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COCA1
MCID: LYN001
MIFTS: 72

Lynch Syndrome (COCA1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin 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 77 25 54 26 30 56 6 15
Hereditary Nonpolyposis Colorectal Cancer 12 54 26 74
Hereditary Nonpolyposis Colorectal Carcinoma 30 6 74
Hnpcc 25 54 26
Hereditary Nonpolyposis Colorectal Neoplasms 26 74
Hereditary Nonpolyposis Colon Cancer 56 6
Familial Nonpolyposis Colon Cancer 54 26
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 74
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 45
Hereditary Non-Polyposis Colon Cancer Type 1 12
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Cancer, Colorectal, Nonpolyposis, Hereditary 41
Hereditary Nonpolyposis Colorectal Neoplasm 12
Colorectal Cancer, Hereditary Nonpolyposis 54
Hereditary Non-Polyposis Colon Cancer 25
Colon Cancer, Familial Nonpolyposis 54
Cancer Family Syndrome 26
Lynch Syndrome 1 54
Lynch Syndrome 2 54
Coca 1 12
Coca1 54

Characteristics:

HPO:

33
lynch syndrome:
Mortality/Aging death in infancy death in early adulthood


GeneReviews:

25
Penetrance Penetrance of crcs and extracolonic cancers associated with pathogenic variants in an mmr gene or epcam is less than 100% (see table 3). therefore, some individuals with a cancer-predisposing pathogenic variant in an mmr gene or epcam may never develop cancer...

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Cancer diseases
Anatomical: Gastrointestinal diseases Skin diseases Nephrological diseases
See all MalaCards categories (disease lists)


Sources

Summaries for Lynch Syndrome

About this section
NIH Rare Diseases : 54 Lynch syndromeis a genetic disorder that causes an increased risk of developing certain types of cancer such as colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Women with Lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. Even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with Lynch syndrome may occasionally have colon polyps. Lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the MLH1, MSH2, MSH6, PMS2 or EPCAM gene. Treatment of colon cancer is surgical removal of the affected part of the colon (colectomy). People with Lynch syndrome should have routine colonoscopies.

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

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

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

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

GeneReviews: NBK1211
Sources

Related Diseases for Lynch Syndrome

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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 206)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 33.6 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
2 muir-torre syndrome 32.7 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
3 colorectal cancer, hereditary nonpolyposis, type 7 32.3 MLH1 MLH3 MSH2
4 colorectal cancer, hereditary nonpolyposis, type 4 32.3 MLH1 MSH2 PMS2
5 colorectal cancer, hereditary nonpolyposis, type 5 32.3 MLH1 MSH2 MSH6
6 mismatch repair cancer syndrome 32.2 APC MLH1 MSH2 MSH6 PMS1 PMS2
7 gastric cancer 32.0 APC KRAS MLH1 MSH2 MUTYH TGFBR2
8 ovarian cancer 31.4 BRAF BRCA1 BRCA2 EPCAM KRAS MLH1
9 appendix carcinoid tumor 30.9 MLH1 MSH2 MSH6 PMS2
10 adenocarcinoma 30.8 APC BRAF EPCAM KRAS MLH1 TGFBR2
11 attenuated familial adenomatous polyposis 30.8 APC MSH2 MSH6 MUTYH
12 familial colorectal cancer 30.7 APC MLH1 MSH2 MUTYH POLE TGFBR2
13 hyperplastic polyposis syndrome 30.5 APC BRAF KRAS MUTYH TP53
14 familial adenomatous polyposis 30.4 APC KRAS MLH1 MSH2 MSH3 MSH6
15 colorectal adenocarcinoma 30.4 BRAF KRAS MLH1 MSH2 MSH6 TP53
16 transitional cell carcinoma 30.4 BRAF MSH2 TP53
17 adenoma 30.3 APC BRAF KRAS MLH1 MSH2 MUTYH
18 mutyh-associated polyposis 30.3 APC KRAS MUTYH TP53
19 colon adenocarcinoma 30.1 APC KRAS MLH1 MSH6
20 rhabdomyosarcoma 30.1 BRCA1 MSH2 MSH6 PMS2 TP53
21 colorectal adenoma 30.1 APC KRAS MLH1 MSH2 MUTYH TP53
22 ovarian cancer 1 30.1 BRCA1 BRCA2 KRAS TP53
23 gastric adenocarcinoma 30.0 APC BRAF EPCAM KRAS MLH1 TGFBR2
24 li-fraumeni syndrome 29.9 BRCA1 BRCA2 MLH1 TP53
25 endometrial cancer 29.8 BRAF BRCA1 BRCA2 KRAS MLH1 MLH3
26 hereditary breast ovarian cancer syndrome 29.8 BRCA1 BRCA2 MLH1 MSH6 TP53
27 colorectal cancer 29.6 APC BRAF BRCA1 BRCA2 EPCAM KRAS
28 breast cancer 29.4 APC BRAF BRCA1 BRCA2 EPCAM KRAS
29 pancreatic cancer 11.4
30 colorectal cancer, hereditary nonpolyposis, type 2 11.0
31 colorectal cancer, hereditary nonpolyposis, type 8 11.0
32 colorectal cancer, hereditary nonpolyposis, type 6 11.0
33 familial stomach cancer 11.0
34 spindle cell intraocular melanoma 10.5 MLH1 PMS2
35 nevus of ota 10.5 BRAF TP53
36 skin benign neoplasm 10.5 MLH1 MSH2 MSH6
37 keratoacanthoma 10.5 MLH1 MSH2 TP53
38 gastric leiomyoma 10.5 MLH1 MSH3 MSH6
39 adenosquamous colon carcinoma 10.5 MLH1 MSH2 MSH6 PMS2
40 sebaceous adenoma 10.5 MLH1 MSH2 MSH6 PMS2
41 lower lip cancer 10.5 MLH1 MSH2
42 anal squamous cell carcinoma 10.4 APC MLH1 TP53
43 benign childhood occipital epilepsy, gastaut type 10.4
44 lip cancer 10.4 MSH2 TP53
45 actinic cheilitis 10.4 MSH2 TP53
46 polyposis syndrome, hereditary mixed, 1 10.4 APC MLH1 MUTYH
47 testicular germ cell tumor 10.4 BRAF MSH2 TP53
48 sebaceous adenocarcinoma 10.4 MLH1 MSH2 MSH6 PMS1 PMS2
49 colorectal cancer 5 10.4 MLH1 MSH6
50 mature teratoma 10.4 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:

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

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

27 (show all 49)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.64 LRRFIP2 PMS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.64 KRAS
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 10.64 MSH2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.64 KRAS
5 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.64 POLE
6 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.64 EPCAM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.64 LRRFIP2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.64 MSH2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.64 EPCAM
10 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.64 PMS2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.64 EPCAM KRAS POLE
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.64 LRRFIP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.64 EPCAM MSH2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.64 KRAS LRRFIP2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.64 PMS2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.64 KRAS
17 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.64 PMS2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.64 POLE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.64 PMS2 POLE
20 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.64 MSH2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.64 KRAS
22 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.64 KRAS
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.64 EPCAM
24 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.64 POLE
25 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.64 MSH2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.64 MSH2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.64 KRAS PMS2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.64 KRAS
29 Increased shRNA abundance (Z-score > 2) GR00366-A-54 10.64 MSH2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-56 10.64 PMS2
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.64 EPCAM KRAS LRRFIP2 MSH2 PMS2 POLE
32 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.64 LRRFIP2
33 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.64 EPCAM
34 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.64 POLE
35 Increased shRNA abundance (Z-score > 2) GR00366-A-92 10.64 EPCAM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.64 KRAS
37 Decreased viability GR00055-A-2 10.4 BRAF KRAS
38 Decreased viability GR00106-A-0 10.4 KRAS
39 Decreased viability GR00221-A-1 10.4 KRAS PMS1
40 Decreased viability GR00221-A-2 10.4 BRCA1 KRAS PMS1
41 Decreased viability GR00221-A-3 10.4 BRCA1
42 Decreased viability GR00221-A-4 10.4 BRAF
43 Decreased viability GR00301-A 10.4 BRAF BRCA1 KRAS MLH3 MSH2 PMS1
44 Decreased viability GR00381-A-1 10.4 BRAF KRAS
45 Decreased viability GR00402-S-2 10.4 BRAF BRCA1 KRAS MLH3 MSH2 PMS1
46 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 BRAF BRCA1 BRCA2 EXO1 MLH1 MLH3
47 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 BRCA1 BRCA2 EXO1 MLH1 POLE TP53
48 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 BRAF BRCA1 BRCA2 EXO1 MLH1 POLE
49 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 APC BRAF BRCA1 BRCA2 MSH2 TGFBR2

MGI Mouse Phenotypes related to Lynch Syndrome:

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

Drugs & Therapeutics for Lynch Syndrome

About this section

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
2 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
3 Central Nervous System Depressants Phase 4
4 Anti-Arrhythmia Agents Phase 4
5 Sodium Channel Blockers Phase 4
6 Anesthetics Phase 4
7 Anesthetics, Local Phase 4
8 Diuretics, Potassium Sparing Phase 4
9
Bevacizumab Approved, Investigational Phase 3,Phase 1 216974-75-3
10
Levonorgestrel Approved, Investigational Phase 3,Phase 2 17489-40-6, 797-63-7 13109
11
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
12
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
13
Fluorouracil Approved Phase 3 51-21-8 3385
14
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 6857599 5310940 9887054 43805
15
leucovorin Approved Phase 3 58-05-9 6006 143
16
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
17
Loperamide Approved Phase 3 53179-11-6 3955
18
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
19
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
20 Cola Phase 3,Phase 2,Not Applicable
21 Antirheumatic Agents Phase 3,Phase 2,Phase 1
22 Analgesics, Non-Narcotic Phase 3,Phase 2,Phase 1
23 Analgesics Phase 3,Phase 2,Phase 1
24 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Phase 1
25 Cyclooxygenase Inhibitors Phase 3,Phase 1
26 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
27 Hormones Phase 3,Phase 2
28 Mitogens Phase 3,Phase 1
29 Endothelial Growth Factors Phase 3,Phase 1
30 Antineoplastic Agents, Immunological Phase 3,Phase 2,Phase 1
31 Angiogenesis Modulating Agents Phase 3,Phase 1
32 Angiogenesis Inhibitors Phase 3,Phase 1
33 Contraceptive Agents Phase 3,Phase 2
34 Contraceptives, Oral Phase 3,Phase 2
35 Gastrointestinal Agents Phase 3
36 Platelet Aggregation Inhibitors Phase 3
37 Acetylsalicylic acid lysinate Phase 3
38 Antipyretics Phase 3
39 Fibrinolytic Agents Phase 3
40 Bone Density Conservation Agents Phase 3
41 Immunoglobulins Phase 3
42 Hematinics Phase 3
43 Antidotes Phase 3
44 Nutrients Phase 3
45 Vitamin B Complex Phase 3
46 Antibodies, Monoclonal Phase 3
47 Antimetabolites Phase 3
48 Trace Elements Phase 3
49 Immunosuppressive Agents Phase 3
50 Vitamins Phase 3

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Pain Outcomes Following Intralesional Corticosteroid Injections Recruiting NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Recruiting NCT02813824 Phase 3 Acetylsalicylic acid lysinate 300 mg;Placebo (for Aspirin 300);Acetylsalicylic acid lysinate 100 mg;Placebo 100 (for Aspirin 100)
3 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair Recruiting NCT02912559 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
4 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
5 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3 Aspirin
6 Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma Not yet recruiting NCT02502370 Phase 3 observation alone;LV5FU2;FOLFOX
7 Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome Terminated NCT00566644 Phase 3
8 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
9 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
10 Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
11 Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy Recruiting NCT03631641 Phase 2
12 Study of TVEC in Patients With Cutaneous Squamous Cell Cancer Recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
13 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
14 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
15 Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE) Not yet recruiting NCT03831698 Phase 2 Omega-3 fatty acid ethyl esters (2 gram)
16 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Suspended NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
17 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
18 Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and Carriers Completed NCT00001693 Phase 1 Celecoxib (SC-58635)
19 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma Recruiting NCT02359565 Phase 1
20 Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome Active, not recruiting NCT02052908 Phase 1 Naproxen
21 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
22 Hereditary Nonpolyposis Colorectal Cancer in Taiwan－Related Genetic Study and Clinical Applications Unknown status NCT00262171
23 Implementation of a New Strategy to Identify HNPCC Patients Unknown status NCT00141466 Not Applicable
24 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
25 Hypodontia and Ovarian Cancer Unknown status NCT01470235
26 Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Completed NCT03047226
27 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841 Not Applicable
28 High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. Completed NCT02951390 Not Applicable
29 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710 Not Applicable
30 Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome Completed NCT00898768 Early Phase 1
31 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
32 Ohio Colorectal Cancer Prevention Initiative Completed NCT01850654 Not Applicable
33 Uncertain Genetic Test Results for Lynch Syndrome Completed NCT01646112
34 NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome Completed NCT02570516 Not Applicable
35 I-Scan For Colon Polyp Detection In HNPCC Completed NCT01823471 Not Applicable
36 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505 Not Applicable
37 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084 Not Applicable
38 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210 Not Applicable
39 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
40 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
41 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Completed NCT02703545
42 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755 Not Applicable
43 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
44 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
45 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
46 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424 Not Applicable
47 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
48 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
49 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327
50 General Practitioners (GP) Involvement in Colorectal Cancer (CRC) Screening Completed NCT01364454 Early Phase 1

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 30
2 Hereditary Nonpolyposis Colorectal Carcinoma 30
Sources

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

42
Colon, Testes, Skin, Brain, Small Intestine, Ovary, Liver
Sources

Publications for Lynch Syndrome

About this section

Articles related to Lynch Syndrome:

(show top 50) (show all 1565)
# Title Authors Year
1
A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome. ( 30723761 )
2019
2
The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome. ( 30638287 )
2019
3
Oral tongue cancer in a patient with hereditary nonpolyposis colorectal cancer: A case report and review of the literature. ( 30885722 )
2019
4
Total abdominal colectomy is cost-effective in treating colorectal cancer in patients with genetically diagnosed Lynch Syndrome. ( 30904142 )
2019
5
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome. ( 30877237 )
2019
6
Adherence to guidelines for the referral of patients with colorectal cancer and abnormal tumour tissue testing for assessment of Lynch syndrome. ( 30856687 )
2019
7
Lynch-like syndrome is as frequent as Lynch syndrome in early-onset non-familial non-polyposis colorectal cancer. ( 30693488 )
2019
8
The Impact of Universal Immunohistochemistry on Lynch Syndrome Diagnosis in an Australian Colorectal Cancer Cohort. ( 30667141 )
2019
9
Immunoprofiles of colorectal cancer from Lynch syndrome. ( 30546958 )
2019
10
Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2. ( 30816297 )
2019
11
Impact of gene-specific germline pathogenic variants on presentation of endometrial cancer in Lynch syndrome. ( 30772826 )
2019
12
A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips? ( 30863719 )
2019
13
Lynch Syndrome: From Screening to Diagnosis to Treatment in the Era of Modern Molecular Oncology. ( 30848956 )
2019
14
Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report. ( 30858900 )
2019
15
Genetics, diagnosis and treatment of Lynch syndrome: Old lessons and current challenges. ( 30867733 )
2019
16
Women's preferences for cancer risk management strategies in Lynch syndrome. ( 30876497 )
2019
17
The single-base-pair deletion, MSH2 c.2635-3delC affecting intron 15 splicing can be a cause of Lynch syndrome. ( 30882153 )
2019
18
Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype. ( 30916491 )
2019
19
Universal screening of Lynch syndrome is ready for implementation. ( 29740168 )
2019
20
Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome. ( 30276639 )
2019
21
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. ( 30376427 )
2019
22
Duodenal tumor risk in Lynch syndrome. ( 30448460 )
2019
23
Pseudomyxoma Peritonei After a Total Pancreatectomy for Intraductal Papillary Mucinous Neoplasm With Colloid Carcinoma in Lynch Syndrome. ( 30531244 )
2019
24
Tumor Testing for Microsatellite Instability to Identify Lynch Syndrome: New Insights Into an Old Diagnostic Strategy. ( 30550362 )
2019
25
DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression. ( 30578081 )
2019
26
A frameshift mutation in exon 19 of MLH1 in a Chinese Lynch syndrome family: a pedigree study. ( 30614234 )
2019
27
Targeted RNA-seq successfully identifies normal and pathogenic splicing events in breast/ovarian cancer susceptibility and Lynch syndrome genes. ( 30623411 )
2019
28
Recent advances in Lynch syndrome. ( 30627969 )
2019
29
Challenges and Opportunities for Cancer Predisposition Cascade Screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland: Findings from an International Workshop. ( 30695780 )
2019
30
Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process. ( 30702970 )
2019
31
RNA Genetic Testing Identifies Germline Pathogenic MSH2 Tandem Duplications in Lynch Syndrome Patients. ( 30710526 )
2019
32
Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting. ( 30729418 )
2019
33
A potpourri of pathogenetic pathways in endometrial carcinoma with a focus on Lynch Syndrome. ( 30798077 )
2019
34
Interpretation of Mismatch Repair Protein Immunohistochemistry in Endometrial Carcinoma Should Consider Both Lynch Syndrome Screening and Immunotherapy Susceptibility: An Illustrative Case Report. ( 30807370 )
2019
35
An Experience of Implementation and Outcomes of Universal Testing for Lynch Syndrome in the United Kingdom. ( 30815953 )
2019
36
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndrome. ( 30815977 )
2019
37
The apparent genetic anticipation in PMS2-associated Lynch syndrome families is explained by birth cohort effect. ( 30824524 )
2019
38
Diagnosis and Management of Lynch Syndrome. ( 30844969 )
2019
39
Expert Commentary on the Diagnosis and Management of Lynch Syndrome. ( 30844970 )
2019
40
Histology of colorectal adenocarcinoma with double somatic mismatch repair mutations is indistinguishable from those caused by lynch syndrome. ( 29723603 )
2018
41
Physical activity and the risk of colorectal cancer in Lynch syndrome. ( 29904935 )
2018
42
Characteristics of Lynch syndrome associated ovarian cancer. ( 29880284 )
2018
43
Which Lynch syndrome screening programs could be implemented in the "real world"? A systematic review of economic evaluations. ( 29300371 )
2018
44
A novel <i>MLH1</i> intronic variant in a young Japanese patient with Lynch syndrome. ( 29760937 )
2018
45
Is universal tumor testing for Lynch syndrome cost-effective? It depends! ( 29765139 )
2018
46
A Chinese family affected by lynch syndrome caused by MLH1 mutation. ( 29929473 )
2018
47
Lynch syndrome-associated endometrial carcinoma with MLH1 germline mutation and MLH1 promoter hypermethylation: a case report and literature review. ( 29783979 )
2018
48
Two-stain immunohistochemical screening for Lynch syndrome in colorectal cancer may fail to detect mismatch repair deficiency. ( 29967423 )
2018
49
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
50
Molecular and Pathological Features of Gastric Cancer in Lynch Syndrome and Familial Adenomatous Polyposis. ( 29882764 )
2018
Sources

Variations for Lynch Syndrome

About this section

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 15016)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPCAM NM_002354.2(EPCAM): c.556-14A> G single nucleotide variant Pathogenic rs376155665 GRCh38 Chromosome 2, 47378939: 47378939
2 EPCAM NM_002354.2(EPCAM): c.556-14A> G single nucleotide variant Pathogenic rs376155665 GRCh37 Chromosome 2, 47606078: 47606078
3 MSH2 NM_000251.2(MSH2): c.1927G> A (p.Glu643Lys) single nucleotide variant Uncertain significance rs374840361 GRCh37 Chromosome 2, 47702331: 47702331
4 MSH2 NM_000251.2(MSH2): c.1927G> A (p.Glu643Lys) single nucleotide variant Uncertain significance rs374840361 GRCh38 Chromosome 2, 47475192: 47475192
5 MSH2 NM_000251.2(MSH2): c.2203A> G (p.Ile735Val) single nucleotide variant Uncertain significance rs2229061 GRCh37 Chromosome 2, 47703703: 47703703
6 MSH2 NM_000251.2(MSH2): c.2203A> G (p.Ile735Val) single nucleotide variant Uncertain significance rs2229061 GRCh38 Chromosome 2, 47476564: 47476564
7 PMS2 NM_000535.6(PMS2): c.1144+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs373885654 GRCh37 Chromosome 7, 6029430: 6029430
8 PMS2 NM_000535.6(PMS2): c.1144+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs373885654 GRCh38 Chromosome 7, 5989799: 5989799
9 MSH2 NM_000251.2(MSH2): c.14C> T (p.Pro5Leu) single nucleotide variant Uncertain significance rs56170584 GRCh38 Chromosome 2, 47403205: 47403205
10 MSH2 NM_000251.2(MSH2): c.14C> T (p.Pro5Leu) single nucleotide variant Uncertain significance rs56170584 GRCh37 Chromosome 2, 47630344: 47630344
11 MSH2 NM_000251.2(MSH2): c.55T> C (p.Phe19Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141711342 GRCh38 Chromosome 2, 47403246: 47403246
12 MSH2 NM_000251.2(MSH2): c.55T> C (p.Phe19Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs141711342 GRCh37 Chromosome 2, 47630385: 47630385
13 MSH2 NM_000251.2(MSH2): c.62G> A (p.Arg21His) single nucleotide variant Uncertain significance rs730881760 GRCh38 Chromosome 2, 47403253: 47403253
14 MSH2 NM_000251.2(MSH2): c.62G> A (p.Arg21His) single nucleotide variant Uncertain significance rs730881760 GRCh37 Chromosome 2, 47630392: 47630392
15 MSH2 NM_000251.2(MSH2): c.112G> T (p.Asp38Tyr) single nucleotide variant Uncertain significance rs730881761 GRCh38 Chromosome 2, 47403303: 47403303
16 MSH2 NM_000251.2(MSH2): c.112G> T (p.Asp38Tyr) single nucleotide variant Uncertain significance rs730881761 GRCh37 Chromosome 2, 47630442: 47630442
17 MSH2 NM_000251.2(MSH2): c.126C> G (p.Phe42Leu) single nucleotide variant Uncertain significance rs730881766 GRCh38 Chromosome 2, 47403317: 47403317
18 MSH2 NM_000251.2(MSH2): c.126C> G (p.Phe42Leu) single nucleotide variant Uncertain significance rs730881766 GRCh37 Chromosome 2, 47630456: 47630456
19 MSH2 NM_000251.2(MSH2): c.147C> G (p.Asp49Glu) single nucleotide variant Uncertain significance rs730881771 GRCh38 Chromosome 2, 47403338: 47403338
20 MSH2 NM_000251.2(MSH2): c.147C> G (p.Asp49Glu) single nucleotide variant Uncertain significance rs730881771 GRCh37 Chromosome 2, 47630477: 47630477
21 MSH2 NM_000251.2(MSH2): c.198C> T (p.Tyr66=) single nucleotide variant Benign/Likely benign rs730881784 GRCh38 Chromosome 2, 47403389: 47403389
22 MSH2 NM_000251.2(MSH2): c.198C> T (p.Tyr66=) single nucleotide variant Benign/Likely benign rs730881784 GRCh37 Chromosome 2, 47630528: 47630528
23 MSH2 NM_000251.2(MSH2): c.368C> G (p.Ala123Gly) single nucleotide variant Uncertain significance rs730881767 GRCh38 Chromosome 2, 47410095: 47410095
24 MSH2 NM_000251.2(MSH2): c.368C> G (p.Ala123Gly) single nucleotide variant Uncertain significance rs730881767 GRCh37 Chromosome 2, 47637234: 47637234
25 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh38 Chromosome 2, 47410110: 47410110
26 MSH2 NM_000251.2(MSH2): c.383T> G (p.Leu128Arg) single nucleotide variant Uncertain significance rs730881768 GRCh37 Chromosome 2, 47637249: 47637249
27 MSH2 NM_000251.2(MSH2): c.386C> G (p.Ser129Cys) single nucleotide variant Uncertain significance rs587779972 GRCh38 Chromosome 2, 47410113: 47410113
28 MSH2 NM_000251.2(MSH2): c.386C> G (p.Ser129Cys) single nucleotide variant Uncertain significance rs587779972 GRCh37 Chromosome 2, 47637252: 47637252
29 MSH2 NM_000251.2(MSH2): c.481G> A (p.Val161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149511545 GRCh38 Chromosome 2, 47410208: 47410208
30 MSH2 NM_000251.2(MSH2): c.481G> A (p.Val161Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs149511545 GRCh37 Chromosome 2, 47637347: 47637347
31 MSH2 NM_000251.2(MSH2): c.566C> G (p.Ala189Gly) single nucleotide variant Uncertain significance rs141021599 GRCh38 Chromosome 2, 47410293: 47410293
32 MSH2 NM_000251.2(MSH2): c.566C> G (p.Ala189Gly) single nucleotide variant Uncertain significance rs141021599 GRCh37 Chromosome 2, 47637432: 47637432
33 MSH2 NM_000251.2(MSH2): c.581T> C (p.Ile194Thr) single nucleotide variant Uncertain significance rs730881778 GRCh38 Chromosome 2, 47410308: 47410308
34 MSH2 NM_000251.2(MSH2): c.581T> C (p.Ile194Thr) single nucleotide variant Uncertain significance rs730881778 GRCh37 Chromosome 2, 47637447: 47637447
35 MSH2 NM_000251.2(MSH2): c.701C> T (p.Thr234Ile) single nucleotide variant Uncertain significance rs730881773 GRCh38 Chromosome 2, 47412469: 47412469
36 MSH2 NM_000251.2(MSH2): c.701C> T (p.Thr234Ile) single nucleotide variant Uncertain significance rs730881773 GRCh37 Chromosome 2, 47639608: 47639608
37 MSH2 NM_000251.2(MSH2): c.716A> G (p.Gln239Arg) single nucleotide variant Uncertain significance rs199676483 GRCh38 Chromosome 2, 47412484: 47412484
38 MSH2 NM_000251.2(MSH2): c.716A> G (p.Gln239Arg) single nucleotide variant Uncertain significance rs199676483 GRCh37 Chromosome 2, 47639623: 47639623
39 MSH2 NM_000251.2(MSH2): c.766G> A (p.Ala256Thr) single nucleotide variant Uncertain significance rs377403073 GRCh38 Chromosome 2, 47412534: 47412534
40 MSH2 NM_000251.2(MSH2): c.766G> A (p.Ala256Thr) single nucleotide variant Uncertain significance rs377403073 GRCh37 Chromosome 2, 47639673: 47639673
41 MSH2 NM_000251.2(MSH2): c.898A> G (p.Met300Val) single nucleotide variant Uncertain significance rs730881753 GRCh38 Chromosome 2, 47414374: 47414374
42 MSH2 NM_000251.2(MSH2): c.898A> G (p.Met300Val) single nucleotide variant Uncertain significance rs730881753 GRCh37 Chromosome 2, 47641513: 47641513
43 MSH2 NM_000251.2(MSH2): c.942+17_942+29delAAAAAAAAAAAAA deletion Benign rs11309117 GRCh38 Chromosome 2, 47414435: 47414447
44 MSH2 NM_000251.2(MSH2): c.942+17_942+29delAAAAAAAAAAAAA deletion Benign rs11309117 GRCh37 Chromosome 2, 47641574: 47641586
45 MSH2 NM_000251.2(MSH2): c.1139T> C (p.Leu380Ser) single nucleotide variant Uncertain significance rs730881755 GRCh38 Chromosome 2, 47429804: 47429804
46 MSH2 NM_000251.2(MSH2): c.1139T> C (p.Leu380Ser) single nucleotide variant Uncertain significance rs730881755 GRCh37 Chromosome 2, 47656943: 47656943
47 MSH2 NM_000251.2(MSH2): c.1189C> G (p.Gln397Glu) single nucleotide variant Uncertain significance rs63750611 GRCh38 Chromosome 2, 47429854: 47429854
48 MSH2 NM_000251.2(MSH2): c.1189C> G (p.Gln397Glu) single nucleotide variant Uncertain significance rs63750611 GRCh37 Chromosome 2, 47656993: 47656993
49 MSH2 NM_000251.2(MSH2): c.1311G> T (p.Val437=) single nucleotide variant Benign/Likely benign rs730881781 GRCh38 Chromosome 2, 47445582: 47445582
50 MSH2 NM_000251.2(MSH2): c.1311G> T (p.Val437=) single nucleotide variant Benign/Likely benign rs730881781 GRCh37 Chromosome 2, 47672721: 47672721

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 32)
# Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 67
Show member pathways
 13.35 BRCA1 BRCA2 EXO1 MLH1 MLH3 POLE
2
DNA Double-Strand Break Repair 67
Show member pathways
 13.18 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
3
Regulation of TP53 Activity 67
Show member pathways
 12.91 BRCA1 EXO1 MLH1 MSH2 PMS2 TP53
4
TCR Signaling (Qiagen) 65
Show member pathways
 12.9 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
5
Endometrial cancer 38
Show member pathways
 12.81 APC BRAF BRCA2 KRAS MLH1 MSH2
6
Pathways in cancer 38
12.74 APC BRAF BRCA2 KRAS MLH1 MSH2
7
Gastric cancer 38
Show member pathways
 12.73 APC BRAF BRCA1 BRCA2 KRAS MLH1
8
Chks in Checkpoint Regulation 65
Show member pathways
 12.69 BRCA1 BRCA2 MSH2 MSH3 MSH6 POLE
9
Glioma 38
Show member pathways
 12.65 BRAF BRCA1 BRCA2 KRAS MSH6 TP53
10
DNA Damage 4
12.49 BRCA1 BRCA2 MLH1 MSH2 MSH6 MUTYH
11
MicroRNAs in cancer 38
12.43 APC BRCA1 KRAS TP53
12
Meiosis 67
Show member pathways
 12.41 BRCA1 BRCA2 MLH1 MLH3
13
mTOR signaling pathway (KEGG) 66
Show member pathways
 12.41 APC BRAF KRAS TP53
14
Human T-cell leukemia virus 1 infection 38
12.32 APC KRAS POLE TGFBR2 TP53
15
Homologous DNA Pairing and Strand Exchange 67
Show member pathways
 12.22 BRCA1 BRCA2 EXO1 POLE
16
mTOR Pathway 73
Show member pathways
 12.12 BRAF KRAS TGFBR2 TP53
17
Direct p53 effectors 1
12.08 APC MLH1 MSH2 PMS2 TP53
18
Integrated Breast Cancer Pathway 1
11.95 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
19
Glioblastoma Multiforme 65
11.94 APC BRAF KRAS TP53
20
Fanconi anemia pathway 67 38
11.84 BRCA1 BRCA2 MLH1 PMS2
21
Colorectal Cancer Metastasis 65
11.83 APC BRAF KRAS MLH1 MSH2 MSH3
22
BRCA1 Pathway 65
Show member pathways
 11.81 BRCA1 BRCA2 MSH2 MSH6 TP53
23
TGF-beta Signaling Pathways 66
11.8 BRAF KRAS TGFBR2
24
Retinoblastoma (RB) in Cancer 1
11.75 MSH6 POLE TP53
25
Platinum drug resistance 38
11.74 BRCA1 MLH1 MSH2 MSH3 MSH6 TP53
26
Bladder cancer 38 1
11.67 BRAF KRAS TP53
27
Integrated Cancer Pathway 1
11.51 BRCA1 MSH2 MSH6 TP53
28
DNA damage_Role of Brca1 and Brca2 in DNA repair 23
11.46 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
29
Doxorubicin Pathway, Pharmacokinetics 62
Show member pathways
 11.38 MLH1 MSH2 TP53
30
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 62
11.27 MLH1 MSH2 MSH6 PMS2
31
Mismatch repair 1 38 67
Show member pathways
 11.27 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
32
Extracellular vesicle-mediated signaling in recipient cells 1
11.25 APC KRAS TGFBR2
Sources

GO Terms for Lynch Syndrome

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 lateral element GO:0000800 9.46 BRCA1 BRCA2
3 MutSalpha complex GO:0032301 9.4 MSH2 MSH6
4 chiasma GO:0005712 9.37 MLH1 MLH3
5 MutSbeta complex GO:0032302 9.32 MSH2 MSH3
6 MutLalpha complex GO:0032389 9.26 MLH1 MLH3 PMS1 PMS2
7 mismatch repair complex GO:0032300 9.17 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
8 nucleus GO:0005634 10.06 APC BRAF BRCA1 BRCA2 EPM2AIP1 EXO1
9 nucleoplasm GO:0005654 10.03 APC BRCA1 BRCA2 EXO1 MLH1 MSH2

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

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

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.99 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
2 chromatin binding GO:0003682 9.98 EXO1 MLH1 MLH3 MSH2 MSH6 POLE
3 enzyme binding GO:0019899 9.95 BRCA1 MLH1 MSH2 MSH3 MSH6 PMS1
4 damaged DNA binding GO:0003684 9.85 BRCA1 MSH2 MSH3 MSH6
5 DNA-dependent ATPase activity GO:0008094 9.77 MSH2 MSH3 MSH6
6 MutLalpha complex binding GO:0032405 9.65 MSH2 MSH6 MUTYH
7 MutSalpha complex binding GO:0032407 9.63 MLH1 MUTYH PMS2
8 four-way junction DNA binding GO:0000400 9.61 MSH2 MSH6
9 LRR domain binding GO:0030275 9.6 KRAS LRRFIP2
10 dinucleotide insertion or deletion binding GO:0032139 9.58 MSH2 MSH3
11 dinucleotide repeat insertion binding GO:0032181 9.57 MSH2 MSH3
12 oxidized purine DNA binding GO:0032357 9.56 MSH2 MSH3 MSH6 MUTYH
13 single thymine insertion binding GO:0032143 9.54 MSH2 MSH3 MSH6
14 single guanine insertion binding GO:0032142 9.5 MSH2 MSH3 MSH6
15 centromeric DNA binding GO:0019237 9.49 MLH3 MSH2
16 guanine/thymine mispair binding GO:0032137 9.46 MLH1 MSH2 MSH3 MSH6
17 single-stranded DNA binding GO:0003697 9.35 BRCA2 MLH1 MSH2 MSH3 PMS2
18 double-strand/single-strand DNA junction binding GO:0000406 9.27 MSH3
19 mismatched DNA binding GO:0030983 9.17 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
20 protein binding GO:0005515 10.51 APC BRAF BRCA1 BRCA2 EPCAM EPM2AIP1
21 DNA binding GO:0003677 10.3 BRCA1 BRCA2 EXO1 MSH2 MSH3 MSH6
22 ATP binding GO:0005524 10.22 BRAF MLH1 MLH3 MSH2 MSH3 MSH6
Sources

Sources for Lynch Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 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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