COCA1
MCID: LYN001
MIFTS: 77

Lynch Syndrome (COCA1)

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 75 24 53 25 59 29 55 6 15
Hereditary Nonpolyposis Colorectal Cancer 12 53 25 59 72
Hereditary Nonpolyposis Colorectal Carcinoma 29 6 17 72
Hnpcc 24 53 25 59
Hereditary Nonpolyposis Colon Cancer 59 55 6
Familial Nonpolyposis Colon Cancer 53 25 59
Lynch Syndrome Ii 29 55 6
Hereditary Nonpolyposis Colorectal Neoplasms 25 72
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 72
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 44
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Cancer, Colorectal, Nonpolyposis, Hereditary 40
Hereditary Nonpolyposis Colorectal Neoplasm 12
Colorectal Cancer, Hereditary Nonpolyposis 53
Familial Nonpolyposis Colorectal Cancer 59
Hereditary Non-Polyposis Colon Cancer 24
Colon Cancer, Familial Nonpolyposis 53
Cancer Family Syndrome 25
Lynch Syndrome 1 53
Lynch Syndrome 2 53
Coca 1 12
Coca1 53

Characteristics:

Orphanet epidemiological data:

59
lynch syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

32
lynch syndrome:
Clinical modifier death in infancy death in early adulthood


GeneReviews:

24
Penetrance Penetrance of crcs and extracolonic cancers associated with pathogenic variants in an mmr gene or epcam is less than 100% (see table 3). therefore, some individuals with a cancer-predisposing pathogenic variant in an mmr gene or epcam may never develop cancer.

Classifications:



External Ids:

Disease Ontology 12 DOID:3883
MeSH 44 D003123
MESH via Orphanet 45 D003123
ICD10 via Orphanet 34 D48.9
UMLS via Orphanet 73 C0009405 C1112155 C1333990
UMLS 72 C0009405 C1333990 C2936783 more

Summaries for Lynch Syndrome

NIH Rare Diseases : 53 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.

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 DNA Double-Strand Break Repair and Regulation of TP53 Activity. The drugs Atezolizumab and Levoleucovorin 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 : 25 Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.

Wikipedia : 75 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 353)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 34.6 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
2 mismatch repair cancer syndrome 34.0 PMS2 PMS1 MSH6 MSH2 MLH1 APC
3 colorectal cancer, hereditary nonpolyposis, type 7 33.8 MSH2 MLH3 MLH1
4 colorectal cancer, hereditary nonpolyposis, type 4 33.8 PMS2 MSH2 MLH1
5 colorectal cancer, hereditary nonpolyposis, type 5 33.7 MSH6 MSH2 MLH1
6 muir-torre syndrome 33.6 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
7 gastric cancer 32.8 TP53 TGFBR2 PIK3CA MUTYH MSH2 MLH1
8 ovarian cancer 32.3 TP53 PMS1 PIK3CA MSH6 MSH2 MLH1
9 pancreatic cancer 32.3 TP53 TGFBR2 PIK3CA KRAS BRCA2 BRCA1
10 familial colorectal cancer 31.8 TP53 TGFBR2 POLE MUTYH MSH2 MLH1
11 colorectal adenoma 31.7 TP53 MUTYH MSH2 MLH1 KRAS APC
12 adenoma 31.7 TP53 TGFBR2 MUTYH MSH2 MLH1 KRAS
13 appendix carcinoid tumor 31.7 PMS2 MSH6 MSH2 MLH1
14 skin benign neoplasm 31.7 MSH6 MSH2 MLH1
15 small intestine cancer 31.7 PMS2 MSH6 MSH2 MLH1 KRAS
16 colorectal adenocarcinoma 31.6 TP53 MSH6 MSH2 MLH1 KRAS BRAF
17 adenocarcinoma 31.5 TP53 TGFBR2 PIK3CA MLH1 KRAS EPCAM
18 familial adenomatous polyposis 31.4 TP53 MUTYH MSH6 MSH3 MSH2 MLH1
19 colon adenocarcinoma 31.4 MSH6 MLH1 KRAS APC
20 sebaceous adenoma 31.4 PMS2 MSH6 MSH2 MLH1
21 mutyh-associated polyposis 31.4 TP53 MUTYH KRAS APC
22 keratoacanthoma 31.4 TP53 MSH2 MLH1
23 sebaceous adenocarcinoma 31.3 PMS2 PMS1 MSH6 MSH2 MLH1
24 colorectal cancer 5 31.2 MSH6 MLH1
25 spindle cell intraocular melanoma 31.2 PMS2 MLH1
26 carcinosarcoma 31.2 TP53 PIK3CA KRAS
27 endometrial adenocarcinoma 31.2 TP53 MLH1 KRAS
28 cecum adenocarcinoma 31.2 PMS1 MSH6 MSH2 MLH1 KRAS
29 adenosquamous carcinoma 31.2 TP53 PIK3CA KRAS
30 hyperplastic polyposis syndrome 31.2 TP53 MUTYH KRAS BRAF APC
31 cholangiocarcinoma 31.1 TP53 PIK3CA KRAS BRAF
32 intestinal benign neoplasm 31.1 TP53 MUTYH MSH2 MLH1 KRAS APC
33 testicular germ cell tumor 31.1 TP53 MSH2 BRAF
34 ovarian clear cell carcinoma 31.1 TP53 PIK3CA KRAS
35 transitional cell carcinoma 31.0 TP53 MSH2 BRAF
36 peutz-jeghers syndrome 31.0 TP53 BRCA2 APC
37 hereditary breast ovarian cancer syndrome 30.9 TP53 MSH6 MLH1 BRCA2 BRCA1
38 attenuated familial adenomatous polyposis 30.9 MUTYH MSH6 MSH2 APC
39 brain cancer 30.9 TP53 PMS2 PIK3CA MSH6 MSH2 BRCA2
40 differentiated thyroid carcinoma 30.9 TP53 KRAS BRAF
41 bladder urothelial carcinoma 30.9 TP53 PIK3CA MLH1 KRAS BRAF
42 rhabdomyosarcoma 30.8 TP53 PMS2 MSH6 MSH2 BRCA1
43 gastric adenocarcinoma 30.8 TP53 TGFBR2 PIK3CA MLH1 KRAS EPCAM
44 ovary adenocarcinoma 30.7 TP53 POLE PIK3CA KRAS
45 endometrial cancer 30.7 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
46 li-fraumeni syndrome 30.7 TP53 MLH1 BRCA2 BRCA1
47 uterine carcinosarcoma 30.7 TP53 POLE PIK3CA
48 lung cancer susceptibility 3 30.5 TP53 TGFBR2 PIK3CA KRAS BRAF APC
49 sporadic breast cancer 30.4 TP53 BRCA2 BRCA1
50 colorectal cancer 30.2 TP53 TGFBR2 POLE PMS2 PMS1 PIK3CA

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:

59 32 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002019
2 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
3 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
5 weight loss 59 32 hallmark (90%) Very frequent (99-80%) HP:0001824
6 gastrointestinal hemorrhage 59 32 hallmark (90%) Very frequent (99-80%) HP:0002239
7 colon cancer 59 32 hallmark (90%) Very frequent (99-80%) HP:0003003
8 glioblastoma multiforme 32 hallmark (90%) HP:0012174
9 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
10 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
11 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
12 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
13 increased intracranial pressure 59 32 frequent (33%) Frequent (79-30%) HP:0002516
14 hypertonia 59 32 frequent (33%) Frequent (79-30%) HP:0001276
15 irritability 59 32 frequent (33%) Frequent (79-30%) HP:0000737
16 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
18 migraine 59 32 frequent (33%) Frequent (79-30%) HP:0002076
19 neoplasm of the rectum 59 32 frequent (33%) Frequent (79-30%) HP:0100743
20 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
21 gait disturbance 59 32 occasional (7.5%) Occasional (29-5%) HP:0001288
22 developmental regression 59 32 occasional (7.5%) Occasional (29-5%) HP:0002376
23 abnormal pyramidal sign 59 32 occasional (7.5%) Occasional (29-5%) HP:0007256
24 hallucinations 59 32 occasional (7.5%) Occasional (29-5%) HP:0000738
25 dyskinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100660
26 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
27 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
28 memory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002354
29 visual field defect 59 32 occasional (7.5%) Occasional (29-5%) HP:0001123
30 paresthesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0003401
31 amaurosis fugax 59 32 occasional (7.5%) Occasional (29-5%) HP:0100576
32 benign neoplasm of the central nervous system 59 32 occasional (7.5%) Occasional (29-5%) HP:0100835
33 pituitary adenoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002893
34 dysgraphia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010526
35 ovarian neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0100615
36 urinary tract neoplasm 59 32 occasional (7.5%) Occasional (29-5%) HP:0010786
37 intestinal polyposis 59 32 occasional (7.5%) Occasional (29-5%) HP:0200008
38 pancreatic adenocarcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0006725
39 neoplasm of the thyroid gland 59 32 occasional (7.5%) Occasional (29-5%) HP:0100031
40 neuroblastoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0003006
41 basal cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002671
42 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
43 neoplasm of the skeletal system 59 32 occasional (7.5%) Occasional (29-5%) HP:0010622
44 agnosia 59 32 occasional (7.5%) Occasional (29-5%) HP:0010524
45 cardiac diverticulum 59 32 occasional (7.5%) Occasional (29-5%) HP:0100571
46 neurological speech impairment 59 Occasional (29-5%)
47 behavioral abnormality 59 Frequent (79-30%)
48 visual impairment 59 Occasional (29-5%)
49 death in infancy 59 Frequent (79-30%)
50 death in early adulthood 59 Frequent (79-30%)

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

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.7 KRAS PIK3CA BRAF
2 Decreased viability GR00106-A-0 10.7 KRAS
3 Decreased viability GR00107-A-1 10.7 TGFBR2
4 Decreased viability GR00221-A-1 10.7 EXO1 KRAS PIK3CA PMS1 TGFBR2
5 Decreased viability GR00221-A-2 10.7 KRAS PIK3CA PMS1 BRCA1
6 Decreased viability GR00221-A-3 10.7 TGFBR2 BRCA1
7 Decreased viability GR00221-A-4 10.7 EXO1 PIK3CA TGFBR2 BRAF
8 Decreased viability GR00301-A 10.7 KRAS PMS1 BRAF BRCA1 MLH3 MSH2
9 Decreased viability GR00381-A-1 10.7 KRAS BRAF
10 Decreased viability GR00402-S-2 10.7 EXO1 KRAS PIK3CA PMS1 TGFBR2 BRAF
11 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.12 BRCA1 BRCA2 EXO1 FAN1 MLH1 POLE
12 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.12 BRCA1 BRCA2 EXO1 FAN1 MLH1 POLE
13 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 BRAF BRCA1 BRCA2 EXO1 FAN1 MLH1
14 Decreased viability in esophageal squamous lineage GR00235-A 9.96 APC BRAF BRCA1 BRCA2 EXO1 KRAS
15 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.1 APC BRAF BRCA1 BRCA2 MSH2 TGFBR2

MGI Mouse Phenotypes related to Lynch Syndrome:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.47 APC BRAF BRCA1 BRCA2 EPCAM EXO1
2 homeostasis/metabolism MP:0005376 10.39 APC BRAF BRCA1 BRCA2 EPCAM EXO1
3 hematopoietic system MP:0005397 10.35 APC BRAF BRCA1 BRCA2 EPCAM EXO1
4 endocrine/exocrine gland MP:0005379 10.31 APC BRAF BRCA1 BRCA2 EPCAM EXO1
5 immune system MP:0005387 10.31 APC BRAF BRCA1 BRCA2 EPCAM EXO1
6 digestive/alimentary MP:0005381 10.3 APC BRAF BRCA1 BRCA2 EPCAM KRAS
7 mortality/aging MP:0010768 10.28 APC BRAF BRCA1 BRCA2 EPCAM EXO1
8 neoplasm MP:0002006 10.19 APC BRAF BRCA1 BRCA2 EXO1 KRAS
9 integument MP:0010771 10.18 APC BRAF BRCA1 BRCA2 KRAS MLH1
10 embryo MP:0005380 10.16 APC BRAF BRCA1 BRCA2 EPCAM KRAS
11 liver/biliary system MP:0005370 9.91 APC BRAF FAN1 KRAS PMS2 TGFBR2
12 nervous system MP:0003631 9.9 APC BRAF BRCA1 BRCA2 EPCAM KRAS
13 reproductive system MP:0005389 9.36 APC BRAF BRCA1 BRCA2 EXO1 KRAS
14 pigmentation MP:0001186 9.35 APC BRAF BRCA1 KRAS TP53

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
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
2
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
3
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
4
leucovorin Approved Phase 3 58-05-9 143 6006
5
Bevacizumab Approved, Investigational Phase 3 216974-75-3
6
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
7
Fluorouracil Approved Phase 3 51-21-8 3385
8
Levonorgestrel Approved, Investigational Phase 3 797-63-7, 17489-40-6 13109
9
Loperamide Approved Phase 3 53179-11-6 3955
10
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
11
Calcium Approved, Nutraceutical Phase 3 7440-70-2 271
12 Acetylsalicylic acid lysinate Phase 3
13 Hormones Phase 3
14 Vitamins Phase 3
15 Antibodies Phase 3
16 Immunoglobulins Phase 3
17 Antineoplastic Agents, Immunological Phase 3
18 Immunologic Factors Phase 3
19 Angiogenesis Inhibitors Phase 3
20 Immunoglobulin G Phase 3
21 Micronutrients Phase 3
22 Antidotes Phase 3
23 Mitogens Phase 3
24 Trace Elements Phase 3
25 Angiogenesis Modulating Agents Phase 3
26 Vitamin B9 Phase 3
27 Hematinics Phase 3
28 Folate Phase 3
29 Protective Agents Phase 3
30 Immunosuppressive Agents Phase 3
31 Vitamin B Complex Phase 3
32 Nutrients Phase 3
33 Antibodies, Monoclonal Phase 3
34 Calcium, Dietary Phase 3
35 Antimetabolites Phase 3
36 Antimetabolites, Antineoplastic Phase 3
37 Bone Density Conservation Agents Phase 3
38 Endothelial Growth Factors Phase 3
39 Cyclooxygenase Inhibitors Phase 3
40 Analgesics, Non-Narcotic Phase 3
41 Fibrinolytic Agents Phase 3
42 Peripheral Nervous System Agents Phase 3
43 Analgesics Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45 Platelet Aggregation Inhibitors Phase 3
46 Anti-Inflammatory Agents Phase 3
47 Antipyretics Phase 3
48 Antirheumatic Agents Phase 3
49 Cola Phase 3
50 Contraceptives, Oral Phase 3

Interventional clinical trials:

(show top 50) (show all 108)
# Name Status NCT ID Phase Drugs
1 Assessment of the Effect of a Daily Chemoprevention by Low-dose Aspirin of New or Recurrent Colorectal Adenomas in Patients With Lynch Syndrome Recruiting NCT02813824 Phase 3 Acetylsalicylic acid lysinate 300 mg;Placebo (for Aspirin 300);Acetylsalicylic acid lysinate 100 mg;Placebo 100 (for Aspirin 100)
2 Randomized Trial of Standard Chemotherapy Alone or Combined With Atezolizumab as Adjuvant Therapy for Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair Recruiting NCT02912559 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
3 A Randomized Phase III Study Comparing 5-FU, Leucovorin and Oxaliplatin Versus 5-FU, Leucovorin, Oxaliplatin and Bevacizumab in Patients With Stage II Colon Cancer at High Risk for Recurrence to Determine Prospectively the Prognostic Value of Molecular Markers Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
4 A Randomised Double Blind Dose Non-inferiority Trial of a Daily Dose of 600mg Versus 300mg Versus 100mg of Enteric Coated Aspirin as a Cancer Preventive in Carriers of a Germline Pathological Mismatch Repair Gene Defect, Lynch Syndrome Not yet recruiting NCT02497820 Phase 3 Aspirin
5 PRODIGE 33 - BALLAD - Phase III Trial Investigating the Potential Benefit of Adjvant Chemotherapy for Small Bowel Adenocarcinoma Not yet recruiting NCT02502370 Phase 3 observation alone;LV5FU2;FOLFOX
6 Prevention of Endometrial Tumors (POET) Terminated NCT00566644 Phase 3
7 Prospective Randomized Control Study on Effect of Post Operative Loperamide in Decreasing Readmission for Dehydration in Colorectal Patients After Diverting Ileostomies Terminated NCT02263365 Phase 3 Loperamide
8 Early Detection of Pre-cancer Lesions in Adults With Hereditary Nonpolyposis Colorectal Cancer (HNPCC) Syndrome: Assessment of Coloscopy With Chromoscopy Benefit Completed NCT00224601 Phase 2
9 Modulation Of Putative Surrogate Endpoint Biomarkers In Endometrial Biopsies From Women With HNPCC Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
10 Phase I/IIa Study of Immunization With Frameshift Peptides Administered With Montanide® ISA-51 VG in Patients With Advanced MSI-H Colorectal Cancer Completed NCT01461148 Phase 1, Phase 2
11 Detection and Classification of Colon Polyps: A Comparison of High Definition White Light and Narrow Band Imaging (Endoscopic Trimodal Imaging; ETMI) Completed NCT00825292 Phase 2
12 Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE) Recruiting NCT03831698 Phase 2 Omega-3 fatty acid ethyl esters (2 gram)
13 Phase II Study of Concurrent and Sequential Carboplatin and Paclitaxel With Adjuvant Radiotherapy for High Risk Endometrial Cancer Recruiting NCT03935256 Phase 2 Carboplatin and Paclitaxel
14 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
15 A Phase II Study of PD-1 Inhibition for the Prevention of Colon Adenomas in Patients With Lynch Syndrome and a History of Partial Colectomy Suspended NCT03631641 Phase 2
16 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome - MesaCAPP Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
17 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)
18 Visualization of a VEGF-targeted Near-Infrared Fluorescent Tracer in Patients With Familial Adenomatous Polyposis During Fluorescence Endoscopy A Single Center Pilot Intervention Study Completed NCT02113202 Phase 1 Bevacizumab-IRDye800CW
19 A Safety and Preliminary Efficacy Trial of MK-3475 (Pembrolizumab; Anti-PD-1) in Children With Recurrent, Progressive or Refractory Diffuse Intrinsic Pontine Glioma (DIPG), Non-Brainstem High-Grade Gliomas (NB-HGG), Ependymoma, Medulloblastoma or Hypermutated Brain Tumors Recruiting NCT02359565 Phase 1
20 A Phase Ib Biomarker Trial of Naproxen in Patients at Risk for DNA Mismatch Repair Deficient Colorectal Cancer Active, not recruiting NCT02052908 Phase 1 Naproxen
21 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
22 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Risk Calculation and Risk Communication Unknown status NCT00929097
23 Cost Effectiveness of Two Different Implementation Procedures to Change Clinicians Practice Roles in the Detection of Hereditary Colorectal Cancer Unknown status NCT00141466
24 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
25 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
26 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
27 Prognostic Impact of Immunohistochemical and Molecular Expression of the Endocytosis Receptor LRP1 in Colonic Adenocarcinomas Unknown status NCT02788669
28 Prospective Study for Evaluating Colon Polyp Histology With in Vivo Probe Based Confocal Laser Endomicroscopy Unknown status NCT01214031
29 Capsule Endoscopy in Lynch Syndrome for Small Intestinal Tumor Screening Completed NCT00898768 Early Phase 1
30 Screening for Gynecologic Cancers Among Women With Hereditary Non-Polyposis Colon Cancer (HNPCC) Completed NCT00508846
31 Outcomes in Education and Counseling for HNPCC Testing Completed NCT00004210
32 Vanderbilt Hereditary Colorectal Cancer Registry Completed NCT00675636
33 Chromoendoscopy in Lynch Syndrome Patients Completed NCT00905710
34 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
35 Facilitating Informed Decisions for MSI Testing Completed NCT00450424
36 Diagnosis of Lynch Syndrome Based on Next-generation Sequencing in Colorectal Cancer Patients Meeting Chinese Lynch Syndrome Criteria: An Open-label and Multi-center Study. Completed NCT03046849
37 Psychosocial Aspects of Genetic Testing for HNPCC Completed NCT00341575
38 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
39 Back-to Back Trial of Narrow Band Imaging (NBI) With Magnification Versus Standard Colonoscopy for Colonic Neoplasia Surveillance in Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Patients Completed NCT00313755
40 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
41 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
42 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
43 Diagnosis of Lynch Syndrome Based on the Colorectal Core™ Platform in Colorectal Cancer Patients With the Loss of Staining by Immunohistochemistry (IHC) of Any of the Mismatch Repair (MMR) Proteins: An Open-label and Multi-center Study Completed NCT03047226
44 Comparison of Colonoscopy With Virtual Chromoendoscopy Using 3rd Generation NBI System to Chromoendoscopy With Indigo Carmine in Lynch Patients. Completed NCT02570516
45 High Definition White-Light Colonoscopy Versus Chromoendoscopy for Surveillance of Lynch Syndrome. A Prospective, Multicenter and Randomized Study Completed NCT02951390
46 A Pilot Study for Combined Colon and Endometrial Cancer Screening in Women at High-Risk for Colon and Endometrial Cancer Completed NCT00510796
47 Attitudes Towards Prophylactic Colectomy in HNPCC Patients Completed NCT00582452
48 Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome Completed NCT01850654
49 A Prospective Study Of The Prognostic Significance Of Microsatellite Instability In Patients With Early Age-Of-Onset Colorectal Cancer Completed NCT00044967
50 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505

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 29
2 Lynch Syndrome Ii 29 MLH1
3 Hereditary Nonpolyposis Colorectal Carcinoma 29

Anatomical Context for Lynch Syndrome

MalaCards organs/tissues related to Lynch Syndrome:

41
Colon, Testes, Skin, Brain, Small Intestine, Ovary, Breast

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

(show top 50) (show all 4081)
# Title Authors PMID Year
1
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. 9 38 4 71
19098912 2009
2
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 9 38 4 71
16472587 2006
3
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 38 4 71
25070057 2014
4
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 38 4 71
24310308 2014
5
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 38 4 71
23408351 2013
6
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 38 4 71
9354786 1997
7
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 9 38 71
19419416 2009
8
HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 4 71
9590282 1998
9
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 38 71
25711197 2015
10
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 38 71
25318681 2015
11
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 38 71
25645574 2015
12
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 38 71
25452455 2015
13
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 38 71
25003300 2014
14
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 38 71
23709753 2013
15
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 38 71
23535968 2013
16
Identification of individuals at risk for Lynch syndrome using targeted evaluations and genetic testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer joint practice guideline. 38 71
22167527 2012
17
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. 38 71
21953887 2012
18
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families. 38 71
21785361 2011
19
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. 38 71
20858721 2010
20
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 38 71
20533529 2010
21
Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. 9 38 4
19949877 2010
22
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 9 38 4
20205264 2010
23
Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. 9 38 4
19900449 2010
24
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. 9 38 4
19455606 2009
25
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. 38 71
19156873 2009
26
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 9 38 4
19728162 2009
27
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. 38 71
19142183 2009
28
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 9 38 4
18709565 2008
29
The first functional study of MLH3 mutations found in cancer patients. 38 71
18521850 2008
30
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. 38 71
18301449 2008
31
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 38 71
18178629 2008
32
The frequency of Muir-Torre syndrome among Lynch syndrome families. 9 38 4
18270343 2008
33
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 38 71
17440981 2007
34
Inheritance of a cancer-associated MLH1 germ-line epimutation. 38 71
17301300 2007
35
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. 9 38 4
16826164 2006
36
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. 38 71
16951683 2006
37
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 38 71
16341550 2006
38
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 38 71
15887124 2005
39
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 38 71
15571801 2004
40
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 38 71
15139004 2004
41
Germline epimutation of MLH1 in individuals with multiple cancers. 38 71
15064764 2004
42
MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. 38 71
15042510 2004
43
Lynch Syndrome 38 71
20301390 2004
44
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. 38 71
14871915 2004
45
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 38 71
14635101 2003
46
Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene. 38 71
12658575 2003
47
The role of hMLH3 in familial colorectal cancer. 38 71
12702580 2003
48
Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. 38 71
11781295 2002
49
A role for MLH3 in hereditary nonpolyposis colorectal cancer. 38 71
11586295 2001
50
Missense mutations in hMLH1 associated with colorectal cancer. 38 71
10598809 1999

Variations for Lynch Syndrome

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 8532)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSH6 NM_000179.2(MSH6): c.3573dup (p.Val1192fs) duplication Pathogenic rs1057517764 2:48032773-48032773 2:47805634-47805634
2 MSH6 NM_000179.2(MSH6): c.3449T> A (p.Leu1150Ter) single nucleotide variant Pathogenic rs1057517763 2:48032059-48032059 2:47804920-47804920
3 PMS2 NM_000535.7(PMS2): c.1743del (p.Glu582fs) deletion Pathogenic rs1057517801 7:6026653-6026653 7:5987022-5987022
4 PMS2 NM_000535.7(PMS2): c.445del (p.Tyr149fs) deletion Pathogenic rs769742496 7:6042176-6042176 7:6002545-6002545
5 PMS2 NM_000535.7(PMS2): c.2140C> T (p.Gln714Ter) single nucleotide variant Pathogenic rs1057524433 7:6022489-6022489 7:5982858-5982858
6 PMS2 NM_000535.7(PMS2): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs587780724 7:6027020-6027020 7:5987389-5987389
7 EPCAM NC_000002.11: g.(?_47604153)_(47604216_?)del deletion Pathogenic 2:47604153-47604216 2:47377014-47377077
8 MSH2 NC_000002.11: g.(?_47630206)_(47630541_?)del deletion Pathogenic 2:47630206-47630541 2:47403067-47403402
9 MSH6 NC_000002.11: g.(?_48018066)_(48018262_?)del deletion Pathogenic 2:48018066-48018262 2:47790927-47791123
10 EPCAM NC_000002.11: g.(?_47606092)_(47614167_?)del deletion Pathogenic 2:47606092-47614167 2:47378953-47387028
11 MSH2 NM_000251.2(MSH2): c.1277-?_1386+?del deletion Pathogenic
12 MSH2 NM_000251.2(MSH2): c.2006-?_2210+?del deletion Pathogenic 2:47703506-47703710 2:47476367-47476571
13 EPCAM NC_000002.11: g.(?_47596287)_(47614167_?)del deletion Pathogenic 2:47596287-47614167 2:47369148-47387028
14 MSH2 NC_000002.11: g.(?_47630206)_(47635694_?)del deletion Pathogenic 2:47630206-47635694 2:47403067-47408555
15 MSH2 NM_000251.2(MSH2): c.212-?_366+?del deletion Pathogenic 2:47635540-47635694 2:47408401-47408555
16 MSH2 NM_000251.2(MSH2): c.367-?_1076+?del deletion Pathogenic
17 MSH2 NC_000002.11: g.(?_47639553)_(47710367_?)del deletion Pathogenic 2:47639553-47710367 2:47412414-47483228
18 MSH6 NC_000002.11: g.(?_48018066)_(48028294_?)del deletion Pathogenic 2:48018066-48028294 2:47790927-47801155
19 MSH2 NM_000251.2(MSH2): c.1277-?_1661+?del deletion Pathogenic 2:47672687-47693947 2:47445548-47466808
20 MSH2 NM_000251.2(MSH2): c.1277-?_2634+?del deletion Pathogenic
21 MSH2 NC_000002.11: g.(?_47630206)_(47710367_?)del deletion Pathogenic 2:47630206-47710367 2:47403067-47483228
22 MSH6 NM_000179.2(MSH6): c.458-?_3556+?del deletion Pathogenic 2:48023033-48032166 2:47795894-47805027
23 MSH6 NC_000002.11: g.(?_48030559)_(48032166_?)del deletion Pathogenic 2:48030559-48032166 2:47803420-47805027
24 MSH2 NM_000251.2(MSH2): c.1308dup (p.Val437fs) duplication Pathogenic rs1060502035 2:47672718-47672718 2:47445579-47445579
25 MSH2 NM_000251.2(MSH2): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs786202083 2:47635678-47635678 2:47408539-47408539
26 MSH2 NM_000251.2(MSH2): c.510dup (p.Arg171fs) duplication Pathogenic rs1553350787 2:47637376-47637376 2:47410237-47410237
27 MSH2 NM_000251.2(MSH2): c.1667dup (p.Leu556fs) duplication Pathogenic rs267607694 2:47698109-47698109 2:47470970-47470970
28 MSH2 NM_000251.2(MSH2): c.1796del (p.Val598_Leu599insTer) deletion Pathogenic rs1060502039 2:47702200-47702200 2:47475061-47475061
29 MSH2 NM_000251.2(MSH2): c.2161G> T (p.Gly721Ter) single nucleotide variant Pathogenic rs1060502032 2:47703661-47703661 2:47476522-47476522
30 MSH2 NM_000251.2(MSH2): c.85A> T (p.Lys29Ter) single nucleotide variant Pathogenic rs1060502001 2:47630415-47630415 2:47403276-47403276
31 MSH2 NM_000251.2(MSH2): c.87_90del (p.Thr31fs) deletion Pathogenic rs1060502000 2:47630417-47630420 2:47403278-47403281
32 MSH2 NM_000251.2(MSH2): c.943-1G> T single nucleotide variant Pathogenic rs12476364 2:47643434-47643434 2:47416295-47416295
33 MSH2 NM_000251.2(MSH2): c.830T> A (p.Leu277Ter) single nucleotide variant Pathogenic rs786203424 2:47641445-47641445 2:47414306-47414306
34 MSH6 NM_000179.2(MSH6): c.261-3237_3735del deletion Pathogenic 2:48014829-48033431 2:47787690-47806292
35 MSH2 NM_000251.2(MSH2): c.1470_1473delinsAAA (p.Met492fs) indel Pathogenic rs1060502029 2:47690253-47690256 2:47463114-47463117
36 MSH6 NM_000179.2(MSH6): c.896del (p.Lys299fs) deletion Pathogenic rs1060502941 2:48026018-48026018 2:47798879-47798879
37 MSH6 NM_000179.2(MSH6): c.1805C> A (p.Ser602Ter) single nucleotide variant Pathogenic rs730881816 2:48026927-48026927 2:47799788-47799788
38 MSH2 NM_000251.2(MSH2): c.2640_2656del (p.Glu881fs) deletion Pathogenic rs1064792951 2:47709923-47709939 2:47482784-47482800
39 MSH6 NM_000179.2(MSH6): c.2294dup (p.Cys765fs) duplication Pathogenic rs1553413673 2:48027416-48027416 2:47800277-47800277
40 MSH6 NM_000179.2(MSH6): c.2010del (p.Gly670_Leu671insTer) deletion Pathogenic rs1060502918 2:48027132-48027132 2:47799993-47799993
41 MSH6 NM_000179.2(MSH6): c.2735G> A (p.Trp912Ter) single nucleotide variant Pathogenic rs1060502876 2:48027857-48027857 2:47800718-47800718
42 MSH6 NM_000179.2(MSH6): c.873_874del (p.Asn291fs) deletion Pathogenic rs1060502888 2:48025995-48025996 2:47798856-47798857
43 MSH6 NM_000179.2(MSH6): c.999del (p.Lys334fs) deletion Pathogenic rs1060502932 2:48026121-48026121 2:47798982-47798982
44 MSH6 NM_000179.2(MSH6): c.3253del (p.Thr1085fs) deletion Pathogenic rs1060502891 2:48030639-48030639 2:47803500-47803500
45 MSH6 NM_000179.2(MSH6): c.1333_1334del (p.Val444_Ser445insTer) deletion Pathogenic rs1060502940 2:48026455-48026456 2:47799316-47799317
46 MSH6 NM_000179.2(MSH6): c.1572C> A (p.Tyr524Ter) single nucleotide variant Pathogenic rs587779215 2:48026694-48026694 2:47799555-47799555
47 MSH6 NM_000179.2(MSH6): c.3973A> T (p.Lys1325Ter) single nucleotide variant Pathogenic rs1060502937 2:48033762-48033762 2:47806623-47806623
48 MSH6 NM_000179.2(MSH6): c.3556+1G> A single nucleotide variant Pathogenic rs1060502926 2:48032167-48032167 2:47805028-47805028
49 MSH6 NM_000179.2(MSH6): c.3188T> G (p.Leu1063Arg) single nucleotide variant Pathogenic rs1060502901 2:48030574-48030574 2:47803435-47803435
50 MSH6 NM_000179.2(MSH6): c.1815_1816del (p.Lys606fs) deletion Pathogenic rs1060502886 2:48026937-48026938 2:47799798-47799799

Copy number variations for Lynch Syndrome from CNVD:

7 (show all 14)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 134337 2 1 68600000 Copy number MSH2 Lynch syndrome
2 146238 2 47483766 47760012 Deletion MSH2 Lynch syndrome
3 146253 2 47483766 47760012 Genomic rearrangemen t MSH2 Lynch syndrome
4 146257 2 47483766 47760012 Rearrangement MSH2 Lynch syndrome
5 146327 2 47863724 47887596 Copy number MSH6 Lynch syndrome
6 146343 2 47863724 47887596 Genomic rearrangemen t MSH6 Lynch syndrome
7 166103 3 1 50600000 Copy number MLH1 Lynch syndrome
8 168775 3 13300000 39400000 Copy number Lynch syndrome
9 174999 3 37009982 37067341 Deletion MLH1 Lynch syndrome
10 175014 3 37009982 37067341 Genomic rearrangemen t MLH1 Lynch syndrome
11 175017 3 37009982 37067341 Rearrangement MLH1 Lynch syndrome
12 217078 7 1 45400000 Copy number PMS2 Lynch syndrome
13 217125 7 1 7200000 Deletion PMS2 Lynch syndrome
14 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 47)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 TP53 POLE PMS2 MUTYH MSH6 MSH3
2
Show member pathways
12.94 TP53 PMS2 MSH2 MLH1 EXO1 BRCA1
3
Show member pathways
12.92 TP53 MSH6 MSH3 MSH2 MLH1 KRAS
4
Show member pathways
12.78 TP53 TGFBR2 PIK3CA MLH1 KRAS BRCA2
5
Show member pathways
12.74 TP53 TGFBR2 PIK3CA MSH6 MSH3 MSH2
6
Show member pathways
12.71 TP53 PIK3CA MSH6 KRAS BRCA2 BRCA1
7
Show member pathways
12.7 TP53 POLE MSH6 MSH3 MSH2 BRCA2
8
Show member pathways
12.69 TP53 PIK3CA KRAS BRAF APC
9 12.62 TP53 TGFBR2 PIK3CA MSH6 MSH3 MSH2
10
Show member pathways
12.55 TP53 PIK3CA KRAS BRAF
11 12.52 TP53 PIK3CA KRAS BRCA1 APC
12
Show member pathways
12.49 TP53 PIK3CA KRAS BRAF APC
13 12.49 TP53 MUTYH MSH6 MSH2 MLH1 BRCA2
14
Show member pathways
12.47 MLH3 MLH1 BRCA2 BRCA1
15
Show member pathways
12.4 TP53 TGFBR2 PIK3CA KRAS
16 12.38 TP53 TGFBR2 POLE PIK3CA KRAS APC
17
Show member pathways
12.37 PIK3CA KRAS BRCA1 BRAF
18 12.27 TP53 PIK3CA KRAS BRAF
19
Show member pathways
12.25 POLE EXO1 BRCA2 BRCA1
20
Show member pathways
12.2 TP53 TGFBR2 PIK3CA KRAS BRAF
21
Show member pathways
12.18 TP53 PIK3CA KRAS BRAF
22 12.16 TP53 TGFBR2 MSH6 MSH2 KRAS BRCA2
23 12.15 TP53 TGFBR2 PIK3CA KRAS
24 12.1 TP53 PMS2 MSH2 MLH1 APC
25
Show member pathways
12.07 TGFBR2 PIK3CA KRAS BRAF
26 11.98 TP53 PIK3CA KRAS APC
27 11.95 TP53 KRAS BRAF APC
28 11.89 PMS2 MLH1 FAN1 BRCA2 BRCA1
29 11.87 TGFBR2 PIK3CA KRAS
30 11.85 TGFBR2 KRAS BRAF
31 11.83 TP53 TGFBR2 MSH6 MSH3 MSH2 MLH1
32 11.81 TP53 POLE MSH6
33
Show member pathways
11.81 TP53 MSH6 MSH2 BRCA2 BRCA1
34
Show member pathways
11.77 PIK3CA KRAS BRAF
35 11.73 TP53 PIK3CA MSH6 MSH3 MSH2 MLH1
36 11.71 TP53 KRAS BRAF
37 11.68 TP53 PIK3CA KRAS
38 11.66 TP53 PIK3CA BRCA1
39 11.61 TP53 MSH6 MSH3 MSH2 MLH1 KRAS
40 11.56 TP53 PIK3CA APC
41 11.54 TP53 MSH6 MSH2 BRCA1
42
Show member pathways
11.42 TP53 MSH2 MLH1
43 11.37 TGFBR2 PIK3CA KRAS BRAF
44 11.27 PMS2 MSH6 MSH2 MLH1
45 11.26 TGFBR2 KRAS APC
46
Show member pathways
11.25 POLE PMS2 PMS1 MSH6 MSH3 MSH2
47 11.21 PIK3CA KRAS BRAF

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 nucleoplasm GO:0005654 9.97 TP53 POLE PMS2 MUTYH MSH6 MSH3
2 condensed nuclear chromosome GO:0000794 9.61 MLH3 MLH1 BRCA1
3 lateral element GO:0000800 9.46 BRCA2 BRCA1
4 MutSalpha complex GO:0032301 9.4 MSH6 MSH2
5 MutSbeta complex GO:0032302 9.37 MSH3 MSH2
6 chiasma GO:0005712 9.32 MLH3 MLH1
7 MutLalpha complex GO:0032389 9.26 PMS2 PMS1 MLH3 MLH1
8 mismatch repair complex GO:0032300 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
9 nucleus GO:0005634 10.16 TP53 POLE PMS2 PMS1 MUTYH MSH6

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.88 PIK3CA MSH2 KRAS BRAF
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.88 POLE PMS2 FAN1 EXO1
3 double-strand break repair via homologous recombination GO:0000724 9.81 FAN1 BRCA2 BRCA1
4 mismatch repair GO:0006298 9.81 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
5 double-strand break repair GO:0006302 9.8 MSH2 BRCA2 BRCA1
6 nucleotide-excision repair GO:0006289 9.77 TP53 FAN1 BRCA2
7 DNA repair GO:0006281 9.77 POLE PMS2 PMS1 MUTYH MSH6 MSH3
8 reciprocal meiotic recombination GO:0007131 9.74 MSH3 MLH3 MLH1
9 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.73 TP53 MSH2 BRCA2
10 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 MSH6 MSH2 MLH1 BRCA2 BRCA1
11 negative regulation of DNA recombination GO:0045910 9.71 MSH6 MSH3 MSH2
12 determination of adult lifespan GO:0008340 9.7 TP53 MSH6 MSH2
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.69 TP53 BRCA2 BRCA1
14 positive regulation of helicase activity GO:0051096 9.67 MSH6 MSH3 MSH2
15 isotype switching GO:0045190 9.67 MSH6 MSH2 MLH1 EXO1
16 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 PMS2 MSH6 MSH2 MLH1 EXO1
17 postreplication repair GO:0006301 9.64 MSH2 BRCA1
18 positive regulation of isotype switching to IgG isotypes GO:0048304 9.63 MSH2 MLH1
19 maintenance of DNA repeat elements GO:0043570 9.63 MSH6 MSH3 MSH2
20 interstrand cross-link repair GO:0036297 9.61 MSH6 FAN1
21 positive regulation of isotype switching to IgA isotypes GO:0048298 9.61 MSH2 MLH1
22 somatic recombination of immunoglobulin gene segments GO:0016447 9.61 MSH6 MSH2 MLH1
23 chordate embryonic development GO:0043009 9.59 BRCA2 BRCA1
24 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.55 MSH2 MLH1
25 cellular response to DNA damage stimulus GO:0006974 9.5 TP53 POLE PMS2 PMS1 MUTYH MSH6
26 meiotic mismatch repair GO:0000710 9.4 MSH6 MSH3
27 mitotic recombination GO:0006312 9.33 MSH3
28 pyrimidine dimer repair GO:0006290 9.32 MSH6
29 replication fork arrest GO:0043111 9.18 MSH3

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.98 TP53 PMS1 MSH6 MSH3 MSH2 MLH1
2 endonuclease activity GO:0004519 9.78 PMS2 FAN1 EXO1
3 DNA-dependent ATPase activity GO:0008094 9.77 MSH6 MSH3 MSH2
4 damaged DNA binding GO:0003684 9.73 MSH6 MSH2 BRCA1
5 MutSalpha complex binding GO:0032407 9.7 PMS2 MUTYH MLH1
6 MutLalpha complex binding GO:0032405 9.69 MUTYH MSH6 MSH2
7 four-way junction DNA binding GO:0000400 9.62 MSH6 MSH2
8 5'-3' exonuclease activity GO:0008409 9.61 FAN1 EXO1
9 5'-flap endonuclease activity GO:0017108 9.6 FAN1 EXO1
10 dinucleotide insertion or deletion binding GO:0032139 9.58 MSH3 MSH2
11 dinucleotide repeat insertion binding GO:0032181 9.57 MSH3 MSH2
12 oxidized purine DNA binding GO:0032357 9.56 MUTYH MSH6 MSH3 MSH2
13 single guanine insertion binding GO:0032142 9.5 MSH6 MSH3 MSH2
14 centromeric DNA binding GO:0019237 9.49 MSH2 MLH3
15 guanine/thymine mispair binding GO:0032137 9.46 MSH6 MSH3 MSH2 MLH1
16 single thymine insertion binding GO:0032143 9.4 MSH6 MSH2
17 single-stranded DNA binding GO:0003697 9.35 PMS2 MSH3 MSH2 MLH1 BRCA2
18 double-strand/single-strand DNA junction binding GO:0000406 9.28 MSH2
19 mismatched DNA binding GO:0030983 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
20 protein binding GO:0005515 10.53 TP53 TGFBR2 POLE PMS2 PIK3CA MUTYH
21 DNA binding GO:0003677 10.23 TP53 POLE PMS2 PMS1 MUTYH MSH6
22 ATP binding GO:0005524 10.11 TP53 TGFBR2 PMS2 PMS1 PIK3CA MSH6
23 chromatin binding GO:0003682 10.02 TP53 POLE MSH6 MSH2 MLH3 MLH1
24 ATPase activity GO:0016887 10.01 PMS2 PMS1 MSH6 MSH2 MLH3 MLH1

Sources for Lynch Syndrome

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