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MCID: LYN001
MIFTS: 71

Lynch Syndrome

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

Aliases & Classifications for Lynch Syndrome

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MalaCards integrated aliases for Lynch Syndrome:

Name: Lynch Syndrome 12 76 24 53 25 29 55 6 15
Hereditary Nonpolyposis Colorectal Cancer 12 53 25 73
Hereditary Nonpolyposis Colorectal Carcinoma 29 6 73
Hnpcc 24 53 25
Hereditary Nonpolyposis Colorectal Neoplasms 25 73
Hereditary Nonpolyposis Colon Cancer 55 6
Familial Nonpolyposis Colon Cancer 53 25
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 73
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 44
Hereditary Non-Polyposis Colon Cancer Type 1 12
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Hereditary Nonpolyposis Colorectal Neoplasm 12
Colorectal Cancer, Hereditary Nonpolyposis 53
Hereditary Non-Polyposis Colon Cancer 24
Colon Cancer, Familial Nonpolyposis 53
Cancer Family Syndrome 25
Lynch Syndrome 1 53
Lynch Syndrome 2 53
Coca 1 12
Coca1 53

Characteristics:

HPO:

32
lynch syndrome:
Mortality/Aging death in infancy death in early adulthood


GeneReviews:

24
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
See all MalaCards categories (disease lists)


Sources

Summaries for Lynch Syndrome

About this section
NIH Rare Diseases : 53 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 muir-torre syndrome. An important gene associated with Lynch Syndrome is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. 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 visual impairment and depressivity

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 : 25 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 : 76 Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic... more...

GeneReviews: NBK1211
Sources

Related Diseases for Lynch Syndrome

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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 161)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 32.7 BRCA1 BRCA2 EPCAM EPM2AIP1 MLH1 MSH2
2 muir-torre syndrome 32.7 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 mismatch repair cancer syndrome 32.6 APC MLH1 MSH2 MSH6 PMS1 PMS2
4 gastric cancer 31.9 APC KRAS MLH1 MUTYH TGFBR2 TP53
5 familial colorectal cancer 31.2 APC MLH1 MSH2 MUTYH TP53
6 mutyh-associated polyposis 30.7 APC KRAS MUTYH TP53
7 colorectal adenoma 30.5 APC KRAS MLH1 MSH2 MUTYH TP53
8 ovarian cancer 30.5 BRAF BRCA1 BRCA2 EPCAM KRAS MLH1
9 adenocarcinoma 30.5 APC BRAF EPCAM KRAS MLH1 TGFBR2
10 colorectal adenocarcinoma 30.5 BRAF KRAS MLH1 MSH2 MSH6 TP53
11 gastric adenocarcinoma 30.1 APC BRAF KRAS MLH1 TP53
12 familial adenomatous polyposis 30.1 APC KRAS MLH1 MSH2 MSH3 MSH6
13 adenoma 30.1 APC BRAF KRAS MLH1 MSH2 MUTYH
14 ovarian cancer 1 29.6 BRCA1 BRCA2 KRAS TP53
15 li-fraumeni syndrome 29.6 BRCA1 BRCA2 MLH1 TP53
16 hereditary breast ovarian cancer syndrome 29.2 BRCA1 BRCA2 MLH1 MSH2 PMS1 TP53
17 endometrial cancer 28.0 BRAF BRCA1 BRCA2 KRAS MLH1 MLH3
18 breast cancer 28.0 APC BRAF BRCA1 BRCA2 EPCAM KRAS
19 colorectal cancer 26.4 APC BRAF BRCA1 BRCA2 EPCAM EXO1
20 colorectal cancer, hereditary nonpolyposis, type 8 12.4
21 colorectal cancer, hereditary nonpolyposis, type 6 12.4
22 colorectal cancer, hereditary nonpolyposis, type 4 12.4
23 colorectal cancer, hereditary nonpolyposis, type 5 12.4
24 colorectal cancer, hereditary nonpolyposis, type 2 12.3
25 colorectal cancer, hereditary nonpolyposis, type 7 12.3
26 pancreatic cancer 11.2
27 nevus of ota 11.0 BRAF TP53
28 skin benign neoplasm 11.0 MLH1 MSH2 MSH6
29 lower lip cancer 11.0 MLH1 MSH2
30 lip cancer 11.0 BRAF MSH2 TP53
31 gastric leiomyoma 11.0 MLH1 MSH3 MSH6
32 appendix carcinoid tumor 11.0 MLH1 MSH2 MSH6 PMS2
33 adenosquamous colon carcinoma 11.0 MLH1 MSH2 MSH6 PMS2
34 sebaceous adenoma 11.0 MLH1 MSH2 MSH6 PMS2
35 keratoacanthoma 11.0 MLH1 MSH2 TP53
36 bap1 tumor predisposition syndrome 10.9 BRCA2 PMS2
37 anal squamous cell carcinoma 10.9 APC MLH1 TP53
38 actinic cheilitis 10.9 MSH2 TP53
39 familial stomach cancer 10.9
40 rare adenocarcinoma of the breast 10.9 KRAS TP53
41 anal fistula 10.9 MLH1 MSH2
42 polyposis syndrome, hereditary mixed, 1 10.9 APC MLH1 MUTYH
43 mature teratoma 10.8 BRAF KRAS TP53
44 bile duct adenocarcinoma 10.8 EPCAM KRAS TP53
45 sebaceous adenocarcinoma 10.8 MLH1 MSH2 MSH6 PMS1 PMS2
46 skin melanoma 10.8 BRAF MLH1 PMS2 TP53
47 atypical polypoid adenomyoma 10.8 MLH1 PMS1
48 endometrial adenocarcinoma 10.8 KRAS MLH1 TP53
49 tetraploidy 10.8 BRCA2 TP53
50 skin squamous cell carcinoma 10.8 BRAF KRAS 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:

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

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

26 (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 KRAS EPCAM 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 KRAS LRRFIP2 EPCAM POLE MSH2 PMS2
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 KRAS BRCA1 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 KRAS BRCA1 MLH3 MSH2 PMS1
43 Decreased viability GR00381-A-1 10.4 BRAF KRAS
44 Decreased viability GR00402-S-2 10.4 BRAF KRAS BRCA1 MLH3 MSH2 PMS1
45 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 EXO1 BRAF BRCA1 BRCA2 MLH1 MLH3
46 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 EXO1 BRCA1 BRCA2 MLH1 POLE TP53
47 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 EXO1 BRAF BRCA1 BRCA2 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:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 TP53 PMS2 TGFBR2 MUTYH BRCA1 APC
2 homeostasis/metabolism MP:0005376 10.34 MUTYH TP53 PMS2 TGFBR2 BRCA1 APC
3 digestive/alimentary MP:0005381 10.29 TP53 PMS2 TGFBR2 APC BRCA2 BRAF
4 hematopoietic system MP:0005397 10.27 TP53 PMS2 POLE TGFBR2 BRCA1 APC
5 endocrine/exocrine gland MP:0005379 10.26 TP53 PMS2 TGFBR2 BRCA1 APC BRCA2
6 immune system MP:0005387 10.22 TP53 PMS2 POLE TGFBR2 BRCA1 APC
7 mortality/aging MP:0010768 10.16 MUTYH TP53 PMS2 POLE TGFBR2 BRCA1
8 integument MP:0010771 10.11 TP53 POLE BRCA1 APC BRCA2 BRAF
9 embryo MP:0005380 10.1 TP53 TGFBR2 BRCA1 APC BRCA2 BRAF
10 neoplasm MP:0002006 10.06 TP53 PMS1 PMS2 POLE TGFBR2 APC
11 liver/biliary system MP:0005370 9.87 TP53 PMS2 TGFBR2 APC BRAF EPM2AIP1
12 pigmentation MP:0001186 9.35 TP53 BRCA1 APC BRAF KRAS
13 reproductive system MP:0005389 9.32 TP53 PMS2 BRCA1 APC BRCA2 BRAF
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 75)
# 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 5310940 9887054 43805 6857599
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 Immunoglobulin G Phase 3
44 Antidiarrheals Phase 3
45 Cola Nutraceutical Phase 3,Phase 2,Not Applicable
46 Folate Nutraceutical Phase 3
47 Vitamin B9 Nutraceutical Phase 3
48
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
49 Estradiol valerate Approved, Investigational, Vet_approved Phase 2 979-32-8
50
Ethinyl Estradiol Approved Phase 2 57-63-6 5991

Interventional clinical trials:

(show top 50) (show all 80)
# 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, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma 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 Not Applicable
20 Hypodontia and Ovarian Cancer Unknown status NCT01470235
21 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841 Not Applicable
22 High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. Completed NCT02951390 Not Applicable
23 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710 Not Applicable
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 Ohio Colorectal Cancer Prevention Initiative Completed NCT01850654 Not Applicable
27 Uncertain Genetic Test Results for Lynch Syndrome Completed NCT01646112
28 NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome Completed NCT02570516 Not Applicable
29 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210 Not Applicable
30 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
31 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755 Not Applicable
32 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
33 I-Scan For Colon Polyp Detection In HNPCC Completed NCT01823471 Not Applicable
34 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505 Not Applicable
35 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084 Not Applicable
36 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
37 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424 Not Applicable
38 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
39 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
40 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
41 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
42 General Practitioners (GP) Involvement in Colorectal Cancer (CRC) Screening Completed NCT01364454 Early Phase 1
43 Combined Colon and Endometrial Cancer Screening in Women With HNPCC Completed NCT00510796
44 Universal Screening for Lynch Syndrome in Women With Endometrial and Non-Serous Ovarian Cancer Recruiting NCT02494791 Not Applicable
45 Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer Recruiting NCT03291106
46 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
47 Multi-Organ Screening Recommendations in Patients With Lynch Syndrome Recruiting NCT00582296
48 Linked Color Imaging Versus High-definition White Light Endoscopy for the Detection of Polyps in Patients With Lynch Syndrome (LCI-LYNCH) Recruiting NCT03344289 Not Applicable
49 Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes Recruiting NCT02371135
50 CYCling Lynch Patients for Exercise and Prevention: CYCLE-P Recruiting NCT03495674 Not Applicable

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 29
2 Hereditary Nonpolyposis Colorectal Carcinoma 29
Sources

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

41
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 831)
# Title Authors Year
1
Histology of colorectal adenocarcinoma with double somatic mismatch repair mutations is indistinguishable from those caused by lynch syndrome. ( 29723603 )
2018
2
Physical activity and the risk of colorectal cancer in Lynch syndrome. ( 29904935 )
2018
3
Characteristics of Lynch syndrome associated ovarian cancer. ( 29880284 )
2018
4
Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations. ( 29300371 )
2018
5
A novel <i>MLH1</i> intronic variant in a young Japanese patient with Lynch syndrome. ( 29760937 )
2018
6
Is universal tumor testing for Lynch syndrome cost-effective? It depends! ( 29765139 )
2018
7
A Chinese family affected by lynch syndrome caused by MLH1 mutation. ( 29929473 )
2018
8
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review. ( 29783979 )
2018
9
Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency. ( 29967423 )
2018
10
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
11
Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis. ( 29882764 )
2018
12
Characterization of novel, large duplications in the MSH2 gene of three unrelated Lynch syndrome patients. ( 29405992 )
2018
13
Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation. ( 29790873 )
2018
14
Lynch syndrome: much progress but many questions remain. ( 29879721 )
2018
15
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 )
2018
16
DNA mismatch repair protein deficient non-neoplastic colonic crypts: a novel indicator of Lynch syndrome. ( 29884888 )
2018
17
Lynch Syndrome-associated Upper Tract Urothelial Carcinoma. ( 29958964 )
2018
18
Impact of an optimized colonoscopic screening program for patients with Lynch syndrome: 6-year results of a specialized French network. ( 29872454 )
2018
19
Co-occurrence of Lynch syndrome and juvenile polyposis syndrome confirmed by multigene panel testing. ( 28600700 )
2018
20
Recent progress in Lynch syndrome and other familial colorectal cancer syndromes. ( 29485237 )
2018
21
Patient with Lynch syndrome with subsequent development of small bowel adenocarcinoma. ( 29866690 )
2018
22
MSH6 and PMS2 germ-line pathogenic variants implicated in Lynch syndrome are associated with breast cancer. ( 29345684 )
2018
23
Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews. ( 29760830 )
2018
24
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
25
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
26
Molecular subtype classification of urothelial carcinoma in Lynch syndrome. ( 29791078 )
2018
27
Clinical and Genetic Implications of DNA Mismatch Repair Deficiency in Biliary Tract Cancers Associated with Lynch Syndrome. ( 29238914 )
2018
28
Lynch Syndrome Linked with More Cancers. ( 29871860 )
2018
29
Contribution of MLH1 constitutional methylation for Lynch syndrome diagnosis in patients with tumor MLH1 downregulation. ( 29341452 )
2018
30
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. ( 29651783 )
2018
31
Inherited forms of bladder cancer: a review of Lynch syndrome and other inherited conditions. ( 29345160 )
2018
32
Screening for Lynch syndrome using risk assessment criteria in patients with ovarian cancer. ( 29400022 )
2018
33
Three molecular pathways model colorectal carcinogenesis in Lynch syndrome. ( 29424427 )
2018
34
Medical Devices; Hematology and Pathology Devices; Classification of Lynch Syndrome Test Systems. Final order. ( 29932614 )
2018
35
Association of patient navigation with care coordination in an Lynch syndrome screening program. ( 29800403 )
2018
36
Approach to Lynch Syndrome for the Gastroenterologist. ( 27990589 )
2017
37
The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. ( 27894169 )
2017
38
Ectopic, retroperitoneal adrenocortical carcinoma in the setting of Lynch syndrome. ( 28940135 )
2017
39
Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study. ( 28525912 )
2017
40
Identifying &amp;quot;ownership&amp;quot; through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome. ( 28471433 )
2017
41
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years. ( 28498244 )
2017
42
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
43
Inflammatory potential of the diet and colorectal tumor risk in persons with Lynch syndrome. ( 28931533 )
2017
44
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. ( 28514183 )
2017
45
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. ( 28422960 )
2017
46
Clinical characteristics of Lynch-like cases collaterally classified by Lynch syndrome identification strategy using universal screening in endometrial cancer. ( 28847642 )
2017
47
Uncertainties in the Management of a Lynch Syndrome Patient: A Case Report. ( 29255760 )
2017
48
Screening for germline mutations in mismatch repair genes in patients with Lynch syndrome by next generation sequencing. ( 28932927 )
2017
49
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). ( 28510097 )
2017
50
Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: A systematic review and meta-analysis. ( 28407411 )
2017
Sources

Variations for Lynch Syndrome

About this section

ClinVar genetic disease variations for Lynch Syndrome:

6
(show top 50) (show all 10411)
# 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 rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
16 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh38 Chromosome 2, 47408458: 47408479
17 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh37 Chromosome 2, 47702310: 47702310
18 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh38 Chromosome 2, 47475171: 47475171
19 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320
20 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh38 Chromosome 2, 47410181: 47410181
21 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh38 Chromosome 2, 47798634: 47798634
22 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
23 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
24 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh38 Chromosome 7, 6002590: 6002590
25 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
26 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh38 Chromosome 7, 5987544: 5987544
27 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
28 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh38 Chromosome 7, 5977629: 5977629
29 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
30 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh37 Chromosome 7, 6029554: 6029554
31 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
32 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh38 Chromosome 7, 5986883: 5986883
33 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
34 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh38 Chromosome 7, 6005918: 6005918
35 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
36 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh38 Chromosome 3, 36996633: 36996633
37 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
38 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh38 Chromosome 3, 37047639: 37047641
39 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
40 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh38 Chromosome 3, 37020411: 37020411
41 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
42 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh38 Chromosome 3, 37012098: 37012098
43 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
44 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh38 Chromosome 3, 36996701: 36996701
45 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
46 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh38 Chromosome 3, 37004444: 37004444
47 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
48 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh38 Chromosome 3, 37048562: 37048562
49 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
50 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh38 Chromosome 3, 37017521: 37017521

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 29)
# Super pathways Score Top Affiliating Genes
1
DNA Double-Strand Break Repair 66
Show member pathways
 13.15 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
2
Regulation of TP53 Activity 66
Show member pathways
 12.91 BRCA1 EXO1 MLH1 MSH2 PMS2 TP53
3
TCR Signaling (Qiagen) 64
Show member pathways
 12.89 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
4
Endometrial cancer 37
Show member pathways
 12.77 APC BRAF BRCA2 KRAS MLH1 MSH2
5
Glioma 37
Show member pathways
 12.71 BRAF BRCA1 BRCA2 KRAS MSH6 TP53
6
Gastric cancer 37
Show member pathways
 12.7 APC BRAF BRCA1 BRCA2 KRAS MLH1
7
Chks in Checkpoint Regulation 64
Show member pathways
 12.68 BRCA1 BRCA2 MSH2 MSH3 MSH6 POLE
8
Pathways in cancer 37
12.68 APC BRAF BRCA2 KRAS MLH1 MSH2
9
DNA Damage 4
12.47 BRCA1 BRCA2 MLH1 MSH2 MSH6 MUTYH
10
Meiosis 66
Show member pathways
 12.41 BRCA1 BRCA2 MLH1 MLH3
11
mTOR signaling pathway (KEGG) 65
Show member pathways
 12.4 APC BRAF KRAS TP53
12
HTLV-I infection 37
12.38 APC KRAS POLE TGFBR2 TP53
13
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.22 BRCA1 BRCA2 EXO1 POLE
14
mTOR Pathway 72
Show member pathways
 12.11 BRAF KRAS TGFBR2 TP53
15
Direct p53 effectors 1
12.07 APC MLH1 MSH2 PMS2 TP53
16
Integrated Breast Cancer Pathway 1
11.95 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
17
Glioblastoma Multiforme 64
11.93 APC BRAF KRAS TP53
18
Fanconi anemia pathway 66 37
11.83 BRCA1 BRCA2 MLH1 PMS2
19
Colorectal Cancer Metastasis 64
11.83 APC BRAF KRAS MLH1 MSH2 MSH3
20
TGF-beta Signaling Pathways 65
11.79 BRAF KRAS TGFBR2
21
BRCA1 Pathway 64
Show member pathways
 11.79 BRCA1 BRCA2 MSH2 MSH6 TP53
22
Retinoblastoma (RB) in Cancer 1
11.75 MSH6 POLE TP53
23
Platinum drug resistance 37
11.71 BRCA1 MLH1 MSH2 MSH3 MSH6 TP53
24
Bladder cancer 37 1
11.66 BRAF KRAS TP53
25
Integrated Cancer Pathway 1
11.5 BRCA1 MSH2 MSH6 TP53
26
Doxorubicin Pathway, Pharmacokinetics 61
Show member pathways
 11.38 MLH1 MSH2 TP53
27
Mismatch repair 37 66 1
Show member pathways
 11.27 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
28
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 61
11.26 MLH1 MSH2 MSH6 PMS2
29
Extracellular vesicle-mediated signaling in recipient cells 1
11.24 APC KRAS TGFBR2
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 nucleoplasm GO:0005654 9.97 APC BRCA1 BRCA2 EPM2AIP1 EXO1 MLH1
2 condensed nuclear chromosome GO:0000794 9.58 BRCA1 MLH1 MLH3
3 male germ cell nucleus GO:0001673 9.46 MLH1 MLH3
4 MutSalpha complex GO:0032301 9.37 MSH2 MSH6
5 MutSbeta complex GO:0032302 9.32 MSH2 MSH3
6 chiasma GO:0005712 9.26 MLH1 MLH3
7 mismatch repair complex GO:0032300 9.17 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
8 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
9 nucleus GO:0005634 10.31 APC BRAF BRCA1 BRCA2 EPM2AIP1 EXO1

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.92 BRAF BRCA1 BRCA2 TGFBR2
2 DNA synthesis involved in DNA repair GO:0000731 9.81 BRCA1 BRCA2 EXO1 POLE
3 double-strand break repair GO:0006302 9.78 BRCA1 BRCA2 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 BRCA1 BRCA2 MLH1 MSH2 MSH6
5 reciprocal meiotic recombination GO:0007131 9.76 MLH1 MLH3 MSH3
6 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.75 BRCA2 MSH2 TP53
7 strand displacement GO:0000732 9.74 BRCA1 BRCA2 EXO1
8 DNA repair GO:0006281 9.73 BRCA1 BRCA2 EXO1 MLH1 MLH3 MSH2
9 response to X-ray GO:0010165 9.72 BRCA2 MSH2 TP53
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.71 BRCA1 BRCA2 TP53
11 isotype switching GO:0045190 9.71 EXO1 MLH1 MSH2 MSH6
12 determination of adult lifespan GO:0008340 9.7 MSH2 MSH6 TP53
13 positive regulation of helicase activity GO:0051096 9.67 MSH2 MSH3 MSH6
14 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH3 MSH6
15 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 EXO1 MLH1 MSH2 MSH6 PMS2
16 maintenance of DNA repeat elements GO:0043570 9.63 MSH2 MSH3 MSH6
17 postreplication repair GO:0006301 9.62 BRCA1 MSH2
18 somatic recombination of immunoglobulin gene segments GO:0016447 9.62 MLH1 MSH2 MSH3 MSH6
19 positive regulation of isotype switching to IgG isotypes GO:0048304 9.61 MLH1 MSH2
20 meiotic mismatch repair GO:0000710 9.61 MSH2 MSH3 MSH6
21 positive regulation of isotype switching to IgA isotypes GO:0048298 9.6 MLH1 MSH2
22 chordate embryonic development GO:0043009 9.59 BRCA1 BRCA2
23 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.56 MLH1 MSH2
24 mismatch repair GO:0006298 9.28 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
25 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 24)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.97 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
2 DNA-dependent ATPase activity GO:0008094 9.77 MSH2 MSH3 MSH6
3 damaged DNA binding GO:0003684 9.72 BRCA1 MSH2 MSH3 MSH6 TP53
4 MutLalpha complex binding GO:0032405 9.63 MSH2 MSH6 MUTYH
5 four-way junction DNA binding GO:0000400 9.62 MSH2 MSH6
6 Y-form DNA binding GO:0000403 9.61 MSH2 MSH3
7 centromeric DNA binding GO:0019237 9.61 MLH3 MSH2
8 MutSalpha complex binding GO:0032407 9.61 MLH1 MUTYH PMS2
9 LRR domain binding GO:0030275 9.6 KRAS LRRFIP2
10 dinucleotide insertion or deletion binding GO:0032139 9.58 MSH2 MSH3
11 heteroduplex DNA loop binding GO:0000404 9.58 MSH2 MSH3
12 single guanine insertion binding GO:0032142 9.58 MSH2 MSH3 MSH6
13 single thymine insertion binding GO:0032143 9.57 MSH2 MSH6
14 double-strand/single-strand DNA junction binding GO:0000406 9.56 MSH2 MSH3
15 oxidized purine DNA binding GO:0032357 9.56 MSH2 MSH3 MSH6 MUTYH
16 dinucleotide repeat insertion binding GO:0032181 9.55 MSH2 MSH3
17 single base insertion or deletion binding GO:0032138 9.54 MSH2 MSH6 PMS2
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 10.5 APC BRAF BRCA1 BRCA2 EPCAM EPM2AIP1
22 DNA binding GO:0003677 10.26 BRCA1 BRCA2 EPM2AIP1 EXO1 MSH2 MSH3
23 ATP binding GO:0005524 10.21 BRAF MLH1 MLH3 MSH2 MSH3 MSH6
24 chromatin binding GO:0003682 10.01 EXO1 MLH1 MLH3 MSH6 POLE TP53
Sources

Sources for Lynch Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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
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