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COCA1
MCID: LYN001
MIFTS: 69

Lynch Syndrome (COCA1) malady

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

Aliases & Classifications for Lynch Syndrome

About this section

Aliases & Descriptions for Lynch Syndrome:

Name: Lynch Syndrome 12 23 50 24 25 29 52 14
Hereditary Nonpolyposis Colorectal Cancer 12 50 25 69
Hnpcc 23 50 24 25
Hereditary Nonpolyposis Colorectal Neoplasms 25 69
Colorectal Cancer, Hereditary Nonpolyposis 50 29
Hereditary Non-Polyposis Colon Cancer 23 24
Familial Nonpolyposis Colon Cancer 50 25
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 69
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 42
Hereditary Non-Polyposis Colon Cancer Type 1 12
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Hereditary Nonpolyposis Colorectal Neoplasm 12
Hereditary Nonpolyposis Colon Cancer 52
Colon Cancer, Familial Nonpolyposis 50
Cancer Family Syndrome 25
Lynch Syndrome 1 50
Lynch Syndrome 2 50
Coca 1 12
Coca1 50

Characteristics:

GeneReviews:

23
lynch syndrome:
Mortality/Aging death in infancy death in early adulthood


GeneReviews:

23
Penetrance Penetrance of colon cancer associated with mutation of an mmr gene or epcam is less than 100% (see table 4). therefore, some individuals with a cancer-predisposing pathogenic variant in one of the mmr genes never develop colon cancer...

Classifications:

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


External Ids:

Disease Ontology 12 DOID:3883
MeSH 42 D003123
SNOMED-CT 64 315058005
Sources

Summaries for Lynch Syndrome

About this section
NIH Rare Diseases : 50 lynch syndrome is a genetic disorder that causes an increased risk of developing certain types of cancer such as colon and rectal cancer, as well as cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. women with lynch syndrome also have a high risk of developing uterine cancer (also called endometrial cancer) and ovarian cancer. even though the disorder was originally described as not involving noncancerous (benign) growths (polyps) in the colon, people with lynch syndrome may occasionally have colon polyps. lynch syndrome has an autosomal dominant pattern of inheritance and is caused by a mutation in the mlh1, msh2, msh6, pms2 or epcam gene. treatment of colon cancer is surgical removal of the affected part of the colon (colectomy). people with lynch syndrome should have routine colonoscopies. last updated: 4/13/2017

MalaCards based summary : Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to mismatch repair cancer syndrome and colorectal cancer, and has symptoms including constipation, fatigue and seizures. An important gene associated with Lynch Syndrome is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are Cell Cycle, Mitotic and DNA Double-Strand Break Repair. The drugs Bevacizumab and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include colon, brain and skin, and related phenotypes are Increased shRNA abundance (Z-score > 2) and cellular

Genetics Home Reference : 25 Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

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.

Wikipedia : 71 Lynch syndrome (HNPCC or hereditary nonpolyposis colorectal cancer) is an autosomal dominant genetic... more...

GeneReviews: NBK1211
Sources

Related Diseases for Lynch Syndrome

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Diseases in the Lynch Syndrome family:

Mlh1-Related Lynch Syndrome Msh2-Related Lynch Syndrome
Msh6-Related Lynch Syndrome Pms2-Related Lynch Syndrome
Epcam-Related Lynch Syndrome Mlh3-Related Lynch Syndrome
Pms1-Related Lynch Syndrome

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

(show top 50) (show all 173)
id Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 31.9 MLH1 MSH2 MSH6 MUTYH PMS1 PMS2
2 colorectal cancer 29.6 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
3 tgbfr2-related lynch syndrome 11.8
4 mlh3-related lynch syndrome 11.8
5 mlh1-related lynch syndrome 11.7
6 msh2-related lynch syndrome 11.7
7 msh6-related lynch syndrome 11.7
8 pms2-related lynch syndrome 11.7
9 epcam-related lynch syndrome 11.7
10 pms1-related lynch syndrome 11.7
11 colorectal cancer, hereditary nonpolyposis, type 1 11.7
12 ovarian cancer 11.2
13 muir-torre syndrome 11.1
14 pancreatic cancer 11.1
15 gastric cancer 11.1
16 duodenum cancer 10.8
17 familial stomach cancer 10.8
18 endometrial cancer 10.4
19 cask-related disorders 10.4 MSH6 PMS2
20 benign fibrous mesothelioma 10.4 MLH1 MSH2 MSH6
21 scarlet fever 10.4 BRAF MSH2 TP53
22 trypanosomiasis 10.4 MLH1 MSH3 MSH6
23 spondylarthropathy 10.4 BRAF CDKN2A TP53
24 large intestine adenoma 10.4 MLH1 MSH2 MSH6 PMS2
25 neurofibromatosis-noonan syndrome 10.4 MLH1 MSH2 MSH6 PMS2
26 htr2a-related altered drug metabolism 10.4 APC MLH1 MUTYH
27 churg-strauss syndrome 10.4 MLH1 MSH2 MSH6 PMS1
28 clear cell adenofibroma 10.4 CDKN2A TP53
29 hereditary sensory and autonomic neuropathy with deafness and global delay 10.4 APC MLH1 MUTYH
30 well-differentiated thymic neuroendocrine carcinoma 10.3 BRAF TP53
31 lacrimal gland adenoid cystic carcinoma 10.3 CDKN2A TP53
32 pancreatic invasive mucinous cystadenocarcinoma 10.3 BRCA2 CDKN2A PMS2
33 malignant spindle cell melanoma 10.3 MLH1 MSH2 TP53
34 skin papilloma 10.3 MLH1 MSH2 MSH6
35 seborrheic dermatitis 10.3 MLH1 MSH2 MSH6 PMS2
36 inhibited male orgasm 10.3 BRAF KRAS TP53
37 postpoliomyelitis syndrome 10.3 CDKN2A KRAS TP53
38 neuroretinitis 10.3 KRAS MLH1 MSH2 MSH6
39 endometrial squamous cell carcinoma 10.3 APC CDKN2A MLH1 TP53
40 submucosal invasive colon adenocarcinoma 10.3 APC BRCA2 TP53
41 autoimmune autonomic ganglionopathy 10.3 APC MSH2 MSH6 MUTYH
42 ossifying fibromyxoid tumor 10.3 CDKN2A KRAS TP53
43 lattice corneal dystrophy 10.3 BRAF CDKN2A MLH1 TP53
44 aicardi-goutieres syndrome 10.3 CDKN2A KRAS TP53
45 cauda equina neoplasm 10.3 MLH1 MSH2 MSH6 PMS1 PMS2
46 tamoxifen-related endometrial lesion 10.3 CDKN2A KRAS TP53
47 allergic contact dermatitis 10.3 CDKN2A KRAS MLH1 TP53
48 myxedema 10.3 CDKN2A KRAS TP53
49 prostatic adenoma 10.3 CDKN2A KRAS MLH1 TP53
50 basophilic carcinoma 10.3 EPCAM KRAS TP53

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



Diseases related to Lynch Syndrome
Sources

Symptoms & Phenotypes for Lynch Syndrome

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Human phenotypes related to Lynch Syndrome:

32 (show all 47)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 fatigue 32 HP:0012378
3 seizures 32 HP:0001250
4 abdominal pain 32 HP:0002027
5 nausea and vomiting 32 HP:0002017
6 amaurosis fugax 32 HP:0100576
7 abnormal pyramidal signs 32 HP:0007256
8 depression 32 HP:0000716
9 muscular hypotonia 32 HP:0001252
10 dysarthria 32 HP:0001260
11 gait disturbance 32 HP:0001288
12 developmental regression 32 HP:0002376
13 hallucinations 32 HP:0000738
14 increased intracranial pressure 32 HP:0002516
15 malabsorption 32 HP:0002024
16 dyskinesia 32 HP:0100660
17 visual impairment 32 HP:0000505
18 hypertonia 32 HP:0001276
19 flexion contracture 32 HP:0001371
20 irritability 32 HP:0000737
21 weight loss 32 HP:0001824
22 hemiplegia/hemiparesis 32 HP:0004374
23 attention deficit hyperactivity disorder 32 HP:0007018
24 anxiety 32 HP:0000739
25 visual field defect 32 HP:0001123
26 migraine 32 HP:0002076
27 memory impairment 32 HP:0002354
28 paresthesia 32 HP:0003401
29 colon cancer 32 HP:0003003
30 gastrointestinal hemorrhage 32 HP:0002239
31 benign neoplasm of the central nervous system 32 HP:0100835
32 pituitary adenoma 32 HP:0002893
33 dysgraphia 32 HP:0010526
34 ovarian neoplasm 32 HP:0100615
35 intestinal polyposis 32 HP:0200008
36 pancreatic adenocarcinoma 32 HP:0006725
37 neoplasm of the rectum 32 HP:0100743
38 neoplasm of the thyroid gland 32 HP:0100031
39 neuroblastoma 32 HP:0003006
40 hepatocellular carcinoma 32 HP:0001402
41 agnosia 32 HP:0010524
42 basal cell carcinoma 32 HP:0002671
43 neoplasm of the skeletal system 32 HP:0010622
44 abnormality of creatine metabolism 32 HP:0012113
45 glioblastoma 32 HP:0100843
46 urinary tract neoplasm 32 HP:0010786
47 cardiac diverticulum 32 HP:0100571

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

26
id 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-120 10.63 KRAS
4 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.63 POLE
5 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.63 EPCAM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.63 LRRFIP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-151 10.63 MSH2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.63 EPCAM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-161 10.63 PMS2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.63 KRAS POLE EPCAM
11 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.63 LRRFIP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.63 MSH2 EPCAM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.63 LRRFIP2 KRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.63 PMS2
15 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.63 KRAS
16 Increased shRNA abundance (Z-score > 2) GR00366-A-197 10.63 PMS2
17 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.63 POLE
18 Increased shRNA abundance (Z-score > 2) GR00366-A-207 10.63 PMS2 POLE
19 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.63 MSH2
20 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.63 KRAS
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 PMS2 KRAS
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 LRRFIP2 MSH2 PMS2 POLE EPCAM KRAS
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 10.28 BRAF KRAS
37 Decreased viability GR00106-A-0 10.28 KRAS
38 Decreased viability GR00221-A-1 10.28 KRAS PMS1
39 Decreased viability GR00221-A-2 10.28 BRCA1 KRAS PMS1
40 Decreased viability GR00221-A-3 10.28 BRCA1
41 Decreased viability GR00221-A-4 10.28 BRAF
42 Decreased viability GR00301-A 10.28 BRAF BRCA1 KRAS MLH3 MSH2 PMS1
43 Decreased viability GR00381-A-1 10.28 BRAF KRAS
44 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.12 BRCA1 BRCA2 CDKN2A EXO1 MLH1 POLE
45 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.12 BRCA1 BRCA2 CDKN2A EXO1 MLH1 POLE
46 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.97 MSH6 MUTYH PMS1 PMS2 TP53 BRAF
47 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.02 APC BRAF BRCA1 BRCA2 MSH2

MGI Mouse Phenotypes related to Lynch Syndrome:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.39 EXO1 KRAS MLH1 MSH2 MSH3 MSH6
2 homeostasis/metabolism MP:0005376 10.31 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
3 digestive/alimentary MP:0005381 10.27 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
4 endocrine/exocrine gland MP:0005379 10.23 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
5 hematopoietic system MP:0005397 10.21 MSH2 PMS2 POLE TP53 APC BRAF
6 mortality/aging MP:0010768 10.19 POLE RINT1 TP53 APC BRAF BRCA1
7 immune system MP:0005387 10.15 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
8 embryo MP:0005380 10.13 KRAS RINT1 TP53 APC BRAF BRCA1
9 integument MP:0010771 10.13 MSH3 MSH6 POLE RINT1 TP53 APC
10 neoplasm MP:0002006 10.09 MSH2 MSH3 MSH6 MUTYH PMS1 PMS2
11 pigmentation MP:0001186 9.43 APC BRAF BRCA1 CDKN2A KRAS TP53
12 reproductive system MP:0005389 9.4 BRCA2 CDKN2A EXO1 KRAS MLH1 MLH3
Sources

Drugs & Therapeutics for Lynch Syndrome

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

(show top 50) (show all 79)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bevacizumab Approved, Investigational Phase 3,Phase 1 216974-75-3
2
Levonorgestrel Approved, Investigational Phase 3,Phase 2 797-63-7, 17489-40-6 13109
3
Loperamide Approved Phase 3 53179-11-6 3955
4
Fluorouracil Approved Phase 3 51-21-8 3385
5
Levoleucovorin Approved Phase 3 68538-85-2
6
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599, 9887054 43805
7
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
8
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 3 58-05-9 54575, 6560146 143
10 Angiogenesis Inhibitors Phase 3,Phase 1
11 Angiogenesis Modulating Agents Phase 3,Phase 1
12 Endothelial Growth Factors Phase 3,Phase 1
13 Mitogens Phase 3,Phase 1
14 Analgesics Phase 3,Phase 2,Phase 1
15 Analgesics, Non-Narcotic Phase 3,Phase 2,Phase 1
16 Anti-Inflammatory Agents Phase 3,Phase 2,Phase 1
17 Anti-Inflammatory Agents, Non-Steroidal Phase 3,Phase 2,Phase 1
18 Antirheumatic Agents Phase 3,Phase 2,Phase 1
19 Cyclooxygenase Inhibitors Phase 3,Phase 2,Phase 1
20 Peripheral Nervous System Agents Phase 3,Phase 2,Phase 1
21 Contraceptive Agents Phase 3,Phase 2
22 Contraceptives, Oral Phase 3,Phase 2
23 Antidiarrheals Phase 3
24 Gastrointestinal Agents Phase 3
25 Antibodies Phase 3,Phase 2
26 Immunoglobulins Phase 3,Phase 2
27 Vitamins Phase 3
28 Antibodies, Monoclonal Phase 3,Phase 2
29 Antidotes Phase 3
30 Antimetabolites Phase 3
31 Antimetabolites, Antineoplastic Phase 3
32 Bone Density Conservation Agents Phase 3
33 Calcium, Dietary Phase 3
34 Hematinics Phase 3
35 Immunoglobulin G Phase 3
36 Immunosuppressive Agents Phase 3
37 Micronutrients Phase 3
38 Protective Agents Phase 3
39 Trace Elements Phase 3
40 Vitamin B Complex Phase 3
41 Acetylsalicylic acid lysinate Phase 3
42 Antipyretics Phase 3
43 Fibrinolytic Agents Phase 3
44 Platelet Aggregation Inhibitors Phase 3
45 Cola Nutraceutical Phase 3,Phase 2,Phase 1
46 Folate Nutraceutical Phase 3
47 Vitamin B9 Nutraceutical Phase 3
48
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757 53477783
49
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
50
Medroxyprogesterone acetate Approved, Investigational Phase 2 71-58-9

Interventional clinical trials:

(show top 50) (show all 79)
id Name Status NCT ID Phase
1 Use of Post Operative Loperamide in Colorectal Patients After Diverting Ileostomies Recruiting NCT02263365 Phase 3
2 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
3 Effect of Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Not yet recruiting NCT02813824 Phase 3
4 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3
5 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair or Microsatellite Instability Not yet recruiting NCT02912559 Phase 3
6 Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma Not yet recruiting NCT02502370 Phase 3
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 CHROENDOHNPCC: Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer Syndrome Completed NCT00224601 Phase 2
9 Hormone Therapy in Preventing Endometrial Cancer in Patients With a Genetic Risk For Hereditary Nonpolyposis Colon Cancer Completed NCT00033358 Phase 2
10 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
11 Molecular Targeting of 15-Lipoxygenase-1 (15-LOX-1) for Apoptosis Induction in Human Colorectal Cancers Active, not recruiting NCT00503035 Phase 2
12 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Not yet recruiting NCT03070574 Phase 2
13 Talimogene Laherparepvec and Nivolumab in Treating Patients With Refractory Lymphomas or Advanced or Refractory Non-melanoma Skin Cancers Not yet recruiting NCT02978625 Phase 2
14 Celecoxib With or Without Eflornithine in Preventing Colorectal Cancer in Patients With Familial Adenomatous Polyposis Terminated NCT00033371 Phase 2
15 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
16 Molecular Fluorescence Endoscopy in Patients With Familial Adenomatous Polyposis, Using Bevacizumab-IRDye800CW Completed NCT02113202 Phase 1
17 Celecoxib in Preventing Colorectal Cancer in Young Patients With a Genetic Predisposition for Familial Adenomatous Polyposis Completed NCT00685568 Phase 1
18 Naproxen in Preventing DNA Mismatch Repair Deficient Colorectal Cancer in Patients With Lynch Syndrome Recruiting NCT02052908 Phase 1
19 A Social Media Approach to Improve Genetic Risk Communication Phase I Active, not recruiting NCT01645904 Phase 1
20 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Unknown status NCT00929097
21 Collecting Information From Patients and Family Members With Hereditary Colorectal Cancer Syndromes or Who Are at High Risk of Developing Colorectal Cancer Unknown status NCT00675636
22 Implementation of a New Strategy to Identify HNPCC Patients Unknown status NCT00141466
23 I-Scan For Colon Polyp Detection In HNPCC Unknown status NCT01823471
24 Hypodontia and Ovarian Cancer Unknown status NCT01470235
25 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
26 Magnification Narrow Band Imaging Colonoscopy for Hereditary Non-Polyposis Colorectal Cancer Surveillance Completed NCT00313755
27 Attitudes Towards Prophylactic Colectomy in Hereditary Non-polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00582452
28 Screening for Gynecologic Cancers in Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Patients Completed NCT00508846
29 Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00004210
30 Educational CD-ROM Compared With Standard Informed Consent for Patients With Colorectal Cancer or a Family History of Colorectal Cancer Completed NCT00450424
31 Chromoendoscopy to Decrease the Risk of Colorectal Neoplasia in Lynch Syndrome Completed NCT00905710
32 Psychosocial Aspects of Genetic Testing for Hereditary Nonpolyposis Colon Cancer Completed NCT00341575
33 Uncertain Genetic Test Results for Lynch Syndrome Completed NCT01646112
34 Capsule Endoscopy to Screen for Small Bowel Neoplasia in Lynch Syndrome Completed NCT00898768 Early Phase 1
35 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
36 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
37 Telemedicine vs. Face-to-Face Cancer Genetic Counseling Completed NCT00609505
38 Narrow Band Imaging in the Prediction of Surveillance Intervals After Polypectomy in Community Practice: Ready for (a European) Prime Time Completed NCT02196402
39 Combined Colon and Endometrial Cancer Screening in Women With HNPCC Completed NCT00510796
40 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
41 Qigong For Treatment Of Fibromyalgia Completed NCT00938834
42 What Elements of the Design of a Healing Garden Are Used as Landmarks by Patients With Alzheimer's Disease to Locate? Completed NCT01692977
43 Survivorship in Lynch Syndrome Families Recruiting NCT01126840
44 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
45 High Definition White-Light Colonoscopy vs. Chromoendoscopy for Surveillance of Lynch Syndrome. Recruiting NCT02951390
46 Multi-Organ Screening Recommendations in Patients With Lynch Syndrome Recruiting NCT00582296
47 The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC) Recruiting NCT01447199
48 Ohio Colorectal Cancer Prevention Initiative Recruiting NCT01850654
49 NBI Versus Indigo Carmine During Colonoscopy in Lynch Syndrome Recruiting NCT02570516
50 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089

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:

id Genetic test Affiliating Genes
1 Lynch Syndrome 29 24
2 Hereditary Nonpolyposis Colorectal Carcinoma 29
Sources

Anatomical Context for Lynch Syndrome

About this section

MalaCards organs/tissues related to Lynch Syndrome:

39
Colon, Brain, Skin, Small Intestine, Ovary, Testes, Liver
Sources

Publications for Lynch Syndrome

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Articles related to Lynch Syndrome:

(show top 50) (show all 729)
id Title Authors Year
1
Identifying Lynch Syndrome in Women Presenting With Endometrial Carcinoma Under the Age of 50 Years. ( 28498244 )
2017
2
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. ( 28466842 )
2017
3
Development and Validation of the PREMM5 Model for Comprehensive Risk Assessment of Lynch Syndrome. ( 28489507 )
2017
4
Incomplete Segregation of MSH6 Frameshift Variants with Phenotype of Lynch Syndrome. ( 28481244 )
2017
5
Pathological features and clinical behavior of Lynch syndrome-associated ovarian cancer. ( 28065618 )
2017
6
Somatic Testing on Gynecological Cancers Improve the Identification of Lynch Syndrome. ( 28471861 )
2017
7
A rare case of choroid plexus carcinoma that led to the diagnosis of Lynch syndrome (hereditary nonpolyposis colorectal cancer). ( 28460341 )
2017
8
The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis. ( 28508326 )
2017
9
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. ( 28422960 )
2017
10
Early gastric adenocarcinoma arising within foveolar-type dysplasia in a patient with Muir-Torre variant Lynch syndrome. ( 28501935 )
2017
11
Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity. ( 28531214 )
2017
12
Risk of metachronous colorectal cancer following colectomy in Lynch syndrome: A systematic review and meta-analysis. ( 28407411 )
2017
13
Approach to Lynch Syndrome for the Gastroenterologist. ( 27990589 )
2017
14
General practitioner attitudes towards prescribing aspirin to carriers of Lynch Syndrome: findings from a national survey. ( 28434157 )
2017
15
Clinicopathologic Characteristics of Endometrial Cancer in Lynch Syndrome: A French Multicenter Study. ( 28525912 )
2017
16
AGO Austria recommendation on screening and diagnosis of Lynch syndrome (LS). ( 28510097 )
2017
17
Clinical Practice Guidelines for the Surgical Treatment of Patients With Lynch Syndrome. ( 28059909 )
2017
18
A tailored approach to BRAF and MLH1 methylation testing in a universal screening program for Lynch syndrome. ( 28059100 )
2017
19
Comparison of lifestyle, hormonal and medical factors in women with sporadic and Lynch syndrome-associated endometrial cancer: A retrospective case-case study. ( 28529751 )
2017
20
Lynch Syndrome and Endometrial Cancer. ( 28376523 )
2017
21
How does genetic risk information for Lynch syndrome translate to risk management behaviours? ( 28070225 )
2017
22
Identifying "ownership" through role descriptions to support implementing universal colorectal cancer tumor screening for Lynch syndrome. ( 28471433 )
2017
23
Spectrum of mismatch repair gene mutations and clinical presentation of Hispanic individuals with Lynch syndrome. ( 28449805 )
2017
24
Multigene Panel Testing Provides a New Perspective on Lynch Syndrome. ( 28514183 )
2017
25
Universal molecular screening does not effectively detect Lynch syndrome in clinical practice. ( 28491141 )
2017
26
The gate-keeping role of surgeons with regard to endometrial cancers in Lynch syndrome. ( 27894169 )
2017
27
Carcinoma of the lower uterine segment diagnosed with Lynch syndrome based on MSH6 germline mutation: A case report. ( 27928858 )
2016
28
Familial adrenocortical carcinoma in association with Lynch syndrome. ( 27144940 )
2016
29
Achieving behaviour change for detection of Lynch syndrome using the Theoretical Domains Framework Implementation (TDFI) approach: a study protocol. ( 26969429 )
2016
30
Cytoplasmic MSH2 immunoreactivity in a patient with Lynch syndrome with an EPCAM-MSH2 fusion. ( 27896849 )
2016
31
Hereditary non-polyposis colorectal cancer/Lynch syndrome in three dimensions. ( 26990828 )
2016
32
Prevalence of Lynch syndrome in unselected patients with endometrial or ovarian cancer. ( 27535758 )
2016
33
Prevalence of Lynch syndrome and Lynch-like syndrome among patients with colorectal cancer in a Japanese hospital-based population. ( 28031357 )
2016
34
Colorectal Cancer Risk in Patients With Lynch Syndrome andA Inflammatory Bowel Disease. ( 27521512 )
2016
35
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. ( 27601186 )
2016
36
Small bowel adenocarcinoma in Lynch syndrome: A case report. ( 27446478 )
2016
37
Renal cell cancer linked to Lynch syndrome: Increased incidence and loss of mismatch repair protein expression. ( 27168032 )
2016
38
First description of mutational analysis of MLH1, MSH2 and MSH6 in Algerian families with suspected Lynch syndrome. ( 27468915 )
2016
39
Early changes of endometrial neoplasia revealed by loss of mismatch repair gene protein expression in a patient diagnosed with Lynch syndrome. ( 27020214 )
2016
40
Evaluation of MT1XT20 Single Quasi-Monomorphic Mononucleotide Marker for Characterizing Microsatellite Instability in Persian Lynch Syndrome Patients. ( 27797228 )
2016
41
Causes of Cancer Death Among First-Degree Relatives in Japanese Families with Lynch Syndrome. ( 27069191 )
2016
42
Metachronous Uterine Endometrioid Adenocarcinoma and Peritoneal Mesothelioma in Lynch Syndrome: A Case Report. ( 27903930 )
2016
43
Cost-Effectiveness Analysis of Different Genetic Testing Strategies for Lynch Syndrome in Taiwan. ( 27482709 )
2016
44
Genetic testing for Lynch syndrome in the province of Ontario. ( 27019099 )
2016
45
Hsa-miR-137, hsa-miR-520e and hsa-miR-590-3p perform crucial roles in Lynch syndrome. ( 27602130 )
2016
46
Recent discoveries in the molecular genetics of Lynch syndrome. ( 27038793 )
2016
47
A novel deleterious c.2656G>T MSH2 germline mutation in a Pakistani family with a phenotypic overlap of hereditary breast and ovarian cancer and Lynch syndrome. ( 27413415 )
2016
48
Frequent mismatch-repair defects link prostate cancer to Lynch syndrome. ( 27013479 )
2016
49
Colorectal Choriocarcinoma in a Patient with Probable Lynch Syndrome. ( 27965933 )
2016
50
Lynch syndrome mutation spectrum in New South Wales, Australia, including 55 novel mutations. ( 27064304 )
2016
Sources

Variations for Lynch Syndrome

About this section

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 1436)
id 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 MSH2, DEL 50 CODONS deletion Pathogenic
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.1915C> T (p.His639Tyr) single nucleotide variant Pathogenic rs28929484 GRCh37 Chromosome 2, 47702319: 47702319
5 MSH2 NM_000251.2(MSH2): c.1786_1788delAAT (p.Asn596del) deletion Pathogenic rs63749831 GRCh37 Chromosome 2, 47702190: 47702192
6 MSH2 NM_000251.2(MSH2): c.1801C> T (p.Gln601Ter) single nucleotide variant Pathogenic rs63750047 GRCh37 Chromosome 2, 47702205: 47702205
7 MSH2 NM_000251.2(MSH2): c.1571G> C (p.Arg524Pro) single nucleotide variant Likely pathogenic rs63751207 GRCh37 Chromosome 2, 47693857: 47693857
8 MSH2 NM_000251.2(MSH2): c.2113delG (p.Val705Trpfs) deletion Pathogenic rs63749811 GRCh37 Chromosome 2, 47703613: 47703613
9 MSH2 NM_000251.2(MSH2): c.269_290dup22 (p.Tyr98Argfs) duplication Pathogenic rs587776529 GRCh37 Chromosome 2, 47635597: 47635618
10 MSH2 NM_000251.2(MSH2): c.1906G> C (p.Ala636Pro) single nucleotide variant Pathogenic rs63750875 GRCh37 Chromosome 2, 47702310: 47702310
11 MSH2 NM_000251.2(MSH2): c.454delA (p.Met152Cysfs) deletion Pathogenic rs63751449 GRCh37 Chromosome 2, 47637320: 47637320
12 MSH2 nsv513794 deletion Pathogenic
13 MSH2 NG_007110.2: g.4247_24291del20045 deletion Pathogenic GRCh37 Chromosome 2, 47629509: 47649553
14 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
15 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
16 PMS2 NM_000535.6(PMS2): c.1221delG (p.Thr408Leufs) deletion Pathogenic rs587776715 GRCh37 Chromosome 7, 6027175: 6027175
17 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
18 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
19 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
20 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
21 MLH1 NM_000249.3(MLH1): c.755C> A (p.Ser252Ter) single nucleotide variant Pathogenic rs63750198 GRCh37 Chromosome 3, 37056000: 37056000
22 MLH1 NM_000249.3(MLH1): c.131C> T (p.Ser44Phe) single nucleotide variant Pathogenic rs63751109 GRCh37 Chromosome 3, 37038124: 37038124
23 MLH1 NM_000249.3(MLH1): c.1852_1854delAAG (p.Lys618del) deletion Pathogenic rs63751247 GRCh37 Chromosome 3, 37089130: 37089132
24 MLH1 MLH1, 3.5-KB DEL deletion Pathogenic
25 MLH1 MLH1, IVS5, G-A, -1 single nucleotide variant Pathogenic
26 MLH1 NM_000249.3(MLH1): c.1667+1_1667+8delinsATTT indel Pathogenic rs863223312 GRCh38 Chromosome 3, 37040295: 37040302
27 MLH1 NM_000249.3(MLH1): c.986A> C (p.His329Pro) single nucleotide variant Pathogenic rs63750710 GRCh37 Chromosome 3, 37061902: 37061902
28 MLH1 MLH1, 1-BP DEL, 1784T deletion Pathogenic
29 MLH1 NM_000249.3(MLH1): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs63751615 GRCh37 Chromosome 3, 37053589: 37053589
30 MLH1 NM_000249.3(MLH1): c.199G> T (p.Gly67Trp) single nucleotide variant Pathogenic rs63750206 GRCh37 Chromosome 3, 37038192: 37038192
31 MLH1 MLH1, EX16DEL deletion Pathogenic
32 MLH1 MLH1, HYPERMETHYLATION undetermined variant Pathogenic
33 MLH1 MLH1, -42, C-T single nucleotide variant Pathogenic
34 MLH1 NM_000249.3(MLH1): c.350C> T (p.Thr117Met) single nucleotide variant Pathogenic rs63750781 GRCh37 Chromosome 3, 37045935: 37045935
35 MLH1 NM_000249.3(MLH1): c.1942C> T (p.Pro648Ser) single nucleotide variant Pathogenic rs63750899 GRCh37 Chromosome 3, 37090053: 37090053
36 MLH1 NM_000249.3(MLH1): c.806C> G (p.Ser269Ter) single nucleotide variant Pathogenic rs63750691 GRCh37 Chromosome 3, 37059012: 37059012
37 MLH1 NM_000249.3(MLH1): c.2041G> A (p.Ala681Thr) single nucleotide variant Pathogenic rs63750217 GRCh37 Chromosome 3, 37090446: 37090446
38 MLH1 MLH1, 3-BP DEL, 213AGA deletion Pathogenic
39 MLH1 MLH1, EX18DEL deletion Pathogenic
40 MLH1 MLH1, EPIGENETICALLY SILENCED undetermined variant Pathogenic
41 MLH1 MLH1, EPIGENETICALLY SILENCED INHERITED undetermined variant Pathogenic
42 MLH1 MLH1, 2-BP DEL, 593AG deletion Pathogenic
43 MLH1 NM_000249.3(MLH1): c.104_105delTGinsAC (p.Met35Asn) indel Pathogenic rs121912965 GRCh37 Chromosome 3, 37035142: 37035143
44 MLH1 NM_000249.3(MLH1): c.200G> A (p.Gly67Glu) single nucleotide variant Pathogenic rs63749939 GRCh37 Chromosome 3, 37038193: 37038193
45 MLH1 NM_000249.3(MLH1): c.793C> T (p.Arg265Cys) single nucleotide variant Pathogenic rs63751194 GRCh37 Chromosome 3, 37058999: 37058999
46 MLH1 MLH1, 11.6-KB DEL deletion Pathogenic
47 MLH1 NM_000249.3(MLH1): c.1865T> A (p.Leu622His) single nucleotide variant Pathogenic rs63750693 GRCh37 Chromosome 3, 37089143: 37089143
48 MLH1 NM_000249.3(MLH1): c.1381A> T (p.Lys461Ter) single nucleotide variant Pathogenic rs63750540 GRCh37 Chromosome 3, 37067470: 37067470
49 MLH1 NM_000249.3(MLH1): c.298C> T (p.Arg100Ter) single nucleotide variant Pathogenic rs63751221 GRCh37 Chromosome 3, 37042536: 37042536
50 MLH1 NM_000249.3(MLH1): c.454-1G> A single nucleotide variant Pathogenic rs193922370 GRCh37 Chromosome 3, 37050304: 37050304

Copy number variations for Lynch Syndrome from CNVD:

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

Expression for Lynch Syndrome

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

Pathways for Lynch Syndrome

About this section

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

(show all 30)
id Super pathways Score Top Affiliating Genes
1
Cell Cycle, Mitotic 62
Show member pathways
 13.4 BRCA1 BRCA2 CDKN2A EXO1 MLH1 MLH3
2
DNA Double-Strand Break Repair 62
Show member pathways
 13.18 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH3
3
Glioma 37
Show member pathways
 13.01 APC BRAF BRCA1 BRCA2 CDKN2A KRAS
4
Regulation of TP53 Activity 62
Show member pathways
 12.96 BRCA1 CDKN2A EXO1 MLH1 MSH2 PMS2
5
TCR Signaling (Qiagen) 60
Show member pathways
 12.89 BRCA1 BRCA2 KRAS MLH1 MSH2 MSH3
6
Chks in Checkpoint Regulation 60
Show member pathways
 12.65 BRCA1 BRCA2 MSH2 MSH3 MSH6 POLE
7
MicroRNAs in cancer 37
12.5 APC BRCA1 CDKN2A KRAS TP53
8
DNA Damage 4
12.47 BRCA1 BRCA2 CDKN2A MLH1 MSH2 MSH6
9
Pathways in cancer 37
12.45 APC BRAF BRCA2 CDKN2A KRAS MLH1
10
HTLV-I infection 37
12.42 APC CDKN2A KRAS POLE TP53
11
Endometrial cancer 37
Show member pathways
 12.28 APC BRAF KRAS MLH1 MSH2 MSH3
12
Homologous DNA Pairing and Strand Exchange 62
Show member pathways
 12.24 BRCA1 BRCA2 EXO1 POLE
13
Pancreatic cancer 37
Show member pathways
 12.12 BRAF BRCA2 CDKN2A KRAS TP53
14
p53 Pathway (RnD) 61
12.1 CDKN2A KRAS MLH1 MSH2 TP53
15
Integrated Breast Cancer Pathway 1
12.1 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
16
Direct p53 effectors 1
12.08 APC MLH1 MSH2 PMS2 TP53
17
Colorectal Cancer Metastasis 60
12.08 APC BRAF KRAS MLH1 MSH2 MSH3
18
DNA Damage Response (only ATM dependent) 1
11.98 APC CDKN2A KRAS TP53
19
Glioblastoma Multiforme 60
11.97 APC BRAF CDKN2A KRAS TP53
20
Fanconi anemia pathway 62 37
11.88 BRCA1 BRCA2 MLH1 PMS2
21
Retinoblastoma (RB) in Cancer 1
11.77 MSH6 POLE TP53
22
BRCA1 Pathway 60
Show member pathways
 11.77 BRCA1 BRCA2 MSH2 MSH6 TP53
23
MAPK Signaling: Oxidative Stress Pathway 61
11.75 BRAF KRAS TP53
24
Bladder cancer 1 37
11.75 BRAF CDKN2A KRAS TP53
25
Integrated Cancer Pathway 1
11.5 BRCA1 MSH2 MSH6 TP53
26
Doxorubicin Pathway, Pharmacokinetics 58
Show member pathways
 11.41 MLH1 MSH2 TP53
27
Platinum drug resistance 37
11.36 BRCA1 CDKN2A MLH1 MSH2 MSH3 MSH6
28
Mismatch repair 62 1 37
Show member pathways
 11.27 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
29
Thyroid cancer 37
11.24 BRAF KRAS TP53
30
Platinum Pathway, Pharmacokinetics/Pharmacodynamics 58
11.24 MLH1 MSH2 MSH6 PMS2
Sources

GO Terms for Lynch Syndrome

About this section

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

id Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 APC BRCA1 BRCA2 CDKN2A EXO1 MLH1
2 condensed nuclear chromosome GO:0000794 9.58 BRCA1 MLH1 MLH3
3 lateral element GO:0000800 9.46 BRCA1 BRCA2
4 MutSbeta complex GO:0032302 9.37 MSH2 MSH3
5 MutSalpha complex GO:0032301 9.32 MSH2 MSH6
6 chiasma GO:0005712 9.26 MLH1 MLH3
7 MutLalpha complex GO:0032389 9.13 MLH1 PMS1 PMS2
8 mismatch repair complex GO:0032300 8.8 MLH3 MSH2 PMS2
9 nucleus GO:0005634 10.31 APC BRAF BRCA1 BRCA2 CDKN2A EXO1

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 cell cycle arrest GO:0007050 9.88 APC CDKN2A MSH2 TP53
2 DNA synthesis involved in DNA repair GO:0000731 9.8 BRCA1 BRCA2 EXO1 POLE
3 Ras protein signal transduction GO:0007265 9.79 CDKN2A KRAS TP53
4 double-strand break repair GO:0006302 9.79 BRCA1 BRCA2 MSH2
5 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.74 BRCA2 MSH2 TP53
6 strand displacement GO:0000732 9.73 BRCA1 BRCA2 EXO1
7 DNA repair GO:0006281 9.73 BRCA1 BRCA2 EXO1 MLH1 MLH3 MSH2
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 BRCA1 BRCA2 MLH1 MSH2 MSH6
9 response to X-ray GO:0010165 9.71 BRCA2 MSH2 TP53
10 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.7 BRCA1 BRCA2 TP53
11 determination of adult lifespan GO:0008340 9.69 MSH2 MSH6 TP53
12 isotype switching GO:0045190 9.67 EXO1 MLH1 MSH2 MSH6
13 negative regulation of DNA recombination GO:0045910 9.65 MSH2 MSH3 MSH6
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 EXO1 MLH1 MSH2 MSH6 PMS2
15 postreplication repair GO:0006301 9.63 BRCA1 MSH2
16 replicative senescence GO:0090399 9.63 CDKN2A TP53
17 positive regulation of helicase activity GO:0051096 9.63 MSH2 MSH3 MSH6
18 positive regulation of isotype switching to IgG isotypes GO:0048304 9.62 MLH1 MSH2
19 positive regulation of cellular senescence GO:2000774 9.61 CDKN2A KRAS
20 maintenance of DNA repeat elements GO:0043570 9.61 MSH2 MSH3 MSH6
21 positive regulation of isotype switching to IgA isotypes GO:0048298 9.59 MLH1 MSH2
22 chordate embryonic development GO:0043009 9.58 BRCA1 BRCA2
23 somatic recombination of immunoglobulin gene segments GO:0016447 9.58 MLH1 MSH2 MSH6
24 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.55 MLH1 MSH2
25 mismatch repair GO:0006298 9.28 EXO1 MLH1 MLH3 MSH2 MSH3 MSH6
26 cell cycle GO:0007049 10.08 BRCA1 BRCA2 CDKN2A MLH1 RINT1 TP53
27 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 18)
id Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.99 EXO1 MLH1 MLH3 MSH6 POLE TP53
2 ATPase activity GO:0016887 9.85 MLH1 MLH3 MSH2 MSH6 PMS1 PMS2
3 damaged DNA binding GO:0003684 9.8 BRCA1 MSH2 MSH6 TP53
4 oxidized purine DNA binding GO:0032357 9.63 MSH2 MSH3 MSH6
5 centromeric DNA binding GO:0019237 9.58 MLH3 MSH2
6 MutLalpha complex binding GO:0032405 9.58 MSH2 MSH6 MUTYH
7 LRR domain binding GO:0030275 9.57 KRAS LRRFIP2
8 dinucleotide insertion or deletion binding GO:0032139 9.56 MSH2 MSH3
9 single thymine insertion binding GO:0032143 9.54 MSH2 MSH6
10 dinucleotide repeat insertion binding GO:0032181 9.52 MSH2 MSH3
11 MutSalpha complex binding GO:0032407 9.5 MLH1 MUTYH PMS2
12 single-stranded DNA binding GO:0003697 9.5 BRCA2 MLH1 MLH3 MSH2 MSH3 PMS1
13 guanine/thymine mispair binding GO:0032137 9.46 MLH1 MSH2 MSH3 MSH6
14 single guanine insertion binding GO:0032142 9.43 MSH2 MSH3 MSH6
15 mismatched DNA binding GO:0030983 9.17 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
16 protein binding GO:0005515 10.45 APC BRAF BRCA1 BRCA2 CDKN2A EPCAM
17 DNA binding GO:0003677 10.21 BRCA1 BRCA2 CDKN2A EXO1 MSH2 MSH3
18 ATP binding GO:0005524 10.2 BRAF MLH1 MLH3 MSH2 MSH3 MSH6
Sources

Sources for Lynch Syndrome

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