MCID: LYN001
MIFTS: 66

Lynch Syndrome

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lynch Syndrome

MalaCards integrated aliases for Lynch Syndrome:

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

Characteristics:

HPO:

33
lynch syndrome:
Clinical modifier death in infancy death in early adulthood


GeneReviews:

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

Classifications:



Summaries for Lynch Syndrome

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

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

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

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

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

GeneReviews: NBK1211

Related Diseases for Lynch Syndrome

Diseases in the Lynch Syndrome family:

Lynch Syndrome I

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

(show top 50) (show all 210)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 33.7 BRCA1 BRCA2 EPCAM MLH1 MSH2 MSH6
2 mismatch repair cancer syndrome 32.9 APC MLH1 MSH2 MSH6 PMS1 PMS2
3 colorectal cancer, hereditary nonpolyposis, type 4 32.8 MLH1 MSH2 PMS2
4 colorectal cancer, hereditary nonpolyposis, type 7 32.8 MLH1 MLH3 MSH2
5 colorectal cancer, hereditary nonpolyposis, type 5 32.8 MLH1 MSH2 MSH6
6 muir-torre syndrome 32.7 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
7 gastric cancer 32.1 APC KRAS MLH1 MSH2 MUTYH TGFBR2
8 ovarian cancer 31.4 BRAF BRCA1 BRCA2 EPCAM KRAS MLH1
9 appendix carcinoid tumor 30.9 MLH1 MSH2 MSH6 PMS2
10 adenocarcinoma 30.9 APC BRAF EPCAM KRAS MLH1 TGFBR2
11 attenuated familial adenomatous polyposis 30.7 APC MSH2 MSH6 MUTYH
12 familial colorectal cancer 30.7 APC MLH1 MSH2 MUTYH POLE TGFBR2
13 colorectal adenocarcinoma 30.5 BRAF KRAS MLH1 MSH2 MSH6 TP53
14 mutyh-associated polyposis 30.5 APC KRAS MUTYH TP53
15 hyperplastic polyposis syndrome 30.5 APC BRAF KRAS MUTYH TP53
16 testicular germ cell tumor 30.4 BRAF MSH2 TP53
17 familial adenomatous polyposis 30.4 APC KRAS MLH1 MSH2 MSH3 MSH6
18 transitional cell carcinoma 30.4 BRAF MSH2 TP53
19 adenoma 30.2 APC BRAF KRAS MLH1 MSH2 MUTYH
20 colon adenocarcinoma 30.1 APC KRAS MLH1 MSH6
21 rhabdomyosarcoma 30.1 BRCA1 MSH2 MSH6 PMS2 TP53
22 ovarian cancer 1 30.1 BRCA1 BRCA2 KRAS TP53
23 gastric adenocarcinoma 30.0 APC BRAF EPCAM KRAS MLH1 TGFBR2
24 lung cancer susceptibility 3 29.9 APC BRAF KRAS TGFBR2 TP53
25 colorectal adenoma 29.9 APC KRAS MLH1 MSH2 MUTYH TP53
26 li-fraumeni syndrome 29.9 BRCA1 BRCA2 MLH1 TP53
27 endometrial cancer 29.8 BRAF BRCA1 BRCA2 KRAS MLH1 MLH3
28 hereditary breast ovarian cancer syndrome 29.8 BRCA1 BRCA2 MLH1 MSH6 TP53
29 colorectal cancer 29.6 APC BRAF BRCA1 BRCA2 EPCAM KRAS
30 breast cancer 29.5 APC BRAF BRCA1 BRCA2 EPCAM KRAS
31 large intestine cancer 28.7 APC BRAF EPCAM KRAS MLH1 MLH3
32 pancreatic cancer 11.4
33 colorectal cancer, hereditary nonpolyposis, type 8 11.4
34 colorectal cancer, hereditary nonpolyposis, type 2 11.0
35 colorectal cancer, hereditary nonpolyposis, type 6 11.0
36 familial stomach cancer 11.0
37 spindle cell intraocular melanoma 10.5 MLH1 PMS2
38 nevus of ota 10.5 BRAF TP53
39 skin benign neoplasm 10.5 MLH1 MSH2 MSH6
40 keratoacanthoma 10.5 MLH1 MSH2 TP53
41 gastric leiomyoma 10.5 MLH1 MSH3 MSH6
42 adenosquamous colon carcinoma 10.5 MLH1 MSH2 MSH6 PMS2
43 sebaceous adenoma 10.5 MLH1 MSH2 MSH6 PMS2
44 lower lip cancer 10.5 MLH1 MSH2
45 anal squamous cell carcinoma 10.4 APC MLH1 TP53
46 lip cancer 10.4 MSH2 TP53
47 actinic cheilitis 10.4 MSH2 TP53
48 polyposis syndrome, hereditary mixed, 1 10.4 APC MLH1 MUTYH
49 sebaceous adenocarcinoma 10.4 MLH1 MSH2 MSH6 PMS1 PMS2
50 colorectal cancer 5 10.4 MLH1 MSH6

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



Diseases related to Lynch Syndrome

Symptoms & Phenotypes for Lynch Syndrome

Human phenotypes related to Lynch Syndrome:

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

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

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

MGI Mouse Phenotypes related to Lynch Syndrome:

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

Drugs & Therapeutics for Lynch Syndrome

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

(show top 50) (show all 92)
# Name Status Phase Clinical Trials Cas Number PubChem Id
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 Anesthetics Phase 4
4 Central Nervous System Depressants Phase 4
5 Anti-Arrhythmia Agents Phase 4
6 Anesthetics, Local Phase 4
7 Sodium Channel Blockers 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 2 797-63-7, 17489-40-6 13109
11
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
12
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 6857599 5310940 9887054
13
Fluorouracil Approved Phase 3 51-21-8 3385
14
leucovorin Approved Phase 3 58-05-9 143 6006
15
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
16
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
17
Loperamide Approved Phase 3 53179-11-6 3955
18
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
19
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
20 Cola Phase 3,Phase 2,Not Applicable
21 Antirheumatic Agents Phase 3,Phase 2,Phase 1
22 Analgesics Phase 3,Phase 2,Phase 1
23 Analgesics, Non-Narcotic 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 Endothelial Growth Factors Phase 3,Phase 1
29 Mitogens Phase 3,Phase 1
30 Angiogenesis Inhibitors Phase 3,Phase 1
31 Antineoplastic Agents, Immunological Phase 3,Phase 2,Phase 1
32 Angiogenesis Modulating Agents Phase 3,Phase 1
33 Contraceptives, Oral Phase 3,Phase 2
34 Contraceptive Agents Phase 3,Phase 2
35 Gastrointestinal Agents Phase 3
36 Antipyretics Phase 3
37 Platelet Aggregation Inhibitors Phase 3
38 Acetylsalicylic acid lysinate Phase 3
39 Fibrinolytic Agents Phase 3
40 Vitamins Phase 3
41 Antibodies, Monoclonal Phase 3
42 Vitamin B9 Phase 3
43 Folate Phase 3
44 Antimetabolites Phase 3
45 Antibodies Phase 3
46 Protective Agents Phase 3
47 Antimetabolites, Antineoplastic Phase 3
48 Micronutrients Phase 3
49 Immunologic Factors Phase 3,Phase 1,Phase 2
50 Bone Density Conservation Agents Phase 3

Interventional clinical trials:

(show top 50) (show all 90)
# Name Status NCT ID Phase Drugs
1 Pain Outcomes Following Intralesional Corticosteroid Injections Recruiting NCT03630198 Phase 4 Corticosteroid with lidocaine;Corticosteroid with normal saline
2 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Recruiting NCT02813824 Phase 3 Acetylsalicylic acid lysinate 300 mg;Placebo (for Aspirin 300);Acetylsalicylic acid lysinate 100 mg;Placebo 100 (for Aspirin 100)
3 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair Recruiting NCT02912559 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
4 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
5 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3 Aspirin
6 Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma Not yet recruiting NCT02502370 Phase 3 observation alone;LV5FU2;FOLFOX
7 Intrauterine Levonorgestrel and Observation or Observation Alone in Preventing Atypical Endometrial Hyperplasia and Endometrial Cancer in Women With Hereditary Non-Polyposis Colorectal Cancer or Lynch Syndrome Terminated NCT00566644 Phase 3
8 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
9 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
10 Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
11 Nivolumab in Preventing Colon Adenomas in Participants With Lynch Syndrome and a History of Partial Colectomy Recruiting NCT03631641 Phase 2
12 Study of TVEC in Patients With Cutaneous Squamous Cell Cancer Recruiting NCT03714828 Phase 2 Injection of TVEC into target lesions - week 1-2;Injection of TVEC into target lesions 3wks after 1st injection;Injection of TVEC into target lesions 2wks after 2nd injection;Injection of TVEC into target lesions 2wks after 3rd injection
13 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Recruiting NCT02978625 Phase 2
14 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
15 Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE) Not yet recruiting NCT03831698 Phase 2 Omega-3 fatty acid ethyl esters (2 gram)
16 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
17 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
18 Phase I-II Multiple-Dose Safety and Efficacy Study of a Selective Inhibitor of Cyclooxygenase - 2 (SC-58635) in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients and Carriers Completed NCT00001693 Phase 1 Celecoxib (SC-58635)
19 Pembrolizumab in Treating Younger Patients With Recurrent, Progressive, or Refractory High-Grade Gliomas, Diffuse Intrinsic Pontine Gliomas, Hypermutated Brain Tumors, Ependymoma or Medulloblastoma Recruiting NCT02359565 Phase 1
20 Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome Active, not recruiting NCT02052908 Phase 1 Naproxen
21 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
22 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
23 Implementation of a New Strategy to Identify HNPCC Patients Unknown status NCT00141466 Not Applicable
24 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
25 Hypodontia and Ovarian Cancer Unknown status NCT01470235
26 Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Patients Meeting Chinese Lynch Syndrome Criteria Completed NCT03046849
27 Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Completed NCT03047226
28 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841 Not Applicable
29 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710 Not Applicable
30 High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. Completed NCT02951390 Not Applicable
31 Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome Completed NCT00898768 Early Phase 1
32 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
33 Ohio Colorectal Cancer Prevention Initiative Completed NCT01850654 Not Applicable
34 Uncertain Genetic Test Results for Lynch Syndrome Completed NCT01646112
35 NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome Completed NCT02570516 Not Applicable
36 I-Scan For Colon Polyp Detection In HNPCC Completed NCT01823471 Not Applicable
37 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505 Not Applicable
38 Identifying Patients With Hereditary and Familial Colorectal Cancer by Using an Online Risk Tool Completed NCT02645084 Not Applicable
39 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210 Not Applicable
40 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953 Not Applicable
41 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
42 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Completed NCT02703545
43 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755 Not Applicable
44 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
45 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
46 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
47 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424 Not Applicable
48 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Completed NCT00675636
49 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
50 Genetic Risk: Whether, When, and How to Tell Adolescents Completed NCT03421327

Search NIH Clinical Center for Lynch Syndrome

Cochrane evidence based reviews: colorectal neoplasms, hereditary nonpolyposis

Genetic Tests for Lynch Syndrome

Genetic tests related to Lynch Syndrome:

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

Anatomical Context for Lynch Syndrome

MalaCards organs/tissues related to Lynch Syndrome:

42
Colon, Testes, Skin, Brain, Small Intestine, Ovary, Prostate

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

(show top 50) (show all 1833)
# Title Authors Year
1
Response to "histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by lynch syndrome"-reply. ( 31075301 )
2019
2
Response to "histology of colorectal adenocarcinoma with double somatic mismatch-repair mutations is indistinguishable from those caused by lynch syndrome". ( 31077684 )
2019
3
Lung Adenocarcinoma with Lynch Syndrome and the Response to Nivolumab. ( 31092773 )
2019
4
A case of ovarian endometrioid adenocarcinoma with yolk sac differentiation and Lynch syndrome. ( 30723761 )
2019
5
Adrenal Cortical Carcinoma Associated With Lynch Syndrome: A Case Report and Review of Literature. ( 30963136 )
2019
6
The impact of health anxiety on perceptions of personal and children's health in parents with Lynch syndrome. ( 30638287 )
2019
7
Response to Roberts et al. 2018: cohort ascertainment and methods of analysis impact the association between cancer and genetic predisposition - the tale of breast cancer risk and Lynch syndrome genes MSH6/PMS2. ( 30816297 )
2019
8
Health and lifestyle behaviors in colorectal cancer survivors with and without Lynch syndrome. ( 31016603 )
2019
9
Total abdominal colectomy is cost-effective in treating colorectal cancer in patients with genetically diagnosed Lynch Syndrome. ( 30904142 )
2019
10
Oral tongue cancer in a patient with hereditary nonpolyposis colorectal cancer: A case report and review of the literature. ( 30885722 )
2019
11
Adherence to guidelines for the referral of patients with colorectal cancer and abnormal tumour tissue testing for assessment of Lynch syndrome. ( 30856687 )
2019
12
Clinical characteristics of patients with colorectal cancer with double somatic mismatch repair mutations compared with Lynch syndrome. ( 30877237 )
2019
13
Lynch-like syndrome is as frequent as Lynch syndrome in early-onset nonfamilial nonpolyposis colorectal cancer. ( 30693488 )
2019
14
The Impact of Universal Immunohistochemistry on Lynch Syndrome Diagnosis in an Australian Colorectal Cancer Cohort. ( 30667141 )
2019
15
Immunoprofiles of colorectal cancer from Lynch syndrome. ( 30546958 )
2019
16
Impact of gene-specific germline pathogenic variants on presentation of endometrial cancer in Lynch syndrome. ( 30772826 )
2019
17
A Micro-Costing Study of Screening for Lynch Syndrome-Associated Pathogenic Variants in an Unselected Endometrial Cancer Population: Cheap as NGS Chips? ( 30863719 )
2019
18
Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes. ( 29651783 )
2019
19
Gastric cancer in Lynch syndrome is associated with underlying immune gastritis. ( 31055502 )
2019
20
Screening for Lynch Syndrome by Immunohistochemistry of Mismatch Repair Proteins: Significance of Indeterminate Result and Correlation With Mutational Studies. ( 30917047 )
2019
21
The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome. ( 30918358 )
2019
22
Single-center study of Lynch syndrome screening in colorectal polyps. ( 30918532 )
2019
23
The nonsense mutation MSH2 c.2152C>T shows a founder effect in Portuguese Lynch syndrome families. ( 30968502 )
2019
24
Men's experiences of recontact about a potential increased risk of prostate cancer due to Lynch Syndrome: "Just another straw on the stack". ( 30969465 )
2019
25
A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome. ( 30974197 )
2019
26
Methylation Tolerance-based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome. ( 30998989 )
2019
27
Targeted Cancer Next Generation Sequencing as a Primary Screening Tool for Microsatellite Instability and Lynch Syndrome in Upper Gastrointestinal Tract Cancers. ( 31028081 )
2019
28
Effect of chromoendoscopy in the proximal colon on colorectal neoplasia detection in Lynch syndrome: a multicenter randomized controlled trial. ( 31028782 )
2019
29
Malignant mesothelioma in Lynch syndrome: A report of two cases and a review of the literature. ( 31033031 )
2019
30
Lynch syndrome and urologic malignancies: a contemporary review. ( 31045926 )
2019
31
MLH1 germline mutation associated with Lynch syndrome in a family followed for more than 45 years. ( 31046708 )
2019
32
PMS2 germline mutation c.943C>T (p.Arg315*)-induced Lynch syndrome-associated ovarian cancer. ( 31056861 )
2019
33
CD31-positive microvessel density within adenomas of Lynch Syndrome patients is similar compared to adenomas of non-Lynch patients. ( 31073537 )
2019
34
Two versus Four Immunostains for Lynch Syndrome Screening in Endometrial Carcinoma. ( 31077605 )
2019
35
The proportion of endometrial cancers associated with Lynch syndrome: a systematic review of the literature and meta-analysis. ( 31086306 )
2019
36
Universal tumor screening for Lynch syndrome: Perceptions of Canadian pathologists and genetic counselors of barriers and facilitators. ( 31102338 )
2019
37
Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome. ( 31104363 )
2019
38
Endoscopic full thickness resection for early colon cancer in Lynch syndrome. ( 31111311 )
2019
39
Universal screening of Lynch syndrome is ready for implementation. ( 29740168 )
2019
40
Is universal tumor testing for Lynch syndrome cost-effective? It depends! ( 29765139 )
2019
41
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice. ( 29846880 )
2019
42
Modified capture-recapture estimates of the number of families with Lynch syndrome in Central Ohio. ( 30019097 )
2019
43
Performance of tumor testing for Lynch syndrome identification in patients with colorectal cancer: A retrospective single-center study. ( 30117378 )
2019
44
Information exchange between patients with Lynch syndrome and their genetic and non-genetic health professionals: whose responsibility? ( 30209752 )
2019
45
Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome. ( 30251116 )
2019
46
Learning by Example: An International Perspective on Reflex-Testing for Lynch Syndrome. ( 30276639 )
2019
47
Microsatellite Instability Is Associated With the Presence of Lynch Syndrome Pan-Cancer. ( 30376427 )
2019
48
Clinicopathological features of breast cancer in Japanese female patients with Lynch syndrome. ( 30446972 )
2019
49
Duodenal tumor risk in Lynch syndrome. ( 30448460 )
2019
50
Pseudomyxoma Peritonei After a Total Pancreatectomy for Intraductal Papillary Mucinous Neoplasm With Colloid Carcinoma in Lynch Syndrome. ( 30531244 )
2019

Variations for Lynch Syndrome

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 15020)
# Gene Variation Type Significance SNP ID Assembly Location
1 MSH2 NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) single nucleotide variant Pathogenic rs28929483 GRCh37 Chromosome 2, 47702269: 47702269
2 MSH2 NM_000251.2(MSH2): c.1865C> T (p.Pro622Leu) single nucleotide variant Pathogenic rs28929483 GRCh38 Chromosome 2, 47475130: 47475130
3 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 GRCh37 Chromosome 2, 47657020: 47657020
4 MSH2 NM_000251.2(MSH2): c.1216C> T (p.Arg406Ter) single nucleotide variant Pathogenic rs63751108 GRCh38 Chromosome 2, 47429881: 47429881
5 MSH2 NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh37 Chromosome 2, 47702319: 47702319
6 MSH2 NM_000251.2(MSH2): c.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh38 Chromosome 2, 47475180: 47475180
7 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh37 Chromosome 2, 47702190: 47702192
8 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh38 Chromosome 2, 47475051: 47475053
9 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
10 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh38 Chromosome 2, 47475066: 47475066
11 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh37 Chromosome 2, 47693857: 47693857
12 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh38 Chromosome 2, 47466718: 47466718
13 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh37 Chromosome 2, 47703613: 47703613
14 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh38 Chromosome 2, 47476474: 47476474
15 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs1553350126 GRCh37 Chromosome 2, 47635597: 47635618
16 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs1553350126 GRCh38 Chromosome 2, 47408458: 47408479
17 MSH2 NM_000251.2(MSH2): c.965G> A (p.Gly322Asp) single nucleotide variant Benign rs4987188 GRCh37 Chromosome 2, 47643457: 47643457
18 MSH2 NM_000251.2(MSH2): c.965G> A (p.Gly322Asp) single nucleotide variant Benign rs4987188 GRCh38 Chromosome 2, 47416318: 47416318
19 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh37 Chromosome 2, 47702310: 47702310
20 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh38 Chromosome 2, 47475171: 47475171
21 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320
22 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh38 Chromosome 2, 47410181: 47410181
23 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh37 Chromosome 14, 75514138: 75514138
24 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh38 Chromosome 14, 75047435: 75047435
25 MSH6 NM_000179.2(MSH6): c.2633T> C (p.Val878Ala) single nucleotide variant Benign rs2020912 GRCh37 Chromosome 2, 48027755: 48027755
26 MSH6 NM_000179.2(MSH6): c.2633T> C (p.Val878Ala) single nucleotide variant Benign rs2020912 GRCh38 Chromosome 2, 47800616: 47800616
27 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh38 Chromosome 2, 47798634: 47798634
28 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
29 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
30 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh38 Chromosome 7, 6002590: 6002590
31 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
32 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh38 Chromosome 7, 5987544: 5987544
33 PMS2 NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
34 PMS2 NM_000535.5(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh38 Chromosome 7, 5977629: 5977629
35 PMS2 NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
36 PMS2 NM_000535.5(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh37 Chromosome 7, 6029554: 6029554
37 PMS2 NM_000535.7(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
38 PMS2 NM_000535.7(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh38 Chromosome 7, 5986883: 5986883
39 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
40 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh38 Chromosome 7, 6005918: 6005918
41 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
42 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh38 Chromosome 3, 36996633: 36996633
43 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
44 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh38 Chromosome 3, 37047639: 37047641
45 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
46 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh38 Chromosome 3, 37020411: 37020411
47 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
48 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh38 Chromosome 3, 37012098: 37012098
49 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
50 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh38 Chromosome 3, 36996701: 36996701

Copy number variations for Lynch Syndrome from CNVD:

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

Expression for Lynch Syndrome

Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for Lynch Syndrome

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

(show all 32)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.35 BRCA1 BRCA2 EXO1 MLH1 MLH3 POLE
2
Show member pathways
13.18 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
3
Show member pathways
12.91 BRCA1 EXO1 MLH1 MSH2 PMS2 TP53
4
Show member pathways
12.9 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
5
Show member pathways
12.81 APC BRAF BRCA2 KRAS MLH1 MSH2
6 12.74 APC BRAF BRCA2 KRAS MLH1 MSH2
7
Show member pathways
12.73 APC BRAF BRCA1 BRCA2 KRAS MLH1
8
Show member pathways
12.69 BRCA1 BRCA2 MSH2 MSH3 MSH6 POLE
9
Show member pathways
12.65 BRAF BRCA1 BRCA2 KRAS MSH6 TP53
10 12.49 BRCA1 BRCA2 MLH1 MSH2 MSH6 MUTYH
11 12.43 APC BRCA1 KRAS TP53
12
Show member pathways
12.41 BRCA1 BRCA2 MLH1 MLH3
13
Show member pathways
12.41 APC BRAF KRAS TP53
14 12.32 APC KRAS POLE TGFBR2 TP53
15
Show member pathways
12.22 BRCA1 BRCA2 EXO1 POLE
16
Show member pathways
12.12 BRAF KRAS TGFBR2 TP53
17 12.08 APC MLH1 MSH2 PMS2 TP53
18 11.95 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
19 11.94 APC BRAF KRAS TP53
20 11.84 BRCA1 BRCA2 MLH1 PMS2
21 11.83 APC BRAF KRAS MLH1 MSH2 MSH3
22
Show member pathways
11.81 BRCA1 BRCA2 MSH2 MSH6 TP53
23 11.8 BRAF KRAS TGFBR2
24 11.75 MSH6 POLE TP53
25 11.74 BRCA1 MLH1 MSH2 MSH3 MSH6 TP53
26 11.67 BRAF KRAS TP53
27 11.51 BRCA1 MSH2 MSH6 TP53
28 11.46 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
29
Show member pathways
11.38 MLH1 MSH2 TP53
30 11.27 MLH1 MSH2 MSH6 PMS2
31
Show member pathways
11.27 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
32 11.25 APC KRAS TGFBR2

GO Terms for Lynch Syndrome

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

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

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

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

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

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

Sources for Lynch Syndrome

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
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