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 74 24 52 25 58 29 54 6 15
Hereditary Nonpolyposis Colorectal Cancer 12 52 25 58 71
Hereditary Nonpolyposis Colorectal Carcinoma 29 6 17 71
Hnpcc 24 52 25 58
Hereditary Nonpolyposis Colon Cancer 58 54 6
Familial Nonpolyposis Colon Cancer 52 25 58
Lynch Syndrome Ii 29 54 6
Hereditary Nonpolyposis Colorectal Neoplasms 25 71
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 71
Hereditary Defective Mismatch Repair Syndrome 12
Colorectal Neoplasms, Hereditary Nonpolyposis 43
Hnpcc - Hereditary Nonpolyposis Colon Cancer 12
Cancer, Colorectal, Nonpolyposis, Hereditary 39
Hereditary Nonpolyposis Colorectal Neoplasm 12
Colorectal Cancer, Hereditary Nonpolyposis 52
Familial Nonpolyposis Colorectal Cancer 58
Hereditary Non-Polyposis Colon Cancer 24
Colon Cancer, Familial Nonpolyposis 52
Cancer Family Syndrome 25
Lynch Syndrome 1 52
Lynch Syndrome 2 52
Coca 1 12
Coca1 52

Characteristics:

Orphanet epidemiological data:

58
lynch syndrome
Inheritance: Autosomal dominant; Age of onset: Adult;

HPO:

31
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:

Orphanet: 58  
Rare gastroenterological diseases


Summaries for Lynch Syndrome

NIH Rare Diseases : 52 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 Oxaliplatin have been mentioned in the context of this disorder. Affiliated tissues include colon, testes and breast, and related phenotypes are constipation and malabsorption

Disease Ontology : 12 A syndrome 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 : 74 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 413)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome i 35.7 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
2 mismatch repair cancer syndrome 34.2 PMS2 PMS1 MSH6 MSH2 MLH1 APC
3 muir-torre syndrome 34.0 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
4 ovarian cancer 33.8 TP53 TGFBR2 PMS2 PMS1 PIK3CA MSH6
5 colorectal cancer, hereditary nonpolyposis, type 5 33.8 PMS2 MUTYH MSH6 MSH2 MLH1 BRAF
6 colorectal cancer, hereditary nonpolyposis, type 6 33.7 TGFBR2 PMS2 PMS1 MUTYH MSH6 MSH2
7 colorectal cancer, hereditary nonpolyposis, type 4 33.7 PMS2 PMS1 MLH1
8 pancreatic cancer 33.4 TP53 TGFBR2 PIK3CA MSH2 MLH1 KRAS
9 gastric cancer 33.4 TP53 TGFBR2 PIK3CA MUTYH MSH2 MLH1
10 endometrial cancer 32.8 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
11 colorectal cancer 32.5 TP53 TGFBR2 PMS2 PMS1 PIK3CA MUTYH
12 adenoma 32.5 TP53 TGFBR2 PIK3CA MUTYH MSH6 MSH2
13 familial colorectal cancer 32.3 TP53 TGFBR2 MUTYH MSH2 MLH1 BRAF
14 adenocarcinoma 32.3 TP53 TGFBR2 PIK3CA MSH6 MSH2 MLH1
15 familial adenomatous polyposis 32.2 TP53 PMS1 MUTYH MSH6 MSH3 MSH2
16 colorectal adenoma 32.2 TP53 MUTYH MSH2 MLH1 KRAS APC
17 colorectal adenocarcinoma 32.0 TP53 PMS2 MSH6 MSH2 MLH1 KRAS
18 small intestine cancer 31.9 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
19 rectum cancer 31.8 MUTYH MSH6 MSH2 MLH1 KRAS APC
20 endometrial hyperplasia 31.7 TP53 MSH6 MSH2 MLH1 KRAS
21 mucinous adenocarcinoma 31.7 TP53 MLH1 KRAS
22 appendix carcinoid tumor 31.6 PMS2 MSH6 MSH2 MLH1
23 transitional cell carcinoma 31.6 TP53 MSH2 MLH1 BRAF
24 colon adenocarcinoma 31.6 TP53 PMS2 PIK3CA MSH6 MLH1 KRAS
25 lymphoma 31.6 TP53 PMS2 PIK3CA MSH6 MSH2 BRCA2
26 intestinal benign neoplasm 31.6 TP53 PMS2 PIK3CA MUTYH MSH6 MSH2
27 hereditary breast ovarian cancer syndrome 31.6 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
28 skin benign neoplasm 31.6 MSH6 MSH2 MLH1 BRAF
29 thyroid carcinoma 31.6 TP53 PIK3CA BRAF
30 bladder cancer 31.6 TP53 PIK3CA MLH1 KRAS BRCA2 BRCA1
31 hyperplastic polyposis syndrome 31.6 TP53 MUTYH KRAS BRAF APC
32 adrenocortical carcinoma, hereditary 31.6 TP53 PIK3CA BRAF
33 squamous cell carcinoma 31.6 TP53 TGFBR2 PIK3CA EPCAM BRAF
34 intrahepatic cholangiocarcinoma 31.5 TP53 KRAS EPCAM APC
35 gastric adenocarcinoma 31.5 TP53 TGFBR2 PIK3CA MLH1 KRAS EPCAM
36 thyroid tumor 31.5 TP53 PIK3CA KRAS BRAF
37 prostate cancer 31.5 TP53 TGFBR2 PIK3CA MSH6 MSH2 KRAS
38 cholangiocarcinoma 31.5 TP53 PIK3CA KRAS BRAF APC
39 breast cancer 31.5 TP53 TGFBR2 PMS2 PIK3CA MSH6 MSH3
40 cervical squamous cell carcinoma 31.5 TP53 PIK3CA MLH1 KRAS
41 carcinosarcoma 31.5 TP53 PIK3CA KRAS
42 brain cancer 31.5 TP53 PMS2 PIK3CA MSH6 MSH2 BRCA2
43 melanoma, cutaneous malignant 1 31.4 TP53 PMS2 PIK3CA MSH6 MSH2 MLH1
44 familial ovarian cancer 31.4 BRCA2 BRCA1
45 ascending colon cancer 31.4 MSH2 MLH1 KRAS
46 sebaceous adenocarcinoma 31.4 TP53 PMS2 PMS1 MSH6 MSH2 MLH1
47 pancreatic adenocarcinoma 31.4 TP53 TGFBR2 PIK3CA MLH1 KRAS EPCAM
48 thyroid gland anaplastic carcinoma 31.4 TP53 PIK3CA BRAF
49 rhabdomyosarcoma 31.4 TP53 PMS2 MSH6 MSH2 KRAS BRCA1
50 small intestine adenocarcinoma 31.4 PMS2 MSH6 MSH2 MLH1 KRAS

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:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 constipation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002019
2 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
5 weight loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0001824
6 gastrointestinal hemorrhage 58 31 hallmark (90%) Very frequent (99-80%) HP:0002239
7 colon cancer 58 31 hallmark (90%) Very frequent (99-80%) HP:0003003
8 glioblastoma multiforme 31 hallmark (90%) HP:0012174
9 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250
10 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
11 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
12 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252
13 increased intracranial pressure 58 31 frequent (33%) Frequent (79-30%) HP:0002516
14 hypertonia 58 31 frequent (33%) Frequent (79-30%) HP:0001276
15 irritability 58 31 frequent (33%) Frequent (79-30%) HP:0000737
16 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
17 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
18 migraine 58 31 frequent (33%) Frequent (79-30%) HP:0002076
19 neoplasm of the rectum 58 31 frequent (33%) Frequent (79-30%) HP:0100743
20 abnormal pyramidal sign 58 31 occasional (7.5%) Occasional (29-5%) HP:0007256
21 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
22 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
23 developmental regression 58 31 occasional (7.5%) Occasional (29-5%) HP:0002376
24 hallucinations 58 31 occasional (7.5%) Occasional (29-5%) HP:0000738
25 dyskinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100660
26 visual field defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001123
27 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
28 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
29 memory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002354
30 paresthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003401
31 amaurosis fugax 58 31 occasional (7.5%) Occasional (29-5%) HP:0100576
32 benign neoplasm of the central nervous system 58 31 occasional (7.5%) Occasional (29-5%) HP:0100835
33 pituitary adenoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002893
34 dysgraphia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010526
35 ovarian neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0100615
36 urinary tract neoplasm 58 31 occasional (7.5%) Occasional (29-5%) HP:0010786
37 intestinal polyposis 58 31 occasional (7.5%) Occasional (29-5%) HP:0200008
38 pancreatic adenocarcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0006725
39 neoplasm of the thyroid gland 58 31 occasional (7.5%) Occasional (29-5%) HP:0100031
40 neuroblastoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0003006
41 basal cell carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0002671
42 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
43 neoplasm of the skeletal system 58 31 occasional (7.5%) Occasional (29-5%) HP:0010622
44 agnosia 58 31 occasional (7.5%) Occasional (29-5%) HP:0010524
45 cardiac diverticulum 58 31 occasional (7.5%) Occasional (29-5%) HP:0100571
46 neurological speech impairment 58 Occasional (29-5%)
47 behavioral abnormality 58 Frequent (79-30%)
48 visual impairment 58 Occasional (29-5%)
49 death in infancy 58 Frequent (79-30%)
50 death in early adulthood 58 Frequent (79-30%)

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

26 (show all 46)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.75 KRAS PIK3CA BRAF
2 Decreased viability GR00106-A-0 10.75 KRAS
3 Decreased viability GR00107-A-1 10.75 TGFBR2
4 Decreased viability GR00221-A-1 10.75 EXO1 KRAS PIK3CA PMS1 TGFBR2
5 Decreased viability GR00221-A-2 10.75 KRAS PIK3CA PMS1 BRCA1
6 Decreased viability GR00221-A-3 10.75 TGFBR2 BRCA1
7 Decreased viability GR00221-A-4 10.75 EXO1 PIK3CA TGFBR2 BRAF
8 Decreased viability GR00301-A 10.75 KRAS PMS1 BRAF BRCA1 MLH3 MSH2
9 Decreased viability GR00381-A-1 10.75 KRAS BRAF
10 Decreased viability GR00402-S-2 10.75 EXO1 KRAS PIK3CA PMS1 TGFBR2 BRAF
11 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.56 LRRFIP2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.56 BRAF
13 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.56 KRAS
14 Increased shRNA abundance (Z-score > 2) GR00366-A-133 10.56 APC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.56 LRRFIP2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.56 BRAF
17 Increased shRNA abundance (Z-score > 2) GR00366-A-157 10.56 PIK3CA
18 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.56 PIK3CA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-166 10.56 BRAF PIK3CA
20 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.56 KRAS
21 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.56 LRRFIP2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.56 APC BRAF KRAS LRRFIP2 PIK3CA
23 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.56 PIK3CA
24 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.56 LRRFIP2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-192 10.56 APC
26 Increased shRNA abundance (Z-score > 2) GR00366-A-194 10.56 BRAF
27 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.56 KRAS
28 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.56 APC
29 Increased shRNA abundance (Z-score > 2) GR00366-A-23 10.56 KRAS
30 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.56 APC BRAF
31 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.56 BRAF
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.56 BRAF
33 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.56 PIK3CA
34 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.56 BRAF
35 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.56 APC KRAS PIK3CA
36 Increased shRNA abundance (Z-score > 2) GR00366-A-50 10.56 KRAS
37 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.56 PIK3CA
38 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.56 KRAS LRRFIP2
39 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.56 APC
40 Increased shRNA abundance (Z-score > 2) GR00366-A-76 10.56 LRRFIP2
41 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.56 KRAS
42 Decreased viability in esophageal squamous lineage GR00235-A 10.02 APC BRAF BRCA1 BRCA2 EXO1 KRAS
43 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 10 BRAF BRCA1 BRCA2 EXO1 FAN1 MLH1
44 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.77 BRCA1 BRCA2 EXO1 FAN1 MLH1 TP53
45 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.77 BRAF BRCA1 BRCA2 EXO1 FAN1 MLH1
46 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:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.45 APC BRAF BRCA1 BRCA2 EPCAM EXO1
2 homeostasis/metabolism MP:0005376 10.39 APC BRAF BRCA1 BRCA2 EPCAM EXO1
3 hematopoietic system MP:0005397 10.3 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 10.29 APC BRAF BRCA1 BRCA2 EPCAM EXO1
6 immune system MP:0005387 10.28 APC BRAF BRCA1 BRCA2 EPCAM EXO1
7 mortality/aging MP:0010768 10.25 APC BRAF BRCA1 BRCA2 EPCAM EXO1
8 neoplasm MP:0002006 10.16 APC BRAF BRCA1 BRCA2 EXO1 KRAS
9 embryo MP:0005380 10.15 APC BRAF BRCA1 BRCA2 EPCAM KRAS
10 integument MP:0010771 10.15 APC BRAF BRCA1 BRCA2 KRAS MLH1
11 nervous system MP:0003631 9.9 APC BRAF BRCA1 BRCA2 EPCAM KRAS
12 pigmentation MP:0001186 9.43 APC BRAF BRCA1 KRAS TGFBR2 TP53
13 reproductive system MP:0005389 9.36 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 87)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
2
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 6857599 43805
3
leucovorin Approved Phase 3 58-05-9 6006 143
4
Levoleucovorin Approved, Investigational Phase 3 68538-85-2
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 Vitamins Phase 3
14 Immunoglobulins Phase 3
15 Antibodies Phase 3
16 Hormones Phase 3
17 Immunologic Factors Phase 3
18 Immunosuppressive Agents Phase 3
19 Trace Elements Phase 3
20 Antibodies, Monoclonal Phase 3
21 Endothelial Growth Factors Phase 3
22 Micronutrients Phase 3
23 Vitamin B Complex Phase 3
24 Angiogenesis Inhibitors Phase 3
25 Vitamin B9 Phase 3
26 Mitogens Phase 3
27 Folate Phase 3
28 Hematinics Phase 3
29 Immunoglobulin G Phase 3
30 Calcium, Dietary Phase 3
31 Protective Agents Phase 3
32 Antimetabolites Phase 3
33 Antidotes Phase 3
34 Nutrients Phase 3
35 Anti-Inflammatory Agents Phase 3
36 Fibrinolytic Agents Phase 3
37 Anti-Inflammatory Agents, Non-Steroidal Phase 3
38 Analgesics, Non-Narcotic Phase 3
39 Platelet Aggregation Inhibitors Phase 3
40 Antipyretics Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Antirheumatic Agents Phase 3
43 Analgesics Phase 3
44 Cola Phase 3
45 Contraceptives, Oral Phase 3
46 Contraceptive Agents Phase 3
47 Gastrointestinal Agents Phase 3
48 Antidiarrheals Phase 3
49
Norgestrel Approved Phase 2 6533-00-2 13109
50
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757

Interventional clinical trials:

(show top 50) (show all 114)
# 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 Efficacy of Adding Trastuzumab to Standard Chemotherapy in Patients With Advanced HER2-negative Gastric Cancer and HER2 Positive Expression in Circulating Tumor Cells Not yet recruiting NCT04168931 Phase 2 Trastuzumab
16 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
17 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome - MesaCAPP Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
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 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
20 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
21 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
22 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
23 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Risk Calculation and Risk Communication Unknown status NCT00929097
24 Cost Effectiveness of Two Different Implementation Procedures to Change Clinicians Practice Roles in the Detection of Hereditary Colorectal Cancer Unknown status NCT00141466
25 Personalized Prostate Cancer Screening Among Men With High Risk Genetic Predisposition- a Prospective Cohort Study Unknown status NCT02053805
26 The 'SILVERMAN1' Trial Single Incision Laparoscopic Versus Existing Resection (Minimal Access) for Neoplasia Unknown status NCT01319890
27 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
28 Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study Unknown status NCT03365986
29 Familial Cancer Registry and DNA Bank Unknown status NCT02083224
30 Prognostic Impact of Immunohistochemical and Molecular Expression of the Endocytosis Receptor LRP1 in Colonic Adenocarcinomas Unknown status NCT02788669
31 Prospective Study for Evaluating Colon Polyp Histology With in Vivo Probe Based Confocal Laser Endomicroscopy Unknown status NCT01214031
32 Capsule Endoscopy in Lynch Syndrome for Small Intestinal Tumor Screening Completed NCT00898768 Early Phase 1
33 Vanderbilt Hereditary Colorectal Cancer Registry Completed NCT00675636
34 Chromoendoscopy in Lynch Syndrome Patients Completed NCT00905710
35 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
36 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
37 Facilitating Informed Decisions for MSI Testing Completed NCT00450424
38 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
39 Psychosocial Aspects of Genetic Testing for HNPCC Completed NCT00341575
40 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
41 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
42 Screening for Gynecologic Cancers Among Women With Hereditary Non-Polyposis Colon Cancer (HNPCC) Completed NCT00508846
43 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
44 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
45 Outcomes in Education and Counseling for HNPCC Testing Completed NCT00004210
46 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
47 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
48 Comparison of Colonoscopy With Virtual Chromoendoscopy Using 3rd Generation NBI System to Chromoendoscopy With Indigo Carmine in Lynch Patients. Completed NCT02570516
49 High Definition White-Light Colonoscopy Versus Chromoendoscopy for Surveillance of Lynch Syndrome. A Prospective, Multicenter and Randomized Study Completed NCT02951390
50 A Pilot Study for Combined Colon and Endometrial Cancer Screening in Women at High-Risk for Colon and Endometrial Cancer Completed NCT00510796

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:

40
Colon, Testes, Breast, Skin, Brain, Small Intestine, Ovary

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

(show top 50) (show all 4242)
# 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. 54 61 24 6
19098912 2009
2
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 54 61 24 6
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. 61 24 6
25070057 2014
4
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 61 24 6
24310308 2014
5
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 61 24 6
23408351 2013
6
Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC). 61 24 6
15942939 2005
7
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 61 24 6
9354786 1997
8
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 54 61 6
19419416 2009
9
HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 24 6
9590282 1998
10
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 61 6
25711197 2015
11
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 61 6
25318681 2015
12
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 61 6
25645574 2015
13
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. 61 6
25452455 2015
14
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 61 6
25003300 2014
15
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. 61 6
23170986 2013
16
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 61 6
23709753 2013
17
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 61 6
23535968 2013
18
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. 61 6
22781090 2013
19
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. 61 6
22167527 2012
20
Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. 61 6
21953887 2012
21
A novel exonic rearrangement affecting MLH1 and the contiguous LRRFIP2 is a founder mutation in Portuguese Lynch syndrome families. 61 6
21785361 2011
22
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families. 61 6
20858721 2010
23
Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. 61 6
20533529 2010
24
Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. 54 61 24
19949877 2010
25
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 54 61 24
20205264 2010
26
Risk and epidemiological time trends of gastric cancer in Lynch syndrome carriers in the Netherlands. 54 61 24
19900449 2010
27
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. 54 61 24
19455606 2009
28
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. 61 6
19156873 2009
29
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. 61 6
18781192 2009
30
Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome. 54 61 24
19728162 2009
31
The G67E mutation in hMLH1 is associated with an unusual presentation of Lynch syndrome. 61 6
19142183 2009
32
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 54 61 24
18709565 2008
33
The first functional study of MLH3 mutations found in cancer patients. 61 6
18521850 2008
34
Further evidence for heritability of an epimutation in one of 12 cases with MLH1 promoter methylation in blood cells clinically displaying HNPCC. 61 6
18301449 2008
35
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 61 6
18178629 2008
36
The frequency of Muir-Torre syndrome among Lynch syndrome families. 54 61 24
18270343 2008
37
Biallelic germline mutations of mismatch-repair genes: a possible cause for multiple pediatric malignancies. 61 6
17440981 2007
38
Inheritance of a cancer-associated MLH1 germ-line epimutation. 61 6
17301300 2007
39
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. 61 6
16951683 2006
40
Value of MLH1 and MSH2 mutations in the appearance of Muir-Torre syndrome phenotype in HNPCC patients presenting sebaceous gland tumors or keratoacanthomas. 54 61 24
16826164 2006
41
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 61 6
16341550 2006
42
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 61 6
15887124 2005
43
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 61 6
15571801 2004
44
HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. 61 6
15139004 2004
45
Germline epimutation of MLH1 in individuals with multiple cancers. 61 6
15064764 2004
46
MSH2 c.1452-1455delAATG is a founder mutation and an important cause of hereditary nonpolyposis colorectal cancer in the southern Chinese population. 61 6
15042510 2004
47
Lynch Syndrome 61 6
20301390 2004
48
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. 61 6
14871915 2004
49
Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA. 61 6
14635101 2003
50
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. 61 6
12658575 2003

Variations for Lynch Syndrome

ClinVar genetic disease variations for Lynch Syndrome:

6 (show top 50) (show all 7334) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSH6 NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs)deletion Pathogenic 156507 rs587783056 2:48026824-48026825 2:47799685-47799686
2 EPCAM NM_002354.2(EPCAM):c.556-14A>GSNV Pathogenic 157603 rs376155665 2:47606078-47606078 2:47378939-47378939
3 MSH6 NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter)SNV Pathogenic 182659 rs730881816 2:48026927-48026927 2:47799788-47799788
4 MSH6 NM_000179.2(MSH6):c.1842del (p.Cys615fs)deletion Pathogenic 182678 rs730881825 2:48026963-48026963 2:47799824-47799824
5 MSH6 NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs)deletion Pathogenic 182680 rs730881827 2:48027954-48027955 2:47800815-47800816
6 MSH6 NM_000179.2(MSH6):c.3690del (p.Val1231fs)deletion Pathogenic 182682 rs730881829 2:48033386-48033386 2:47806247-47806247
7 MLH1 NM_000249.3(MLH1):c.209_215delAAGAAGAdeletion Pathogenic 182513 rs730881734 3:37042444-37042450 3:37000953-37000959
8 MLH1 NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter)SNV Pathogenic 182529 rs41542214 3:37090470-37090470 3:37048979-37048979
9 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys)SNV Pathogenic 182809 rs587780059 7:6048649-6048649 7:6009018-6009018
10 MSH2 NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter)SNV Pathogenic 183761 rs786201066 2:47672761-47672761 2:47445622-47445622
11 MSH6 NM_000179.2(MSH6):c.578del (p.Leu193fs)deletion Pathogenic 183724 rs587782281 2:48023152-48023152 2:47796013-47796013
12 MSH6 NM_001281492.1(MSH6):c.1689dup (p.Cys564fs)duplication Pathogenic 187516 rs267608083 2:48027195-48027196 2:47800056-47800057
13 MSH6 NM_000179.2(MSH6):c.2906_2907del (p.Tyr969fs)deletion Pathogenic 187691 rs786203924 2:48028027-48028028 2:47800888-47800889
14 MSH6 NM_000179.2(MSH6):c.989C>A (p.Ser330Ter)SNV Pathogenic 186304 rs786202848 2:48026111-48026111 2:47798972-47798972
15 MSH6 NM_001281492.1(MSH6):c.3172_3175dup (p.Thr1059fs)duplication Pathogenic 186929 rs786203331 2:48032760-48032761 2:47805621-47805622
16 MSH6 NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs)insertion Pathogenic 183794 rs786201084 2:48033439-48033440 2:47806300-47806301
17 MSH6 NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs)duplication Pathogenic 184998 rs1553333738 2:48033767-48033768 2:47806628-47806629
18 PMS2 NM_000535.7(PMS2):c.2156del (p.Gln719fs)deletion Pathogenic 183755 rs786201062 7:6022473-6022473 7:5982842-5982842
19 PMS2 NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)deletion Pathogenic 186596 rs786203073 7:6026522-6026522 7:5986891-5986891
20 PMS2 NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs)short repeat Pathogenic 183860 rs267608154 7:6035204-6035211 7:5995573-5995580
21 PMS2 NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)SNV Pathogenic 183732 rs786201047 7:6035259-6035259 7:5995628-5995628
22 PMS2 NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)SNV Pathogenic 183716 rs573125799 7:6036995-6036995 7:5997364-5997364
23 EPCAM NM_002354.2(EPCAM):c.859-?_*415deldeletion Pathogenic 188070 2:47612305-47614167 2:47385166-47387028
24 PMS2 NM_000535.7(PMS2):c.1185del (p.Met396fs)deletion Pathogenic 188149 rs786204104 7:6027211-6027211 7:5987580-5987580
25 MSH2 NM_000251.2(MSH2):c.264dup (p.Val89fs)duplication Pathogenic 188399 rs267607920 2:47635588-47635589 2:47408449-47408450
26 MSH2 NM_000251.2(MSH2):c.1442T>A (p.Leu481Ter)SNV Pathogenic 188274 rs786203036 2:47690225-47690225 2:47463086-47463086
27 MSH2 NM_000251.2(MSH2):c.2283del (p.Gly761_Leu762insTer)deletion Pathogenic 188073 rs786204050 2:47705481-47705481 2:47478342-47478342
28 MSH6 NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs)deletion Pathogenic 188393 rs786204252 2:48026229-48026230 2:47799090-47799091
29 MSH2 NM_000251.2(MSH2):c.782_783insA (p.Met261fs)insertion Pathogenic 188205 rs786204144 2:47639689-47639690 2:47412550-47412551
30 MSH2 NM_000251.2(MSH2):c.475dup (p.Arg159fs)duplication Pathogenic 188513 rs786204319 2:47637341-47637341 2:47410201-47410202
31 MSH2 NM_001258281.1(MSH2):c.1080_1188+1deldeletion Pathogenic 188515 rs1553361141 2:47672685-47672794 2:47445546-47445655
32 MSH2 NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter)SNV Pathogenic 188516 rs786204321 2:47702388-47702388 2:47475249-47475249
33 MSH2 NM_000251.2(MSH2):c.(?_-1)_1076+?deldeletion Pathogenic 216051 2:47630330-47643568 2:47403191-47416429
34 MSH2 NM_000251.2(MSH2):c.1662-?_*(1_?)deldeletion Pathogenic 216053 2:47698104-47710089 2:47470965-47482950
35 MSH6 NM_000179.2(MSH6):c.(?_-1)_457+?deldeletion Pathogenic 216041 2:48010372-48018262 2:47783233-47791123
36 MSH2 NM_000251.2(MSH2):c.912dup (p.Ala305fs)duplication Pathogenic 216863 rs863224833 2:47641525-47641526 2:47414386-47414387
37 MSH2 NM_001258281.1(MSH2):c.-30-28_-30-15deldeletion Pathogenic 216052 rs863224481 2:47630471-47630484 2:47403332-47403345
38 MSH6 NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter)SNV Pathogenic 216042 rs863224473 2:48026167-48026167 2:47799028-47799028
39 MSH6 NM_000179.2(MSH6):c.2089del (p.Asp697fs)deletion Pathogenic 216044 rs863224475 2:48027211-48027211 2:47800072-47800072
40 MSH6 NM_000179.2(MSH6):c.1746dup (p.Arg583Ter)duplication Pathogenic 216043 rs863224474 2:48026865-48026866 2:47799726-47799727
41 MSH6 NM_000179.2(MSH6):c.3435del (p.Arg1145fs)deletion Pathogenic 216045 rs863224476 2:48030821-48030821 2:47803682-47803682
42 MLH1 NM_001167618.2(MLH1):c.-18_2del (p.Met1fs)deletion Pathogenic 216050 rs863224480 3:37055949-37055968 3:37014458-37014477
43 MLH1 NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter)SNV Pathogenic 216048 rs63750549 3:37090023-37090023 3:37048532-37048532
44 PMS2 NM_000535.6(PMS2):c.989-?_1144+?deldeletion Pathogenic 216076 7:6029431-6029586 7:5989800-5989955
45 PMS2 NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)deletion Pathogenic 216075 rs863224498 7:6026757-6026758 7:5987126-5987127
46 PMS2 NM_000535.7(PMS2):c.1576del (p.Asp526fs)deletion Pathogenic 216074 rs863224497 7:6026820-6026820 7:5987189-5987189
47 PMS2 NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)SNV Pathogenic 216073 rs863224496 7:6027099-6027099 7:5987468-5987468
48 PMS2 NM_000535.7(PMS2):c.1239dup (p.Asp414fs)duplication Pathogenic 216072 rs267608159 7:6027156-6027157 7:5987525-5987526
49 MSH2 NM_000251.2(MSH2):c.2236dup (p.Ile746fs)duplication Pathogenic 218042 rs863225392 2:47705434-47705435 2:47478295-47478296
50 MSH2 NM_000251.2(MSH2):c.2297del (p.Ile766fs)deletion Pathogenic 218044 rs863225394 2:47705497-47705497 2:47478358-47478358

Copy number variations for Lynch Syndrome from CNVD:

7 (show all 14)
# CNVD ID Chromosome 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 rearrangement 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 rearrangement 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 rearrangement 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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
2
Show member pathways
12.93 TP53 PMS2 MSH2 MLH1 EXO1 BRCA1
3
Show member pathways
12.92 TP53 MSH6 MSH3 MSH2 MLH1 KRAS
4
Show member pathways
12.74 TP53 TGFBR2 PIK3CA MSH6 MSH3 MSH2
5
Show member pathways
12.72 TP53 TGFBR2 PIK3CA MLH1 KRAS BRCA2
6
Show member pathways
12.67 TP53 PIK3CA KRAS BRAF APC
7
Show member pathways
12.66 TP53 MSH6 MSH3 MSH2 BRCA2 BRCA1
8
Show member pathways
12.66 TP53 PIK3CA MSH6 KRAS BRCA2 BRCA1
9 12.62 TP53 TGFBR2 PIK3CA MSH6 MSH3 MSH2
10 12.51 TP53 PIK3CA KRAS BRCA1 APC
11
Show member pathways
12.47 TP53 PIK3CA KRAS BRAF
12
Show member pathways
12.47 TP53 PIK3CA KRAS BRAF APC
13 12.47 TP53 MUTYH MSH6 MSH2 MLH1 BRCA2
14
Show member pathways
12.4 TP53 TGFBR2 PIK3CA KRAS
15
Show member pathways
12.36 PIK3CA KRAS BRCA1 BRAF
16 12.3 TP53 TGFBR2 PIK3CA KRAS
17 12.26 TP53 PIK3CA KRAS BRAF
18
Show member pathways
12.17 TP53 TGFBR2 PIK3CA KRAS BRAF
19 12.16 TP53 TGFBR2 MSH6 MSH2 KRAS BRCA2
20 12.14 TP53 TGFBR2 PIK3CA KRAS
21 12.08 TP53 PMS2 MSH2 MLH1 APC
22
Show member pathways
12.06 TGFBR2 PIK3CA KRAS BRAF
23 11.97 TP53 PIK3CA KRAS APC
24 11.94 TP53 KRAS BRAF APC
25 11.88 PMS2 MLH1 FAN1 BRCA2 BRCA1
26
Show member pathways
11.79 TP53 MSH6 MSH2 BRCA2 BRCA1
27
Show member pathways
11.77 PIK3CA KRAS BRAF
28 11.73 TP53 PIK3CA MSH6 MSH3 MSH2 MLH1
29 11.71 TP53 KRAS BRAF
30 11.67 TP53 PIK3CA KRAS
31 11.65 TP53 PIK3CA BRCA1
32 11.55 TP53 PIK3CA APC
33
Show member pathways
11.54 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
34 11.51 TP53 MSH6 MSH2 BRCA1
35 11.49 TP53 TGFBR2 MSH6 MSH3 MSH2 MLH1
36
Show member pathways
11.41 TP53 MSH2 MLH1
37 11.26 PMS2 MSH6 MSH2 MLH1
38 11.25 TGFBR2 KRAS APC
39 11.19 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 nucleus GO:0005634 10.31 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
2 nucleoplasm GO:0005654 9.97 TP53 PMS2 MUTYH MSH6 MSH3 MSH2
3 condensed nuclear chromosome GO:0000794 9.58 MLH3 MLH1 BRCA1
4 lateral element GO:0000800 9.46 BRCA2 BRCA1
5 MutSalpha complex GO:0032301 9.37 MSH6 MSH2
6 MutSbeta complex GO:0032302 9.32 MSH3 MSH2
7 chiasma GO:0005712 9.26 MLH3 MLH1
8 mismatch repair complex GO:0032300 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3
9 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 MLH1

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

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 regulation of cell proliferation GO:0042127 9.92 TP53 TGFBR2 BRCA1 BRAF
2 negative regulation of neuron apoptotic process GO:0043524 9.9 PIK3CA MSH2 KRAS BRAF
3 DNA recombination GO:0006310 9.86 MSH2 EXO1 BRCA2 BRCA1
4 double-strand break repair via homologous recombination GO:0000724 9.81 FAN1 BRCA2 BRCA1
5 mismatch repair GO:0006298 9.81 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
6 double-strand break repair GO:0006302 9.8 TP53 MSH2 BRCA2 BRCA1
7 nucleotide-excision repair GO:0006289 9.78 TP53 FAN1 BRCA2
8 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.77 MSH6 MSH2 MLH1 BRCA2 BRCA1
9 reciprocal meiotic recombination GO:0007131 9.75 MSH3 MLH3 MLH1
10 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.74 TP53 MSH2 BRCA2
11 DNA repair GO:0006281 9.73 PMS2 PMS1 MUTYH MSH6 MSH3 MSH2
12 response to X-ray GO:0010165 9.71 TP53 MSH2 BRCA2
13 isotype switching GO:0045190 9.71 MSH6 MSH2 MLH1 EXO1
14 determination of adult lifespan GO:0008340 9.7 TP53 MSH6 MSH2
15 negative regulation of DNA recombination GO:0045910 9.69 MSH6 MSH3 MSH2
16 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.65 TP53 BRCA2 BRCA1
17 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 PMS2 MSH6 MSH2 MLH1 EXO1
18 postreplication repair GO:0006301 9.64 MSH2 BRCA1
19 response to UV-B GO:0010224 9.63 TP53 MSH2
20 positive regulation of helicase activity GO:0051096 9.63 MSH6 MSH3 MSH2
21 positive regulation of isotype switching to IgG isotypes GO:0048304 9.62 MSH2 MLH1
22 somatic recombination of immunoglobulin gene segments GO:0016447 9.62 MSH6 MSH3 MSH2 MLH1
23 positive regulation of isotype switching to IgA isotypes GO:0048298 9.61 MSH2 MLH1
24 maintenance of DNA repeat elements GO:0043570 9.61 MSH6 MSH3 MSH2
25 chordate embryonic development GO:0043009 9.59 BRCA2 BRCA1
26 meiotic mismatch repair GO:0000710 9.58 MSH6 MSH3
27 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.55 MSH2 MLH1
28 cellular response to DNA damage stimulus GO:0006974 9.47 TP53 PMS2 PMS1 MUTYH MSH6 MSH3

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.49 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
2 DNA binding GO:0003677 10.24 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
3 ATP binding GO:0005524 10.06 TP53 TGFBR2 PMS2 PMS1 PIK3CA MSH6
4 chromatin binding GO:0003682 10 TP53 MSH6 MSH2 MLH3 MLH1 EXO1
5 ATPase activity GO:0016887 9.95 PMS2 PMS1 MSH6 MSH2 MLH3 MLH1
6 enzyme binding GO:0019899 9.91 TP53 PMS1 MSH6 MSH3 MSH2 MLH1
7 single-stranded DNA binding GO:0003697 9.8 PMS2 MSH3 MSH2 MLH1 BRCA2
8 endonuclease activity GO:0004519 9.79 PMS2 FAN1 EXO1
9 damaged DNA binding GO:0003684 9.77 MSH6 MSH2 BRCA1
10 DNA-dependent ATPase activity GO:0008094 9.74 MSH6 MSH3 MSH2
11 MutSalpha complex binding GO:0032407 9.63 PMS2 MUTYH MLH1
12 5'-3' exonuclease activity GO:0008409 9.61 FAN1 EXO1
13 MutLalpha complex binding GO:0032405 9.61 MUTYH MSH6 MSH2
14 5'-flap endonuclease activity GO:0017108 9.6 FAN1 EXO1
15 LRR domain binding GO:0030275 9.58 LRRFIP2 KRAS
16 centromeric DNA binding GO:0019237 9.58 MSH2 MLH3
17 dinucleotide insertion or deletion binding GO:0032139 9.56 MSH3 MSH2
18 dinucleotide repeat insertion binding GO:0032181 9.55 MSH3 MSH2
19 single thymine insertion binding GO:0032143 9.54 MSH6 MSH2
20 oxidized purine DNA binding GO:0032357 9.46 MUTYH MSH6 MSH3 MSH2
21 single guanine insertion binding GO:0032142 9.43 MSH6 MSH3 MSH2
22 guanine/thymine mispair binding GO:0032137 9.26 MSH6 MSH3 MSH2 MLH1
23 mismatched DNA binding GO:0030983 9.17 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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