Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Academic Licensing Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: LYN001
MIFTS: 71

Lynch Syndrome

Categories: Rare diseases, Genetic diseases, Cancer diseases, Gastrointestinal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Lynch Syndrome

About this section

MalaCards integrated aliases for Lynch Syndrome:

Name: Lynch Syndrome 12 72 23 49 24 28 51 14
Hereditary Nonpolyposis Colorectal Cancer 12 49 24 69
Hnpcc 23 49 24
Hereditary Nonpolyposis Colorectal Neoplasms 24 69
Hereditary Nonpolyposis Colorectal Carcinoma 28 69
Familial Nonpolyposis Colon Cancer 49 24
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 69
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 41
Hereditary Non-Polyposis Colon Cancer Type 1 12
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Hereditary Nonpolyposis Colorectal Neoplasm 12
Colorectal Cancer, Hereditary Nonpolyposis 49
Hereditary Non-Polyposis Colon Cancer 23
Hereditary Nonpolyposis Colon Cancer 51
Colon Cancer, Familial Nonpolyposis 49
Cancer Family Syndrome 24
Lynch Syndrome 1 49
Lynch Syndrome 2 49
Coca 1 12
Coca1 49

Characteristics:

HPO:

31
lynch syndrome:
Mortality/Aging death in infancy death in early adulthood


GeneReviews:

23
Penetrance Penetrance of crcs and extracolonic cancers associated with pathogenic variants in an mmr gene or epcam is less than 100% (see table 2). 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
See all MalaCards categories (disease lists)


Sources

Summaries for Lynch Syndrome

About this section
NIH Rare Diseases : 49 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. Last updated: 4/13/2017

MalaCards based summary : Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to lynch syndrome i and muir-torre syndrome, and has symptoms including visual impairment, depressivity and irritability. 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 Bevacizumab and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and brain, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Genetics Home Reference : 24 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.

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.

GeneReviews: NBK1211
Sources

Related Diseases for Lynch Syndrome

About this section

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 171)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 33.4 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
2 muir-torre syndrome 32.4 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 mismatch repair cancer syndrome 32.3 APC MLH1 MSH2 MSH6 PMS1 PMS2
4 gastric cancer 32.0 APC CDKN2A KRAS MLH1 MSH2 MUTYH
5 pancreatic cancer 31.5 BRCA1 BRCA2 CDKN2A EPCAM KRAS TP53
6 ovarian cancer 31.2 BRAF BRCA1 BRCA2 EPCAM KRAS MLH1
7 colorectal adenoma 30.7 KRAS MLH1 MSH2 MUTYH TP53
8 adenocarcinoma 30.6 BRAF CDKN2A EPCAM KRAS MLH1 MSH2
9 adenoma 30.5 APC BRAF KRAS MLH1 MSH2 MUTYH
10 familial adenomatous polyposis 30.4 APC KRAS MLH1 MSH2 MSH6 MUTYH
11 familial colorectal cancer 30.4 APC BRAF MLH1 MSH2 MUTYH POLD1
12 mutyh-associated polyposis 30.3 APC KRAS MUTYH TP53
13 colorectal adenocarcinoma 30.2 BRAF KRAS MLH1 MSH2 MSH6 TP53
14 ovarian cancer 1 29.9 BRCA1 BRCA2 EPCAM KRAS TP53
15 li-fraumeni syndrome 29.8 BRCA1 BRCA2 CDKN2A MLH1 TP53
16 endometrial cancer 29.5 BRAF BRCA1 BRCA2 CDKN2A KRAS MLH1
17 colorectal cancer 28.0 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
18 colorectal cancer, hereditary nonpolyposis, type 8 12.4
19 colorectal cancer, hereditary nonpolyposis, type 6 12.4
20 colorectal cancer, hereditary nonpolyposis, type 4 12.4
21 colorectal cancer, hereditary nonpolyposis, type 5 12.4
22 colorectal cancer, hereditary nonpolyposis, type 2 12.3
23 colorectal cancer, hereditary nonpolyposis, type 7 12.3
24 familial stomach cancer 10.9
25 nevus of ota 10.7 BRAF TP53
26 brain stem astrocytic neoplasm 10.7 CDKN2A TP53
27 polymerase proofreading-related adenomatous polyposis 10.7 POLD1 POLE
28 bap1 tumor predisposition syndrome 10.6 BRCA2 PMS2
29 lip cancer 10.6 BRAF MSH2 TP53
30 skin benign neoplasm 10.6 MLH1 MSH2 MSH6
31 spitz nevus 10.6 BRAF CDKN2A TP53
32 gastric leiomyoma 10.6 MLH1 MSH3 MSH6
33 keratoacanthoma 10.6 MLH1 MSH2 TP53
34 actinic cheilitis 10.6 MSH2 TP53
35 appendix carcinoid tumor 10.6 MLH1 MSH2 MSH6 PMS2
36 cerebellar astrocytoma 10.6 BRAF TP53
37 adenosquamous colon carcinoma 10.6 MLH1 MSH2 MSH6 PMS2
38 sebaceous adenoma 10.6 MLH1 MSH2 MSH6 PMS2
39 breast giant fibroadenoma 10.6 BRCA2 CDKN2A PMS2
40 polyposis syndrome, hereditary mixed, 1 10.6 APC MLH1 MUTYH
41 squamous cell carcinoma of the oropharynx 10.6 CDKN2A TP53
42 mature teratoma 10.6 BRAF KRAS TP53
43 acinar cell carcinoma 10.6 APC BRCA2 TP53
44 nasal cavity adenocarcinoma 10.5 CDKN2A KRAS TP53
45 skin melanoma 10.5 BRAF CDKN2A TP53
46 biliary tract neoplasm 10.5 CDKN2A KRAS TP53
47 anal squamous cell carcinoma 10.5 APC CDKN2A MLH1 TP53
48 ocular cancer 10.5 BRCA2 CDKN2A TP53
49 bile duct adenocarcinoma 10.5 EPCAM KRAS TP53
50 ovary adenocarcinoma 10.5 KRAS POLE TP53

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



Diseases related to Lynch Syndrome
Sources

Symptoms & Phenotypes for Lynch Syndrome

About this section

Human phenotypes related to Lynch Syndrome:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 occasional (7.5%) HP:0000505
2 depressivity 31 frequent (33%) HP:0000716
3 irritability 31 frequent (33%) HP:0000737
4 hallucinations 31 occasional (7.5%) HP:0000738
5 anxiety 31 frequent (33%) HP:0000739
6 visual field defect 31 occasional (7.5%) HP:0001123
7 seizures 31 frequent (33%) HP:0001250
8 muscular hypotonia 31 frequent (33%) HP:0001252
9 dysarthria 31 occasional (7.5%) HP:0001260
10 hypertonia 31 frequent (33%) HP:0001276
11 gait disturbance 31 occasional (7.5%) HP:0001288
12 flexion contracture 31 occasional (7.5%) HP:0001371
13 hepatocellular carcinoma 31 occasional (7.5%) HP:0001402
14 weight loss 31 hallmark (90%) HP:0001824
15 nausea and vomiting 31 frequent (33%) HP:0002017
16 constipation 31 hallmark (90%) HP:0002019
17 malabsorption 31 hallmark (90%) HP:0002024
18 abdominal pain 31 hallmark (90%) HP:0002027
19 migraine 31 frequent (33%) HP:0002076
20 gastrointestinal hemorrhage 31 hallmark (90%) HP:0002239
21 memory impairment 31 occasional (7.5%) HP:0002354
22 developmental regression 31 occasional (7.5%) HP:0002376
23 increased intracranial pressure 31 frequent (33%) HP:0002516
24 basal cell carcinoma 31 occasional (7.5%) HP:0002671
25 pituitary adenoma 31 occasional (7.5%) HP:0002893
26 colon cancer 31 hallmark (90%) HP:0003003
27 neuroblastoma 31 occasional (7.5%) HP:0003006
28 paresthesia 31 occasional (7.5%) HP:0003401
29 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
30 pancreatic adenocarcinoma 31 occasional (7.5%) HP:0006725
31 attention deficit hyperactivity disorder 31 frequent (33%) HP:0007018
32 abnormal pyramidal signs 31 occasional (7.5%) HP:0007256
33 agnosia 31 occasional (7.5%) HP:0010524
34 dysgraphia 31 occasional (7.5%) HP:0010526
35 neoplasm of the skeletal system 31 occasional (7.5%) HP:0010622
36 urinary tract neoplasm 31 occasional (7.5%) HP:0010786
37 abnormality of creatine metabolism 31 occasional (7.5%) HP:0012113
38 glioblastoma multiforme 31 hallmark (90%) HP:0012174
39 fatigue 31 hallmark (90%) HP:0012378
40 neoplasm of the thyroid gland 31 occasional (7.5%) HP:0100031
41 cardiac diverticulum 31 occasional (7.5%) HP:0100571
42 amaurosis fugax 31 occasional (7.5%) HP:0100576
43 ovarian neoplasm 31 occasional (7.5%) HP:0100615
44 dyskinesia 31 occasional (7.5%) HP:0100660
45 neoplasm of the rectum 31 frequent (33%) HP:0100743
46 benign neoplasm of the central nervous system 31 occasional (7.5%) HP:0100835
47 intestinal polyposis 31 occasional (7.5%) HP:0200008

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

25 (show top 50) (show all 60)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.89 LRRFIP2 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.89 KRAS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.89 BRAF
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.89 KRAS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.89 POLE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.89 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.89 APC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.89 LRRFIP2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.89 BRAF
10 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.89 MSH2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.89 EPCAM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-159 10.89 POLD1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.89 PMS2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.89 BRAF
15 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.89 EPCAM KRAS POLE
16 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.89 LRRFIP2 POLD1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.89 EPCAM MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.89 BRAF APC LRRFIP2 KRAS POLD1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.89 PMS2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.89 APC
21 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.89 BRAF
22 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.89 KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.89 PMS2
24 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.89 POLE
25 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.89 APC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.89 POLE PMS2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.89 MSH2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.89 KRAS
29 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.89 KRAS POLD1
30 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.89 EPCAM
31 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.89 BRAF APC
32 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.89 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.89 BRAF POLE
34 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.89 MSH2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.89 MSH2
36 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.89 BRAF
37 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.89 APC KRAS PMS2 POLD1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.89 KRAS
39 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.89 MSH2
40 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.89 PMS2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.89 EPCAM LRRFIP2 KRAS MSH2 PMS2 POLE
42 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.89 APC
43 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.89 LRRFIP2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.89 EPCAM
45 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.89 POLD1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.89 POLE
47 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.89 EPCAM
48 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.89 KRAS
49 Decreased viability GR00055-A-2 10.28 BRAF KRAS
50 Decreased viability GR00106-A-0 10.28 KRAS

MGI Mouse Phenotypes related to Lynch Syndrome:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.41 BRAF CDKN2A BRCA1 APC BRCA2 EPCAM
2 homeostasis/metabolism MP:0005376 10.28 BRCA2 BRAF CDKN2A BRCA1 APC EPCAM
3 digestive/alimentary MP:0005381 10.27 BRAF CDKN2A BRCA1 APC BRCA2 EPCAM
4 endocrine/exocrine gland MP:0005379 10.27 BRCA2 BRAF CDKN2A BRCA1 APC EPCAM
5 hematopoietic system MP:0005397 10.25 BRCA2 BRAF CDKN2A BRCA1 APC EPCAM
6 mortality/aging MP:0010768 10.19 BRAF CDKN2A BRCA1 APC BRCA2 EPCAM
7 immune system MP:0005387 10.18 BRCA2 BRAF BRCA1 APC EPCAM EXO1
8 embryo MP:0005380 10.13 BRCA2 BRAF BRCA1 APC KRAS CDKN2A
9 integument MP:0010771 10.13 BRAF CDKN2A BRCA1 APC BRCA2 MLH1
10 neoplasm MP:0002006 10.09 BRAF CDKN2A BRCA1 APC BRCA2 MLH1
11 pigmentation MP:0001186 9.43 BRAF BRCA1 APC KRAS CDKN2A TP53
12 reproductive system MP:0005389 9.36 BRCA2 BRAF CDKN2A BRCA1 APC MLH1
Sources

Drugs & Therapeutics for Lynch Syndrome

About this section

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

(show top 50) (show all 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3,Phase 1 216974-75-3
2
Levonorgestrel Approved, Investigational Phase 3,Phase 2 797-63-7, 17489-40-6 13109
3
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
4
Fluorouracil Approved Phase 3 51-21-8 3385
5
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
6
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 6857599 5310940 9887054
7
Loperamide Approved Phase 3 53179-11-6 3955
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
10 Analgesics Phase 3,Phase 2,Phase 1
11 Analgesics, Non-Narcotic Phase 3,Phase 2,Phase 1
12 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
13 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Phase 1
14 Antirheumatic Agents Phase 3,Phase 2,Phase 1
15 Cyclooxygenase Inhibitors Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
17 Angiogenesis Inhibitors Phase 3,Phase 1
18 Angiogenesis Modulating Agents Phase 3,Phase 1
19 Endothelial Growth Factors Phase 3,Phase 1
20 Mitogens Phase 3,Phase 1
21 Contraceptive Agents Phase 3,Phase 2
22 Contraceptives, Oral Phase 3,Phase 2
23 Acetylsalicylic acid lysinate Phase 3
24 Antipyretics Phase 3
25 Fibrinolytic Agents Phase 3
26 Platelet Aggregation Inhibitors Phase 3
27 Antibodies Phase 3,Phase 2
28 Antibodies, Monoclonal Phase 3,Phase 2
29 Antidotes Phase 3
30 Antimetabolites Phase 3
31 Antimetabolites, Antineoplastic Phase 3
32 Bone Density Conservation Agents Phase 3
33 Calcium, Dietary Phase 3
34 Hematinics Phase 3
35 Immunoglobulins Phase 3,Phase 2
36 Immunosuppressive Agents Phase 3
37 Micronutrients Phase 3
38 Protective Agents Phase 3
39 Trace Elements Phase 3
40 Vitamin B Complex Phase 3
41 Vitamins Phase 3
42 Gastrointestinal Agents Phase 3
43 Antidiarrheals Phase 3
44 Cola Nutraceutical Phase 3,Phase 2
45 Folate Nutraceutical Phase 3
46 Vitamin B9 Nutraceutical Phase 3
47
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
48
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
49
Medroxyprogesterone acetate Approved, Investigational Phase 2 71-58-9
50
Norgestrel Approved Phase 2 6533-00-2 13109

Interventional clinical trials:

(show top 50) (show all 76)

# Name Status NCT ID Phase Drugs
1 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)
2 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
3 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
4 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3 Aspirin
5 Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma Not yet recruiting NCT02502370 Phase 3 observation alone;LV5FU2;FOLFOX
6 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
7 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
8 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
9 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
10 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Recruiting NCT03070574 Phase 2 Mesalamine 2400 MG;Mesalamine 1200 MG
11 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
12 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
13 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)
14 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
15 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, or Hypermutated Brain Tumors Recruiting NCT02359565 Phase 1
16 Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome Active, not recruiting NCT02052908 Phase 1 Naproxen
17 Hereditary Nonpolyposis Colorectal Cancer in Taiwan－Related Genetic Study and Clinical Applications Unknown status NCT00262171
18 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
19 Implementation of a New Strategy to Identify HNPCC Patients Unknown status NCT00141466
20 Hypodontia and Ovarian Cancer Unknown status NCT01470235
21 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
22 High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. Completed NCT02951390
23 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710
24 Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome Completed NCT00898768 Early Phase 1
25 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
26 Uncertain Genetic Test Results for Lynch Syndrome Completed NCT01646112
27 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210
28 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
29 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755
30 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
31 I-Scan For Colon Polyp Detection In HNPCC Completed NCT01823471
32 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505
33 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084
34 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
35 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424
36 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
37 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
38 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
39 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
40 Combined Colon and Endometrial Cancer Screening in Women With HNPCC Completed NCT00510796
41 Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer Recruiting NCT02494791
42 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
43 Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer Recruiting NCT03291106
44 Multi-Organ Screening Recommendations in Patients With Lynch Syndrome Recruiting NCT00582296
45 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
46 NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome Recruiting NCT02570516
47 Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes Recruiting NCT02371135
48 The GEOLynch Cohort Study Recruiting NCT03303833
49 The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC) Recruiting NCT01447199
50 Risk-Reducing Surgeries for Hereditary Ovarian Cancer Recruiting NCT03294343

Search NIH Clinical Center for Lynch Syndrome

Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Sources

Genetic Tests for Lynch Syndrome

About this section

Genetic tests related to Lynch Syndrome:

# Genetic test Affiliating Genes
1 Lynch Syndrome 28
2 Hereditary Nonpolyposis Colorectal Carcinoma 28
Sources

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

38
Colon, Testes, Brain, Skin, Small Intestine, Ovary, Liver
Sources

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50) (show all 782)
# Title Authors Year
1
Differences in histological features and PD-L1 expression between sporadic microsatellite instability and Lynch-syndrome-associated disease in Japanese patients with colorectal cancer. ( 29327160 )
2018
2
Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation. ( 29341452 )
2018
3
Inherited forms of bladder cancer: a review of Lynch syndrome and other inherited conditions. ( 29345160 )
2018
4
Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients. ( 29405992 )
2018
5
Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome. ( 29238914 )
2018
6
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. ( 29424427 )
2018
7
Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer. ( 29400022 )
2018
8
Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations. ( 29300371 )
2018
9
Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing. ( 28600700 )
2018
10
Same<i>MSH2</i>Gene Mutation But Variable Phenotypes in 2 Families With Lynch Syndrome: Two Case Reports and Review of Genotype-Phenotype Correlation. ( 29383008 )
2018
11
Response to letter to editor regarding published article-metachronous colorectal cancer following segmental or extended colectomy in Lynch syndrome: a systematic review and meta-analysis. ( 29450672 )
2018
12
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. ( 29345684 )
2018
13
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). ( 28510097 )
2017
14
A novel heterozygous germline deletion in MSH2 gene in a five generation Chinese family with Lynch syndrome. ( 28903413 )
2017
15
Frameshift mutational target gene analysis identifies similarities and differences in constitutional mismatch repair-deficiency and Lynch syndrome. ( 28218421 )
2017
16
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. ( 28874130 )
2017
17
Cancer Risk in Families Fulfilling the Amsterdam Criteria for Lynch Syndrome. ( 28772302 )
2017
18
Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer. ( 28847642 )
2017
19
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years. ( 28498244 )
2017
20
How does genetic risk information for Lynch syndrome translate to risk management behaviours? ( 28070225 )
2017
21
Uncertainties in the Management of a Lynch Syndrome Patient: A Case Report. ( 29255760 )
2017
22
Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing. ( 28932927 )
2017
23
Early gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome. ( 28501935 )
2017
24
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. ( 28481244 )
2017
25
Molecular testing for Lynch syndrome in people with colorectal cancer: systematic reviews and economic evaluation. ( 28895526 )
2017
26
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. ( 28065618 )
2017
27
Including Lynch syndrome in personalized prognostication and follow-up of stage II and III colon cancer. ( 28945832 )
2017
28
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. ( 28422960 )
2017
29
Importance of PCR-based Tumor Testing in the Evaluation of Lynch Syndrome-associated Endometrial Cancer. ( 28820751 )
2017
30
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. ( 28059100 )
2017
31
Differential expression of CK20, I^-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X. ( 28824332 )
2017
32
Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. ( 28489507 )
2017
33
Hereditary diffuse gastric cancer and lynch syndromes in a BRCA1/2 negative breast cancer patient. ( 28702897 )
2017
34
Corticotroph pituitary carcinoma in a patient with Lynch syndrome (LS) and pituitary tumors in a nationwide LS cohort. ( 28938458 )
2017
35
Universal Point of Care Testing for Lynch Syndrome in Patients with Upper Tract Urothelial Carcinoma. ( 28797715 )
2017
36
A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome. ( 29221446 )
2017
37
Association between the Lynch syndrome gene MSH2 and breast cancer susceptibility in a Canadian familial cancer registry. ( 28779004 )
2017
38
Comparison of lifestyle, hormonal and medical factors in women with sporadic and Lynch syndrome-associated endometrial cancer: A retrospective case-case study. ( 28529751 )
2017
39
Approach to Lynch Syndrome for the Gastroenterologist. ( 27990589 )
2017
40
Lynch Syndrome and Endometrial Cancer. ( 28376523 )
2017
41
A germline missense mutation in exon 3 of the MSH2 gene in a Lynch syndrome family: correlation with phenotype and localization assay. ( 28785832 )
2017
42
The silent mutation MLH1 c.543C>T resulting in aberrant splicing can cause Lynch syndrome: a case report. ( 28334867 )
2017
43
A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). ( 28460341 )
2017
44
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey. ( 28434157 )
2017
45
Investigating barriers to genetic counseling and germline mutation testing in women with suspected hereditary breast and ovarian cancer syndrome and Lynch syndrome. ( 29273311 )
2017
46
The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis. ( 28508326 )
2017
47
Using Social Media Data to Understand the Impact of Promotional Information on Laypeople's Discussions: A Case Study of Lynch Syndrome. ( 29237586 )
2017
48
Endoscopic detection rate of sessile serrated lesions in Lynch syndrome patients is comparable to an age- and gender-matched control population: case-control study with expert pathology review. ( 29233671 )
2017
49
The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. ( 27894169 )
2017
50
SURVEILLANCE COLONOSCOPY FOR LYNCH SYNDROME IN THE NORTHERN CAPE: DOES DIRECT CONTACT IMPROVE COMPLIANCE? ( 28876651 )
2017
Sources

Variations for Lynch Syndrome

About this section

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 1699)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh38 Chromosome 2, 47798634: 47798634
2 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
3 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
4 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
5 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
6 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
7 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
8 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh37 Chromosome 3, 37056000: 37056000
9 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
10 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
11 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
12 MLH1 MLH1, IVS5, G-A, -1 single nucleotide variant Pathogenic
13 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh38 Chromosome 3, 37040295: 37040302
14 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
15 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
16 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
17 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
18 MLH1 MLH1, EX16DEL deletion Pathogenic
19 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
20 MLH1 MLH1, -42C-T, PROMOTER single nucleotide variant Pathogenic
21 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
22 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
23 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
24 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh37 Chromosome 3, 37090446: 37090446
25 MLH1 MLH1, 3-BP DEL, 213AGA deletion Pathogenic
26 MLH1 MLH1, EX18DEL deletion Pathogenic
27 MLH1 MLH1, EPIGENETICALLY SILENCED undetermined variant Pathogenic
28 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
29 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
30 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 GRCh37 Chromosome 3, 37038193: 37038193
31 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 GRCh37 Chromosome 3, 37058999: 37058999
32 MLH1 MLH1, 11.6-KB DEL deletion Pathogenic
33 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 GRCh37 Chromosome 3, 37089143: 37089143
34 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 GRCh37 Chromosome 3, 37067470: 37067470
35 MLH1 NM_000249.3(MLH1): c.298C> T (p.Arg100Ter) single nucleotide variant Pathogenic rs63751221 GRCh37 Chromosome 3, 37042536: 37042536
36 MLH1 NM_000249.3(MLH1): c.454-1G> A single nucleotide variant Pathogenic rs193922370 GRCh37 Chromosome 3, 37050304: 37050304
37 MSH2 NM_000251.2(MSH2): c.1030C> T (p.Gln344Ter) single nucleotide variant Pathogenic rs63750245 GRCh37 Chromosome 2, 47643522: 47643522
38 MSH2 NM_000251.2(MSH2): c.1705_1706delGA (p.Glu569Ilefs) deletion Pathogenic rs63750393 GRCh37 Chromosome 2, 47698147: 47698148
39 MSH2 NM_000251.2(MSH2): c.2038C> T (p.Arg680Ter) single nucleotide variant Pathogenic rs63749932 GRCh37 Chromosome 2, 47703538: 47703538
40 MSH2 NM_000251.2(MSH2): c.860dupG (p.Gln288Thrfs) duplication Pathogenic/Likely pathogenic rs193922375 GRCh37 Chromosome 2, 47641475: 47641475
41 MSH2 NM_000251.2(MSH2): c.942+3A> T single nucleotide variant Pathogenic rs193922376 GRCh37 Chromosome 2, 47641560: 47641560
42 MSH6 NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh37 Chromosome 2, 48033395: 48033398
43 MSH6 NM_000179.2(MSH6): c.3173-1G> C single nucleotide variant Pathogenic/Likely pathogenic rs397515875 GRCh37 Chromosome 2, 48030558: 48030558
44 MSH6 NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs267608094 GRCh37 Chromosome 2, 48033780: 48033780
45 MSH6 NM_000179.2(MSH6): c.(?_-152)_(*93_?)del deletion Pathogenic GRCh37 Chromosome 2, 48010221: 48034092
46 MSH6 NM_000179.2(MSH6): c.(?_-152)_457+?del deletion Pathogenic GRCh37 Chromosome 2, 48010221: 48018262
47 MSH6 NM_000179.2(MSH6): c.-11863_457+1921del deletion Pathogenic NCBI36 Chromosome 2, 47852014: 47873687
48 MSH6 NM_000179.2(MSH6): c.-3097_457+2010del deletion Pathogenic GRCh37 Chromosome 2, 48007276: 48020272
49 MSH6 NM_000179.2(MSH6): c.1085delC (p.Pro362Leufs) deletion Pathogenic rs267608056 GRCh37 Chromosome 2, 48026207: 48026207
50 MSH6 NM_000179.2(MSH6): c.1101delT (p.His367Glnfs) deletion Pathogenic rs587779203 GRCh37 Chromosome 2, 48026223: 48026223

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

About this section
Search GEO for disease gene expression data for Lynch Syndrome.
Sources

Pathways for Lynch Syndrome

About this section

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

(show all 30)
# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 62
Show member pathways
 13.42 BRCA1 BRCA2 CDKN2A EXO1 MLH1 MLH3
2
DNA Double-Strand Break Repair 62
Show member pathways
 13.04 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
3
Endometrial cancer 36
Show member pathways
 12.99 APC BRAF BRCA1 BRCA2 CDKN2A KRAS
4
Regulation of TP53 Activity 62
Show member pathways
 12.97 BRCA1 CDKN2A EXO1 MLH1 MSH2 PMS2
5
TCR Signaling (Qiagen) 60
Show member pathways
 12.9 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
6
Gastric cancer 36
Show member pathways
 12.75 APC BRAF BRCA1 BRCA2 CDKN2A KRAS
7
Pathways in cancer 36
12.74 APC BRAF BRCA2 CDKN2A KRAS MLH1
8
Chks in Checkpoint Regulation 60
Show member pathways
 12.67 BRCA1 BRCA2 MSH2 MSH3 MSH6 POLD1
9
MicroRNAs in cancer 36
12.5 APC BRCA1 CDKN2A KRAS TP53
10
DNA Damage 4
12.5 BRCA1 BRCA2 CDKN2A MLH1 MSH2 MSH6
11
HTLV-I infection 36
12.43 APC CDKN2A KRAS POLD1 POLE TP53
12
Homologous DNA Pairing and Strand Exchange 62
Show member pathways
 12.3 BRCA1 BRCA2 EXO1 POLD1 POLE
13
Chronic myeloid leukemia 36
Show member pathways
 12.17 BRAF BRCA2 CDKN2A KRAS TP53
14
Integrated Breast Cancer Pathway 1
12.14 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
15
Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA) 62
Show member pathways
 12.12 BRCA1 BRCA2 EXO1 POLD1
16
Direct p53 effectors 1
12.09 APC MLH1 MSH2 PMS2 TP53
17
p53 Pathway (RnD) 61
12.09 CDKN2A KRAS MLH1 MSH2 TP53
18
DNA Damage Response (only ATM dependent) 1
11.98 APC CDKN2A KRAS TP53
19
Glioblastoma Multiforme 60
11.98 APC BRAF CDKN2A KRAS TP53
20
Colorectal Cancer Metastasis 60
11.98 APC BRAF KRAS MLH1 MSH2 MSH3
21
Fanconi anemia pathway 62 36
11.9 BRCA1 BRCA2 MLH1 PMS2
22
BRCA1 Pathway 60
Show member pathways
 11.81 BRCA1 BRCA2 MSH2 MSH6 TP53
23
Retinoblastoma (RB) in Cancer 1
11.77 MSH6 POLE TP53
24
Bladder cancer 36 1
11.76 BRAF CDKN2A KRAS TP53
25
MAPK Signaling: Oxidative Stress Pathway 61
11.72 BRAF KRAS TP53
26
Integrated Cancer Pathway 1
11.52 BRCA1 MSH2 MSH6 TP53
27
Doxorubicin Pathway, Pharmacokinetics 57
Show member pathways
 11.41 MLH1 MSH2 TP53
28
Platinum drug resistance 36
11.36 BRCA1 CDKN2A MLH1 MSH2 MSH3 MSH6
29
Mismatch repair 36 62 1
Show member pathways
 11.31 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
30
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 57
11.27 MLH1 MSH2 MSH6 PMS2
Sources

GO Terms for Lynch Syndrome

About this section

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 nucleoplasm GO:0005654 9.47 APC BRCA1 BRCA2 CDKN2A EXO1 MLH1
3 MutSalpha complex GO:0032301 9.4 MSH2 MSH6
4 MutSbeta complex GO:0032302 9.37 MSH2 MSH3
5 MutLalpha complex GO:0032389 9.33 MLH1 PMS1 PMS2
6 chiasma GO:0005712 9.32 MLH1 MLH3
7 mismatch repair complex GO:0032300 9.13 MLH1 MLH3 MSH2
8 nucleus GO:0005634 10.16 APC BRAF BRCA1 BRCA2 CDKN2A EXO1

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.92 BRCA1 EXO1 POLD1 POLE
2 cell cycle arrest GO:0007050 9.9 APC CDKN2A MSH2 TP53
3 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 EXO1 PMS2 POLD1 POLE
4 Ras protein signal transduction GO:0007265 9.82 CDKN2A KRAS TP53
5 double-strand break repair GO:0006302 9.81 BRCA1 BRCA2 MSH2
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.8 BRCA1 BRCA2 MLH1 MSH2 MSH6
7 response to UV GO:0009411 9.79 MSH6 POLD1 TP53
8 DNA synthesis involved in DNA repair GO:0000731 9.77 BRCA1 BRCA2 EXO1 POLD1 POLE
9 DNA repair GO:0006281 9.77 BRCA1 BRCA2 EXO1 MLH1 MLH3 MSH2
10 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.75 BRCA2 MSH2 TP53
11 strand displacement GO:0000732 9.74 BRCA1 BRCA2 EXO1
12 isotype switching GO:0045190 9.73 EXO1 MLH1 MSH2 MSH6
13 response to X-ray GO:0010165 9.71 BRCA2 MSH2 TP53
14 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.7 BRCA1 BRCA2 TP53
15 determination of adult lifespan GO:0008340 9.69 MSH2 MSH6 TP53
16 positive regulation of helicase activity GO:0051096 9.67 MSH2 MSH3 MSH6
17 positive regulation of cellular senescence GO:2000774 9.66 CDKN2A KRAS
18 postreplication repair GO:0006301 9.65 BRCA1 MSH2
19 replicative senescence GO:0090399 9.65 CDKN2A TP53
20 response to UV-B GO:0010224 9.65 MSH2 TP53
21 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH3 MSH6
22 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 EXO1 MLH1 MSH2 MSH6 PMS2
23 positive regulation of isotype switching to IgG isotypes GO:0048304 9.64 MLH1 MSH2
24 maintenance of DNA repeat elements GO:0043570 9.63 MSH2 MSH3 MSH6
25 somatic recombination of immunoglobulin gene segments GO:0016447 9.62 MLH1 MSH2 MSH3 MSH6
26 positive regulation of isotype switching to IgA isotypes GO:0048298 9.61 MLH1 MSH2
27 base-excision repair, gap-filling GO:0006287 9.61 POLD1 POLE
28 chordate embryonic development GO:0043009 9.59 BRCA1 BRCA2
29 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.56 MLH1 MSH2
30 DNA replication proofreading GO:0045004 9.55 POLD1 POLE
31 mismatch repair GO:0006298 9.32 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
32 positive regulation of gene expression GO:0010628 10.03 BRAF BRCA1 CDKN2A KRAS TP53
33 cellular response to DNA damage stimulus GO:0006974 10.03 APC BRCA1 BRCA2 EXO1 MLH1 MLH3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.95 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
2 iron-sulfur cluster binding GO:0051536 9.8 MUTYH POLD1 POLE
3 4 iron, 4 sulfur cluster binding GO:0051539 9.77 MUTYH POLD1 POLE
4 DNA-dependent ATPase activity GO:0008094 9.76 MSH2 MSH3 MSH6
5 damaged DNA binding GO:0003684 9.73 BRCA1 MSH2 MSH3 MSH6 POLD1 TP53
6 oxidized purine DNA binding GO:0032357 9.63 MSH2 MSH3 MSH6
7 Y-form DNA binding GO:0000403 9.62 MSH2 MSH3
8 centromeric DNA binding GO:0019237 9.61 MLH3 MSH2
9 LRR domain binding GO:0030275 9.61 KRAS LRRFIP2
10 MutLalpha complex binding GO:0032405 9.61 MSH2 MSH6 MUTYH
11 heteroduplex DNA loop binding GO:0000404 9.58 MSH2 MSH3
12 MutSalpha complex binding GO:0032407 9.58 MLH1 MUTYH PMS2
13 dinucleotide insertion or deletion binding GO:0032139 9.57 MSH2 MSH3
14 double-strand/single-strand DNA junction binding GO:0000406 9.55 MSH2 MSH3
15 single thymine insertion binding GO:0032143 9.54 MSH2 MSH6
16 single guanine insertion binding GO:0032142 9.54 MSH2 MSH3 MSH6
17 dinucleotide repeat insertion binding GO:0032181 9.52 MSH2 MSH3
18 single-stranded DNA binding GO:0003697 9.5 BRCA2 MLH1 MLH3 MSH2 MSH3 PMS1
19 guanine/thymine mispair binding GO:0032137 9.46 MLH1 MSH2 MSH3 MSH6
20 mismatched DNA binding GO:0030983 9.17 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
21 protein binding GO:0005515 10.49 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
22 ATP binding GO:0005524 10.21 BRAF MLH1 MLH3 MSH2 MSH3 MSH6
23 DNA binding GO:0003677 10.13 BRCA1 BRCA2 CDKN2A EXO1 MSH2 MSH3
24 chromatin binding GO:0003682 10.04 EXO1 MLH1 MLH3 MSH6 POLD1 POLE
25 enzyme binding GO:0019899 10 BRCA1 MSH2 MSH3 POLD1 TP53
Sources

Sources for Lynch Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....