574 23408351 25356965 27854360 10671064 8666379 19132747 19672700 18030674 19949877 20495087 19821155 20205264 19728162 18951442 19526325 19244167 18415027 18709565 17594722 16472587 19459153 18409202 17653898 16136382 20190724 19690142 18270343 15872200 17327285 19723918 17453009 17851451
3	MSH2	MutS Homolog 2	Protein Coding	474.91	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20301390 11598466 15604628 (more) 23788249 25070057 24493721 25003300 25452455 24310308 25711197 23535968 25645574 23408351 25356965 27854360 18999873 11409565 16237223 16395668 10615127 19055168 8198129 9242462 15184898 15991064 20388775 19459153 19911012 19949877 17003395 17224235 17628916 17039271 12938096 19900449 16541406 19476642 19526325 19728162 20305446 19098912 10404064 16826164 17453009 17948867 15872200 19698169 19173287 18625694 17327285 17278092 19821155 19723918 19132747 20190724 19244167 19188145 18415027 18709565 17594722 16353207 20005439 19455606 18726168 17922223 18409202 17653898 16136382 19858019 19690142 18951442 18270343 18987546 18556772 17228328 17192056 16908935 16181381 17851451 19177550 20495087 19390556 19419416 18030674 18931482
4	MSH6	MutS Homolog 6	Protein Coding	473.51	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Publications Variants (show sections)	20301390 11598466 15604628 (more) 23788249 25070057 24493721 25003300 25452455 24310308 25711197 23535968 25645574 23408351 25356965 27854360 16237223 15184898 18625694 19526325 19459153 10404064 18030674 19949877 20495087 17453009 15872200 18270343 19690142 20190724 19244167 18709565 17594722 18409202 17653898 16136382 18951442 19728162 17851451 19132747 19723918 19821155 17327285
5	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	435.6	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)	20301390 11598466 15604628 (more) 23788249 25070057 24493721 25003300 25452455 24310308 25711197 23535968 25645574 23408351 25356965 27854360
6	PMS1	PMS1 Homolog 1, Mismatch Repair System Component	Protein Coding	66.13	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications Summaries Variants (show sections)	7491839 16136382 8895729 (more) 9491849 10712226
7	MLH3	MutL Homolog 3	Protein Coding	36.27	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
8	MUTYH	MutY DNA Glycosylase	Protein Coding	33.32	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17335759
9	BRCA2	BRCA2 DNA Repair Associated	Protein Coding	32.44	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	17601911 19383374 16256400
10	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	31.08	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
11	BRAF	B-Raf Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	30.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	19949877 19424639 19241144 (more) 19072991 18096441
12	APC	APC Regulator Of WNT Signaling Pathway	Protein Coding	30	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Publications (show sections)	16790391 17392593
13	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	24.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	19383374 16256400 17601911
14	EXO1	Exonuclease 1	Protein Coding	24.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	14623461
15	MSH3	MutS Homolog 3	Protein Coding	24.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	TP53	Tumor Protein P53	Protein Coding	23.26	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	POLE	DNA Polymerase Epsilon, Catalytic Subunit	Protein Coding	22.91	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	22.55	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	LRRFIP2	LRR Binding FLII Interacting Protein 2	Protein Coding	20.32	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
20	EPM2AIP1	EPM2A Interacting Protein 1	Protein Coding	14.4	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
21	POLD1	DNA Polymerase Delta 1, Catalytic Subunit	Protein Coding	12.23	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	12.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	RINT1	RAD50 Interactor 1	Protein Coding	11.85	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	CTNNB1	Catenin Beta 1	Protein Coding	11.62	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	CD274	CD274 Molecule	Protein Coding	11.04	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
26	MGMT	O-6-Methylguanine-DNA Methyltransferase	Protein Coding	10.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	PTPRH	Protein Tyrosine Phosphatase Receptor Type H	Protein Coding	10.09	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	OGG1	8-Oxoguanine DNA Glycosylase	Protein Coding	10	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	EGFR	Epidermal Growth Factor Receptor	Protein Coding	9.9	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	GSTM1	Glutathione S-Transferase Mu 1	Protein Coding	9.89	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	CCND1	Cyclin D1	Protein Coding	9.87	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
32	RNF43	Ring Finger Protein 43	Protein Coding	9.66	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	LIG4	DNA Ligase 4	Protein Coding	9.55	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	FBXO11	F-Box Protein 11	Protein Coding	9.17	GeneCards inferred via : Variants (show sections)
35	AIMP2	Aminoacyl TRNA Synthetase Complex Interacting Multifunctional Protein 2	Protein Coding	8.42	GeneCards inferred via : Variants (show sections)

Sources

Variations for Lynch Syndrome

ClinVar genetic disease variations for Lynch Syndrome:

⁶ (show top 50) (show all 15020)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MSH2	NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)	single nucleotide variant	Pathogenic	rs28929483	GRCh37	Chromosome 2, 47702269: 47702269
2	MSH2	NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu)	single nucleotide variant	Pathogenic	rs28929483	GRCh38	Chromosome 2, 47475130: 47475130
3	MSH2	NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)	single nucleotide variant	Pathogenic	rs63751108	GRCh37	Chromosome 2, 47657020: 47657020
4	MSH2	NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter)	single nucleotide variant	Pathogenic	rs63751108	GRCh38	Chromosome 2, 47429881: 47429881
5	MSH2	NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)	single nucleotide variant	Pathogenic	rs28929484	GRCh37	Chromosome 2, 47702319: 47702319
6	MSH2	NM_000251.2(MSH2): c.1915C> T (p.His639Tyr)	single nucleotide variant	Pathogenic	rs28929484	GRCh38	Chromosome 2, 47475180: 47475180
7	MSH2	NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)	deletion	Pathogenic	rs63749831	GRCh37	Chromosome 2, 47702190: 47702192
8	MSH2	NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del)	deletion	Pathogenic	rs63749831	GRCh38	Chromosome 2, 47475051: 47475053
9	MSH2	NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)	single nucleotide variant	Pathogenic	rs63750047	GRCh37	Chromosome 2, 47702205: 47702205
10	MSH2	NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter)	single nucleotide variant	Pathogenic	rs63750047	GRCh38	Chromosome 2, 47475066: 47475066
11	MSH2	NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)	single nucleotide variant	Likely pathogenic	rs63751207	GRCh37	Chromosome 2, 47693857: 47693857
12	MSH2	NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro)	single nucleotide variant	Likely pathogenic	rs63751207	GRCh38	Chromosome 2, 47466718: 47466718
13	MSH2	NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)	deletion	Pathogenic	rs63749811	GRCh37	Chromosome 2, 47703613: 47703613
14	MSH2	NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs)	deletion	Pathogenic	rs63749811	GRCh38	Chromosome 2, 47476474: 47476474
15	MSH2	NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)	duplication	Pathogenic	rs1553350126	GRCh37	Chromosome 2, 47635597: 47635618
16	MSH2	NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs)	duplication	Pathogenic	rs1553350126	GRCh38	Chromosome 2, 47408458: 47408479
17	MSH2	NM_000251.2(MSH2): c.965G> A (p.Gly322Asp)	single nucleotide variant	Benign	rs4987188	GRCh37	Chromosome 2, 47643457: 47643457
18	MSH2	NM_000251.2(MSH2): c.965G> A (p.Gly322Asp)	single nucleotide variant	Benign	rs4987188	GRCh38	Chromosome 2, 47416318: 47416318
19	MSH2	NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)	single nucleotide variant	Pathogenic	rs63750875	GRCh37	Chromosome 2, 47702310: 47702310
20	MSH2	NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro)	single nucleotide variant	Pathogenic	rs63750875	GRCh38	Chromosome 2, 47475171: 47475171
21	MSH2	NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)	deletion	Pathogenic	rs63751449	GRCh37	Chromosome 2, 47637320: 47637320
22	MSH2	NM_000251.2(MSH2): c.454delA (p.Met152Cysfs)	deletion	Pathogenic	rs63751449	GRCh38	Chromosome 2, 47410181: 47410181
23	MLH3	NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28756990	GRCh37	Chromosome 14, 75514138: 75514138
24	MLH3	NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs28756990	GRCh38	Chromosome 14, 75047435: 75047435
25	MSH6	NM_000179.2(MSH6): c.2633T> C (p.Val878Ala)	single nucleotide variant	Benign	rs2020912	GRCh37	Chromosome 2, 48027755: 48027755
26	MSH6	NM_000179.2(MSH6): c.2633T> C (p.Val878Ala)	single nucleotide variant	Benign	rs2020912	GRCh38	Chromosome 2, 47800616: 47800616
27	MSH6	NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)	duplication	Pathogenic	rs63750955	GRCh38	Chromosome 2, 47798634: 47798634
28	MSH6	NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs)	duplication	Pathogenic	rs63750955	GRCh37	Chromosome 2, 48025773: 48025773
29	PMS2	NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)	single nucleotide variant	Pathogenic	rs63750871	GRCh37	Chromosome 7, 6042221: 6042221
30	PMS2	NM_000535.6(PMS2): c.400C> T (p.Arg134Ter)	single nucleotide variant	Pathogenic	rs63750871	GRCh38	Chromosome 7, 6002590: 6002590
31	PMS2	NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)	deletion	Pathogenic	rs587776715	GRCh37	Chromosome 7, 6027175: 6027175
32	PMS2	NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs)	deletion	Pathogenic	rs587776715	GRCh38	Chromosome 7, 5987544: 5987544
33	PMS2	NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)	single nucleotide variant	Pathogenic	rs63751466	GRCh37	Chromosome 7, 6017260: 6017260
34	PMS2	NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter)	single nucleotide variant	Pathogenic	rs63751466	GRCh38	Chromosome 7, 5977629: 5977629
35	PMS2	NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs)	deletion	Pathogenic	rs63750049	GRCh38	Chromosome 7, 5989923: 5989923
36	PMS2	NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs)	deletion	Pathogenic	rs63750049	GRCh37	Chromosome 7, 6029554: 6029554
37	PMS2	NM_000535.7(PMS2): c.1882C> T (p.Arg628Ter)	single nucleotide variant	Pathogenic	rs63750451	GRCh37	Chromosome 7, 6026514: 6026514
38	PMS2	NM_000535.7(PMS2): c.1882C> T (p.Arg628Ter)	single nucleotide variant	Pathogenic	rs63750451	GRCh38	Chromosome 7, 5986883: 5986883
39	PMS2	NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)	single nucleotide variant	Likely pathogenic	rs121434629	GRCh37	Chromosome 7, 6045549: 6045549
40	PMS2	NM_000535.6(PMS2): c.137G> T (p.Ser46Ile)	single nucleotide variant	Likely pathogenic	rs121434629	GRCh38	Chromosome 7, 6005918: 6005918
41	MLH1	NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)	single nucleotide variant	Pathogenic	rs63751109	GRCh37	Chromosome 3, 37038124: 37038124
42	MLH1	NM_000249.3(MLH1): c.131C> T (p.Ser44Phe)	single nucleotide variant	Pathogenic	rs63751109	GRCh38	Chromosome 3, 36996633: 36996633
43	MLH1	NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)	deletion	Pathogenic	rs63751247	GRCh37	Chromosome 3, 37089130: 37089132
44	MLH1	NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del)	deletion	Pathogenic	rs63751247	GRCh38	Chromosome 3, 37047639: 37047641
45	MLH1	NM_000249.3(MLH1): c.986A> C (p.His329Pro)	single nucleotide variant	Pathogenic	rs63750710	GRCh37	Chromosome 3, 37061902: 37061902
46	MLH1	NM_000249.3(MLH1): c.986A> C (p.His329Pro)	single nucleotide variant	Pathogenic	rs63750710	GRCh38	Chromosome 3, 37020411: 37020411
47	MLH1	NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)	single nucleotide variant	Pathogenic	rs63751615	GRCh37	Chromosome 3, 37053589: 37053589
48	MLH1	NM_000249.3(MLH1): c.676C> T (p.Arg226Ter)	single nucleotide variant	Pathogenic	rs63751615	GRCh38	Chromosome 3, 37012098: 37012098
49	MLH1	NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)	single nucleotide variant	Pathogenic	rs63750206	GRCh37	Chromosome 3, 37038192: 37038192
50	MLH1	NM_000249.3(MLH1): c.199G> T (p.Gly67Trp)	single nucleotide variant	Pathogenic	rs63750206	GRCh38	Chromosome 3, 36996701: 36996701

Copy number variations for Lynch Syndrome from CNVD:

⁷ (show all 23)

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	134337	2	1	68600000	Copy number	MSH2	Lynch syndrome
2	145649	2	41800000	47800000	Copy number	MSH2	Hereditary non-polyposis colorectal cancer
3	146237	2	47483766	47760012	Deletion	MSH2	Hereditary non-polyposis colorectal cancer
4	146238	2	47483766	47760012	Deletion	MSH2	Lynch syndrome
5	146240	2	47483766	47760012	Duplication	MSH2	Hereditary non-polyposis colorectal cancer
6	146253	2	47483766	47760012	Genomic rearrangemen t	MSH2	Lynch syndrome
7	146257	2	47483766	47760012	Rearrangement	MSH2	Lynch syndrome
8	146288	2	47630206	47710367	Deletion	MSH2	Hereditary non-polyposis colorectal cancer
9	146318	2	47800000	61300000	Copy number	MSH6	Hereditary non-polyposis colorectal cancer
10	146327	2	47863724	47887596	Copy number	MSH6	Lynch syndrome
11	146329	2	47863724	47887596	Deletion	MSH6	Hereditary non-polyposis colorectal cancer
12	146343	2	47863724	47887596	Genomic rearrangemen t	MSH6	Lynch syndrome
13	166103	3	1	50600000	Copy number	MLH1	Lynch syndrome
14	168775	3	13300000	39400000	Copy number		Lynch syndrome
15	174998	3	37009982	37067341	Deletion	MLH1	Hereditary non-polyposis colorectal cancer
16	174999	3	37009982	37067341	Deletion	MLH1	Lynch syndrome
17	175001	3	37009982	37067341	Duplication	MLH1	Hereditary non-polyposis colorectal cancer
18	175014	3	37009982	37067341	Genomic rearrangemen t	MLH1	Lynch syndrome
19	175017	3	37009982	37067341	Rearrangement	MLH1	Lynch syndrome
20	175023	3	37034841	37092337	Mutation	MLH1	Hereditary non-polyposis colorectal cancer
21	217078	7	1	45400000	Copy number	PMS2	Lynch syndrome
22	217125	7	1	7200000	Deletion	PMS2	Lynch syndrome
23	244889	9	1	2200000	Copy number		Lynch syndrome

Sources

Expression for Lynch Syndrome

Search GEO for disease gene expression data for Lynch Syndrome.

Sources

Pathways for Lynch Syndrome

Pathways related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 32)

#	Super pathways	Score	Top Affiliating Genes
1	Cell Cycle, Mitotic ⁶⁷ Show member pathways Cell Cycle ⁶⁷ M Phase ⁶⁷	13.35	BRCA1 BRCA2 EXO1 MLH1 MLH3 POLE
2	DNA Double-Strand Break Repair ⁶⁷ Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex ⁶⁷ DNA damage_DNA-damage-induced responses ²³ DNA Repair ⁶⁷ G2/M DNA damage checkpoint ⁶⁷ HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) ⁶⁷ HDR through MMEJ (alt-NHEJ) ⁶⁷ Homology Directed Repair ⁶⁷ Non-homologous end joining ¹ Non-homologous end-joining ³⁸ Processing of DNA double-strand break ends ⁶⁷	13.18	BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
3	Regulation of TP53 Activity ⁶⁷ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁷ Regulation of TP53 Activity through Methylation ⁶⁷ Regulation of TP53 Activity through Phosphorylation ⁶⁷ Transcriptional Regulation by TP53 ⁶⁷	12.91	BRCA1 EXO1 MLH1 MSH2 PMS2 TP53
4	TCR Signaling (Qiagen) ⁶⁵ Show member pathways Fc-EpsilonRI Pathway ⁶⁵ ITK and TCR Signaling ⁶⁵ PKC-Theta Pathway ⁶⁵ TCR Signaling ⁶⁵	12.9	BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
5	Endometrial cancer ³⁸ Show member pathways Acute myeloid leukemia ³⁸ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁷ Chronic myeloid leukemia ³⁸ Colorectal cancer ³⁸ Pancreatic cancer ³⁸ Prostate cancer ³⁸ Signal transduction PTEN pathway ²³ Thyroid cancer ³⁸	12.81	APC BRAF BRCA2 KRAS MLH1 MSH2
6	Pathways in cancer ³⁸	12.74	APC BRAF BRCA2 KRAS MLH1 MSH2
7	Gastric cancer ³⁸ Show member pathways Breast cancer ³⁸ Hepatocellular carcinoma ³⁸	12.73	APC BRAF BRCA1 BRCA2 KRAS MLH1
8	Chks in Checkpoint Regulation ⁶⁵ Show member pathways DNA Repair Mechanisms ⁶⁵ Estrogen-mediated S-Phase Entry ⁶⁵ G2-M Phase Transition ⁶⁵ Parkinson's Disease Pathway ⁶⁵ SREBP Proteolysis ⁶⁵	12.69	BRCA1 BRCA2 MSH2 MSH3 MSH6 POLE
9	Glioma ³⁸ Show member pathways Endocrine resistance ³⁸ Melanoma ³⁸ Non-small cell lung cancer ³⁸ Signaling Pathways in Glioblastoma ¹	12.65	BRAF BRCA1 BRCA2 KRAS MSH6 TP53
10	DNA Damage ⁴	12.49	BRCA1 BRCA2 MLH1 MSH2 MSH6 MUTYH
11	MicroRNAs in cancer ³⁸	12.43	APC BRCA1 KRAS TP53
12	Meiosis ⁶⁷ Show member pathways Meiotic recombination ⁶⁷ Meiotic synapsis ⁶⁷	12.41	BRCA1 BRCA2 MLH1 MLH3
13	mTOR signaling pathway (KEGG) ³⁸ Show member pathways mTOR Signaling Pathway ⁶⁶	12.41	APC BRAF KRAS TP53
14	Human T-cell leukemia virus 1 infection ³⁸	12.32	APC KRAS POLE TGFBR2 TP53
15	Homologous DNA Pairing and Strand Exchange ⁶⁷ Show member pathways ATR Signaling ¹ HDR through Homologous Recombination (HRR) ⁶⁷ HDR through Single Strand Annealing (SSA) ⁶⁷ Presynaptic phase of homologous DNA pairing and strand exchange ⁶⁷	12.22	BRCA1 BRCA2 EXO1 POLE
16	mTOR Pathway ⁷³ Show member pathways Insulin Pathway ⁷³ TGF-beta Pathway ⁷³	12.12	BRAF KRAS TGFBR2 TP53
17	Direct p53 effectors ¹	12.08	APC MLH1 MSH2 PMS2 TP53
18	Integrated Breast Cancer Pathway ¹	11.95	BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
19	Glioblastoma Multiforme ⁶⁵	11.94	APC BRAF KRAS TP53
20	Fanconi anemia pathway ³⁸ ⁶⁷	11.84	BRCA1 BRCA2 MLH1 PMS2
21	Colorectal Cancer Metastasis ⁶⁵	11.83	APC BRAF KRAS MLH1 MSH2 MSH3
22	BRCA1 Pathway ⁶⁵ Show member pathways Fanconi's Anaemia Pathway ⁶⁵	11.81	BRCA1 BRCA2 MSH2 MSH6 TP53
23	TGF-beta Signaling Pathways ⁶⁶	11.8	BRAF KRAS TGFBR2
24	Retinoblastoma (RB) in Cancer ¹	11.75	MSH6 POLE TP53
25	Platinum drug resistance ³⁸	11.74	BRCA1 MLH1 MSH2 MSH3 MSH6 TP53
26	Bladder cancer ¹ ³⁸	11.67	BRAF KRAS TP53
27	Integrated Cancer Pathway ¹	11.51	BRCA1 MSH2 MSH6 TP53
28	DNA damage_Role of Brca1 and Brca2 in DNA repair ²³	11.46	BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
29	Doxorubicin Pathway, Pharmacokinetics ⁶² Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics ⁶²	11.38	MLH1 MSH2 TP53
30	Platinum Pathway, Pharmacokinetics/Pharmacodynamics ⁶²	11.27	MLH1 MSH2 MSH6 PMS2
31	Mismatch repair ¹ ⁶⁷ ³⁸ Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) ⁶⁷ Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) ⁶⁷ Mismatch Repair in Eukaryotes ⁶⁵	11.27	EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
32	Extracellular vesicle-mediated signaling in recipient cells ¹	11.25	APC KRAS TGFBR2

Sources

GO Terms for Lynch Syndrome

Cellular components related to Lynch Syndrome according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	condensed nuclear chromosome	GO:0000794	9.61	BRCA1 MLH1 MLH3
2	lateral element	GO:0000800	9.46	BRCA1 BRCA2
3	MutSalpha complex	GO:0032301	9.4	MSH2 MSH6
4	chiasma	GO:0005712	9.37	MLH1 MLH3
5	MutSbeta complex	GO:0032302	9.32	MSH2 MSH3
6	MutLalpha complex	GO:0032389	9.26	MLH1 MLH3 PMS1 PMS2
7	mismatch repair complex	GO:0032300	9.17	MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
8	nucleus	GO:0005634	10.06	APC BRAF BRCA1 BRCA2 EPM2AIP1 EXO1
9	nucleoplasm	GO:0005654	10.03	APC BRCA1 BRCA2 EXO1 MLH1 MSH2

Biological processes related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	double-strand break repair	GO:0006302	9.77	BRCA1 BRCA2 MSH2
2	reciprocal meiotic recombination	GO:0007131	9.74	MLH1 MLH3 MSH3
3	intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	GO:0042771	9.73	BRCA2 MSH2 TP53
4	DNA repair	GO:0006281	9.73	BRCA1 BRCA2 EXO1 MLH1 MLH3 MSH2
5	intrinsic apoptotic signaling pathway in response to DNA damage	GO:0008630	9.72	BRCA1 BRCA2 MLH1 MSH2 MSH6
6	negative regulation of DNA recombination	GO:0045910	9.71	MSH2 MSH3 MSH6
7	determination of adult lifespan	GO:0008340	9.7	MSH2 MSH6 TP53
8	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	GO:0006978	9.69	BRCA1 BRCA2 TP53
9	positive regulation of helicase activity	GO:0051096	9.67	MSH2 MSH3 MSH6
10	isotype switching	GO:0045190	9.67	EXO1 MLH1 MSH2 MSH6
11	somatic hypermutation of immunoglobulin genes	GO:0016446	9.65	EXO1 MLH1 MSH2 MSH6 PMS2
12	maintenance of DNA repeat elements	GO:0043570	9.63	MSH2 MSH3 MSH6
13	postreplication repair	GO:0006301	9.62	BRCA1 MSH2
14	positive regulation of isotype switching to IgG isotypes	GO:0048304	9.61	MLH1 MSH2
15	positive regulation of isotype switching to IgA isotypes	GO:0048298	9.58	MLH1 MSH2
16	chordate embryonic development	GO:0043009	9.58	BRCA1 BRCA2
17	somatic recombination of immunoglobulin gene segments	GO:0016447	9.58	MLH1 MSH2 MSH6
18	somatic recombination of immunoglobulin genes involved in immune response	GO:0002204	9.55	MLH1 MSH2
19	replication fork arrest	GO:0043111	9.48	MSH3 MSH6
20	meiotic mismatch repair	GO:0000710	9.43	MSH3 MSH6
21	mitotic recombination	GO:0006312	9.3	MSH3
22	pyrimidine dimer repair	GO:0006290	9.29	MSH6
23	mismatch repair	GO:0006298	9.28	EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
24	cellular response to DNA damage stimulus	GO:0006974	10	APC BRCA1 BRCA2 EXO1 MLH1 MLH3

Molecular functions related to Lynch Syndrome according to GeneCards Suite gene sharing:

(show all 22)

#	Name	GO ID	Score	Top Affiliating Genes
1	ATPase activity	GO:0016887	9.99	MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
2	chromatin binding	GO:0003682	9.98	EXO1 MLH1 MLH3 MSH2 MSH6 POLE
3	enzyme binding	GO:0019899	9.95	BRCA1 MLH1 MSH2 MSH3 MSH6 PMS1
4	damaged DNA binding	GO:0003684	9.85	BRCA1 MSH2 MSH3 MSH6
5	DNA-dependent ATPase activity	GO:0008094	9.77	MSH2 MSH3 MSH6
6	MutLalpha complex binding	GO:0032405	9.65	MSH2 MSH6 MUTYH
7	MutSalpha complex binding	GO:0032407	9.63	MLH1 MUTYH PMS2
8	four-way junction DNA binding	GO:0000400	9.61	MSH2 MSH6
9	LRR domain binding	GO:0030275	9.6	KRAS LRRFIP2
10	dinucleotide insertion or deletion binding	GO:0032139	9.58	MSH2 MSH3
11	double-strand/single-strand DNA junction binding	GO:0000406	9.58	MSH2 MSH3
12	dinucleotide repeat insertion binding	GO:0032181	9.57	MSH2 MSH3
13	oxidized purine DNA binding	GO:0032357	9.56	MSH2 MSH3 MSH6 MUTYH
14	single thymine insertion binding	GO:0032143	9.54	MSH2 MSH3 MSH6
15	single guanine insertion binding	GO:0032142	9.5	MSH2 MSH3 MSH6
16	centromeric DNA binding	GO:0019237	9.49	MLH3 MSH2
17	guanine/thymine mispair binding	GO:0032137	9.46	MLH1 MSH2 MSH3 MSH6
18	single-stranded DNA binding	GO:0003697	9.35	BRCA2 MLH1 MSH2 MSH3 PMS2
19	mismatched DNA binding	GO:0030983	9.17	MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
20	protein binding	GO:0005515	10.51	APC BRAF BRCA1 BRCA2 EPCAM EPM2AIP1
21	DNA binding	GO:0003677	10.3	BRCA1 BRCA2 EXO1 MSH2 MSH3 MSH6
22	ATP binding	GO:0005524	10.22	BRAF MLH1 MLH3 MSH2 MSH3 MSH6

Sources

Sources for Lynch Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia