HNPCC
MCID: LYN001
MIFTS: 77

Lynch Syndrome (HNPCC)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Lynch Syndrome

MalaCards integrated aliases for Lynch Syndrome:

Name: Lynch Syndrome 11 24 19 42 58 75 28 53 5 14 75
Hereditary Nonpolyposis Colorectal Cancer 11 42 58 71 75
Hereditary Nonpolyposis Colon Cancer 11 58 28 53 5
Hereditary Nonpolyposis Colorectal Carcinoma 28 5 16 71
Hereditary Nonpolyposis Colorectal Neoplasms 42 5 71
Familial Nonpolyposis Colon Cancer 42 58
Hnpcc 42 58
Hereditary Non-Polyposis Colorectal Cancer Syndrome 11
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 71
Hereditary Nonpolyposis Colorectal Cancer Syndrome 11
Hereditary Non-Polyposis Colon Cancer Syndrome 11
Hereditary Defective Mismatch Repair Syndrome 11
Hereditary Nonpolyposis Colon Cancer Syndrome 11
Colorectal Neoplasms, Hereditary Nonpolyposis 43
Hnpcc - Hereditary Nonpolyposis Colon Cancer 11
Cancer, Colorectal, Nonpolyposis, Hereditary 38
Hereditary Nonpolyposis Colorectal Neoplasm 11
Hereditary Non-Polyposis Colorectal Cancer 11
Familial Nonpolyposis Colorectal Cancer 58
Hereditary Non-Polyposis Colon Cancer 11
Colon Cancer, Familial Nonpolyposis 75
Cancer Family Syndrome 42
Coca 1 11

Characteristics:


Inheritance:

Autosomal dominant 58

Age Of Onset:

Adult 58

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

MedlinePlus Genetics: 42 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, urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (endometrial cancer). Women with Lynch syndrome have a higher overall risk of developing cancer than men with the condition because of these cancers of the female reproductive system. In individuals with Lynch syndrome who develop cancer, the cancer typically occurs in their forties or fifties.People with Lynch syndrome may occasionally have noncancerous (benign) growths in the colon, called colon polyps. In individuals with this disorder, colon polyps occur at a younger age but not in greater numbers than they do in the general population.

MalaCards based summary: Lynch Syndrome, also known as hereditary nonpolyposis colorectal cancer, is related to lynch syndrome 1 and lynch syndrome 5. An important gene associated with Lynch Syndrome is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are Disease and Prolactin Signaling. The drugs Pancrelipase and Atezolizumab have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and ovary, and related phenotypes are constipation and malabsorption

Orphanet 58 Lynch syndrome: A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.

Hereditary nonpolyposis colon cancer: A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.

Disease Ontology: 11 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.

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 1 Lynch Syndrome 2
Lynch Syndrome 8 Lynch Syndrome 4
Lynch Syndrome 5

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

(show top 50) (show all 554)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 1 33.9 PMS2 PMS1 MSH6 MSH3 MSH2 MLH1
2 lynch syndrome 5 33.3 PMS2 MSH6 MSH2 MLH1 BRAF APC
3 ovarian cancer 33.2 TP53 TGFBR2 PMS2 PMS1 PIK3CA MUTYH
4 lynch syndrome 2 33.1 MLH1 BRCA2 BRCA1
5 mismatch repair cancer syndrome 1 33.1 PMS2 PMS1 MSH6 MSH2 MLH1 APC
6 lynch syndrome 4 33.1 PMS2 PMS1 MLH1
7 muir-torre syndrome 33.0 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
8 hereditary site-specific ovarian cancer syndrome 32.9 BRCA2 BRCA1
9 rectosigmoid junction neoplasm 32.9 MLH1 KRAS
10 endometrial cancer 32.8 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
11 gastric cancer 32.8 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
12 bap1 tumor predisposition syndrome 32.7 TP53 POLE PMS2 MUTYH MSH6 MSH3
13 inherited cancer-predisposing syndrome 32.7 TP53 POLE PMS2 MUTYH MSH6 MSH3
14 colorectal cancer 32.7 TP53 TGFBR2 POLE PMS2 PMS1 PIK3CA
15 colorectal cancer, hereditary nonpolyposis, type 6 32.5 TGFBR2 PMS2 PMS1 MUTYH MSH6 MSH2
16 mismatch repair cancer syndrome 32.3 TP53 POLE PMS2 PMS1 PIK3CA MUTYH
17 adenoma 32.3 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
18 colonic benign neoplasm 32.3 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
19 colorectal cancer, hereditary nonpolyposis, type 7 32.2 PMS1 MLH3
20 adenocarcinoma 32.1 TP53 TGFBR2 PIK3CA MSH6 MSH2 MLH1
21 hereditary breast ovarian cancer syndrome 32.0 TP53 POLE PMS2 PMS1 PIK3CA MUTYH
22 familial adenomatous polyposis 31.9 TP53 PMS2 PMS1 MUTYH MSH6 MSH3
23 colorectal adenoma 31.9 TP53 POLE PMS2 MUTYH MSH6 MSH2
24 familial colorectal cancer 31.9 TP53 TGFBR2 MUTYH MSH2 MLH1
25 small intestine cancer 31.9 TP53 PMS2 PIK3CA MUTYH MSH6 MSH3
26 rectum cancer 31.7 TP53 MUTYH MSH6 MSH2 MLH1 KRAS
27 rectal benign neoplasm 31.7 TP53 PMS2 PIK3CA MSH6 MSH2 MLH1
28 breast cancer 31.7 TP53 TGFBR2 POLE PMS2 PIK3CA MUTYH
29 brain cancer 31.6 TP53 PMS2 PIK3CA MSH6 MSH2 BRAF
30 colorectal adenocarcinoma 31.6 TP53 PMS2 PIK3CA MSH6 MSH2 MLH1
31 pancreatic cancer 31.6 TP53 TGFBR2 PIK3CA MSH6 MSH2 MLH1
32 adrenal cortical carcinoma 31.5 TP53 PMS2 PIK3CA MSH6 MSH2 MLH1
33 small intestine adenocarcinoma 31.5 TP53 PMS2 MSH6 MSH2 MLH1 KRAS
34 bladder cancer 31.5 TP53 PIK3CA MSH3 MSH2 MLH1 KRAS
35 serous cystadenocarcinoma 31.5 TP53 POLE PMS2 PIK3CA MSH6 MSH2
36 mucinous adenocarcinoma 31.5 TP53 PMS2 PIK3CA MSH6 MSH2 MLH1
37 familial adenomatous polyposis 2 31.5 POLE PMS2 MUTYH MSH6 MSH3 MSH2
38 squamous cell carcinoma 31.5 TP53 TGFBR2 PIK3CA KRAS EPCAM BRAF
39 prostate cancer 31.4 TP53 TGFBR2 PMS2 PIK3CA MSH6 MSH2
40 colon adenocarcinoma 31.4 TP53 PIK3CA MSH6 MLH1 KRAS BRAF
41 endometrial adenocarcinoma 31.4 TP53 POLE PMS2 MSH6 MSH2 MLH1
42 skin benign neoplasm 31.4 TP53 MSH6 MSH2 MLH1 BRAF
43 appendix adenocarcinoma 31.4 TP53 MSH6 KRAS
44 skin squamous cell carcinoma 31.4 TP53 PMS2 MSH6 MSH2 MLH1 BRAF
45 endometrial hyperplasia 31.4 TP53 MSH6 MSH2 MLH1 KRAS
46 ascending colon cancer 31.4 PMS2 MSH6 MSH2 MLH1 KRAS
47 duodenum cancer 31.4 TP53 PMS2 MUTYH MSH6 MSH2 MLH1
48 glioblastoma 31.3 TP53 POLE PMS2 PIK3CA MSH6 MSH2
49 gastric adenocarcinoma 31.3 TP53 POLE PIK3CA MLH1 KRAS EPCAM
50 familial ovarian cancer 31.3 TP53 POLE

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

25 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.37 BRCA1 BRCA2 MLH1 POLE
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.37 BRAF BRCA1 BRCA2 FANCM MLH1 POLE
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.37 BRCA1 BRCA2 FAN1 MLH1 TP53 MLH3
4 Decreased viability GR00055-A-1 10.22 BRAF KRAS
5 Decreased viability GR00055-A-2 10.22 BRAF KRAS
6 Decreased viability GR00055-A-3 10.22 KRAS
7 Decreased viability GR00106-A-0 10.22 KRAS
8 Decreased viability GR00221-A-1 10.22 KRAS PMS1
9 Decreased viability GR00221-A-2 10.22 BRCA1 KRAS PMS1
10 Decreased viability GR00221-A-3 10.22 BRCA1
11 Decreased viability GR00221-A-4 10.22 BRAF
12 Decreased viability GR00249-S 10.22 BRAF
13 Decreased viability GR00301-A 10.22 BRAF BRCA1 KRAS MLH3 MSH2 PMS1
14 Decreased viability GR00381-A-1 10.22 BRAF KRAS
15 Decreased viability GR00386-A-1 10.22 PMS1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-1 9.78 POLE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.78 MSH2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.78 KRAS
19 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.78 POLE
20 Increased shRNA abundance (Z-score > 2) GR00366-A-14 9.78 MSH2 PMS2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.78 MSH2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-157 9.78 EPCAM
23 Increased shRNA abundance (Z-score > 2) GR00366-A-168 9.78 EPCAM POLE
24 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.78 MSH2
25 Increased shRNA abundance (Z-score > 2) GR00366-A-19 9.78 PMS2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-197 9.78 PMS2
27 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.78 POLE
28 Increased shRNA abundance (Z-score > 2) GR00366-A-207 9.78 PMS2 POLE
29 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.78 MSH2
30 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.78 KRAS
31 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.78 EPCAM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.78 POLE
33 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.78 PMS2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.78 MSH2
35 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.78 EPCAM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 KRAS POLE
37 Increased shRNA abundance (Z-score > 2) GR00366-A-79 9.78 EPCAM
38 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.78 POLE
39 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.78 POLE
40 Increased shRNA abundance (Z-score > 2) GR00366-A-91 9.78 POLE
41 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.73 APC BRAF BRCA1 BRCA2 MSH2 TGFBR2

MGI Mouse Phenotypes related to Lynch Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 10.47 APC BRAF BRCA1 BRCA2 FANCM KRAS
2 homeostasis/metabolism MP:0005376 10.4 APC BRAF BRCA1 BRCA2 EPCAM FAN1
3 cellular MP:0005384 10.3 APC BRAF BRCA1 BRCA2 EPCAM FAN1
4 growth/size/body region MP:0005378 10.29 APC BRAF BRCA1 BRCA2 EPCAM FAN1
5 endocrine/exocrine gland MP:0005379 10.27 APC BRAF BRCA1 BRCA2 EPCAM FANCM
6 digestive/alimentary MP:0005381 10.22 APC BRAF BRCA1 BRCA2 EPCAM KRAS
7 immune system MP:0005387 10.2 APC BRAF BRCA1 BRCA2 EPCAM FAN1
8 renal/urinary system MP:0005367 10.13 APC BRAF BRCA1 FAN1 KRAS MSH3
9 liver/biliary system MP:0005370 10.11 APC BRAF FAN1 FANCM KRAS PMS2
10 embryo MP:0005380 10.09 APC BRAF BRCA1 BRCA2 EPCAM KRAS
11 hematopoietic system MP:0005397 10.03 APC BRAF BRCA1 BRCA2 EPCAM FAN1
12 pigmentation MP:0001186 10.02 APC BRAF BRCA1 KRAS TGFBR2 TP53
13 reproductive system MP:0005389 10 APC BRAF BRCA1 BRCA2 FANCM KRAS
14 mortality/aging MP:0010768 9.91 APC BRAF BRCA1 BRCA2 EPCAM FAN1
15 integument MP:0010771 9.44 APC BRAF BRCA1 BRCA2 KRAS MLH1

Drugs & Therapeutics for Lynch Syndrome

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

(show top 50) (show all 85)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved, Investigational Phase 3 53608-75-6 8519
2
Atezolizumab Approved, Investigational Phase 3 1380723-44-3
3
Levoleucovorin Approved, Experimental, Investigational Phase 3 68538-85-2, 58-05-9, 73951-54-9 149436 6006
4
Bevacizumab Approved, Investigational Phase 3 216974-75-3 135329020
5
Fluorouracil Approved Phase 3 51-21-8 3385
6
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 43805 11947679 6857599
7
Acetylsalicylic acid Approved, Vet_approved Phase 3 50-78-2 2244
8
Levonorgestrel Approved, Investigational Phase 3 797-63-7 13109
9
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
10 Immunoglobulins Phase 3
11 Antibodies Phase 3
12 Acetylsalicylic acid lysinate Phase 3
13 Hormone Antagonists Phase 3
14 Pancreatin Phase 3
15 Gastrointestinal Agents Phase 3
16
Secretin Phase 3 71306891
17 Antibodies, Monoclonal Phase 3
18 Antimetabolites Phase 3
19 Immunologic Factors Phase 3
20 Hormones Phase 3
21 Immunoglobulins, Intravenous Phase 3
22 Vitamins Phase 3
23 Folate Phase 3
24 Vitamin B9 Phase 3
25 Trace Elements Phase 3
26 Immunoglobulin G Phase 3
27 Angiogenesis Inhibitors Phase 3
28 Vitamin B Complex Phase 3
29 Antidotes Phase 3
30 Calcium, Dietary Phase 3
31 Immunosuppressive Agents Phase 3
32 Hematinics Phase 3
33 Micronutrients Phase 3
34 Protective Agents Phase 3
35 Endothelial Growth Factors Phase 3
36 Mitogens Phase 3
37 Analgesics Phase 3
38 Antirheumatic Agents Phase 3
39 Fibrinolytic Agents Phase 3
40 Antipyretics Phase 3
41 Cyclooxygenase Inhibitors Phase 3
42 Platelet Aggregation Inhibitors Phase 3
43 Anti-Inflammatory Agents, Non-Steroidal Phase 3
44 Analgesics, Non-Narcotic Phase 3
45 Anti-Inflammatory Agents Phase 3
46 Cola Phase 3
47 Contraceptives, Oral Phase 3
48 Contraceptive Agents Phase 3
49
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951
50
Calcium Nutraceutical Phase 3 7440-70-2 271

Interventional clinical trials:

(show top 50) (show all 95)
# Name Status NCT ID Phase Drugs
1 PD-1 Antibody for the Prevention of Adenomatous Polyps and Second Primary Tumors in Patients With Lynch Syndrome: An Open-label, Multicenter, Randomized Controlled Clinical Trial Recruiting NCT04711434 Phase 3 PD-1 Antibody
2 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)
3 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Phase 3 Secretin
4 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
5 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
6 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
7 Prevention of Endometrial Tumors (POET) Terminated NCT00566644 Phase 3
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 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Recruiting NCT04920149 Phase 2 Mesalamine;Placebo
11 A Phase Ib/II Clinical Trial of Nous-209 for Recurrent Neoantigen Immunogenicity and Cancer Immune Interception in Lynch Syndrome Recruiting NCT05078866 Phase 1, Phase 2
12 PD-1 Antibody as a Sequential Therapy Following Preoperative Chemoradiotherapy for Locally Advanced pMMR/MSS Rectal Cancer: an Open, Multi-center, Phase II Clinical Trial Recruiting NCT04833387 Phase 2 PD-1 antibody
13 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
14 Omega 3 Fatty Acids in Colorectal Cancer (CRC) Prevention in Patients With Lynch Syndrome (COLYNE) Active, not recruiting NCT03831698 Phase 2 Omega-3 fatty acid ethyl esters (2 gram)
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 Active, not recruiting NCT03631641 Phase 2
16 A Phase IIa Randomized, Double-Blinded Clinical Trial of Naproxen or Aspirin for Cancer Immune Interception in Lynch Syndrome Not yet recruiting NCT05411718 Phase 2 Naproxen;Aspirin
17 A Phase IIB Clinical Trial of the Multitargeted Recombinant Adenovirus 5 (CEA/MUC1/Brachyury) Vaccine (TRI-AD5) and IL-15 Superagonist N-803 in Lynch Syndrome Not yet recruiting NCT05419011 Phase 2 Nogapendekin Alfa;Placebo Administration
18 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome - MesaCAPP Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
19 A Phase Ib Biomarker Trial of Naproxen in Patients at Risk for DNA Mismatch Repair Deficient Colorectal Cancer Completed NCT02052908 Phase 1 Naproxen
20 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)
21 A Safety and Preliminary Efficacy Trial of Pembrolizumab (MK-3475) 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
22 3CI Study: Childhood Cancer Combination Immunotherapy. Phase Ib and Expansion Study of Nivolumab Combination Immunotherapy in Children, Adolescent and Young Adult (CAYA) Patients With Relapsed/Refractory Hypermutant Cancers Withdrawn NCT04500548 Phase 1
23 Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer Unknown status NCT03291106
24 A Compare of Microsatellite Instability in Circulatory DNA and Tumor Tissue of Endometrial Cancer Unknown status NCT03744962
25 Personalized Prostate Cancer Screening Among Men With High Risk Genetic Predisposition- a Prospective Cohort Study Unknown status NCT02053805
26 Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma Unknown status NCT04516083
27 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
28 Cost Effectiveness of Two Different Implementation Procedures to Change Clinicians Practice Roles in the Detection of Hereditary Colorectal Cancer Unknown status NCT00141466
29 The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC) Unknown status NCT01447199
30 Implementation of Guidelines on Hereditary or Familial Colorectal Cancer Risk Calculation and Risk Communication Unknown status NCT00929097
31 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
32 Molecular Screening for Lynch Syndrome in Denmark Completed NCT01845753
33 Linked Color Imaging Versus High-definition White Light Endoscopy for the Detection of Polyps in Patients With Lynch Syndrome. An International, Multicenter, Parallel Randomized Controlled Trial. Completed NCT03344289
34 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
35 High Definition White-Light Colonoscopy Versus Chromoendoscopy for Surveillance of Lynch Syndrome. A Prospective, Multicenter and Randomized Study Completed NCT02951390
36 Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome Completed NCT01850654
37 Cancer Survivorship in Lynch Syndrome: Impact on Patients and Families Completed NCT01126840
38 Predictive Factor Study of the Occurrence of Endometrial Cancer in Patients With Lynch Syndrome: Study Conducted in the Hauts-de-France Completed NCT04452266
39 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
40 Chromoendoscopy in Lynch Syndrome Patients Completed NCT00905710
41 Capsule Endoscopy in Lynch Syndrome for Small Intestinal Tumor Screening Completed NCT00898768 Early Phase 1
42 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
43 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
44 Identifying the Risk of Hereditary and Familial Colorectal Cancer in Colorectal Cancer Patients by Using an Online Risk Tool: An Evaluation Based on a Stepped Wedge Design Completed NCT02645084
45 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
46 Comparison of Colonoscopy With Virtual Chromoendoscopy Using 3rd Generation NBI System to Chromoendoscopy With Indigo Carmine in Lynch Patients. Completed NCT02570516
47 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505
48 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
49 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
50 Psychosocial Aspects of Genetic Testing for HNPCC Completed NCT00341575

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 28 MLH1 MSH2 MSH6 PMS2
2 Hereditary Nonpolyposis Colon Cancer 28
3 Hereditary Nonpolyposis Colorectal Carcinoma 28

Anatomical Context for Lynch Syndrome

Organs/tissues related to Lynch Syndrome:

MalaCards : Colon, Small Intestine, Ovary, Prostate, Brain, Skin, Uterus

Publications for Lynch Syndrome

Articles related to Lynch Syndrome:

(show top 50) (show all 7012)
# Title Authors PMID Year
1
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 53 62 24 5
20205264 2010
2
Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome. 53 62 24 5
19455606 2009
3
Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg? 53 62 24 5
18709565 2008
4
The frequency of Muir-Torre syndrome among Lynch syndrome families. 53 62 24 5
18270343 2008
5
Distinct clinical phenotype and genetic testing strategy for Lynch syndrome in China based on a large colorectal cancer cohort. 62 24 5
32030746 2020
6
Universal screening for Lynch syndrome in a large consecutive cohort of Chinese colorectal cancer patients: High prevalence and unique molecular features. 62 24 5
30521064 2019
7
Comprehensive Paired Tumor/Germline Testing for Lynch Syndrome: Bringing Resolution to the Diagnostic Process. 62 24 5
30702970 2019
8
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 62 24 5
28874130 2017
9
Comprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2. 62 24 5
28466842 2017
10
Cancer Susceptibility Gene Mutations in Individuals With Colorectal Cancer. 62 24 5
28135145 2017
11
Comprehensive Mutation Analysis of PMS2 in a Large Cohort of Probands Suspected of Lynch Syndrome or Constitutional Mismatch Repair Deficiency Syndrome. 62 24 5
27435373 2016
12
PMS2 monoallelic mutation carriers: the known unknown. 62 24 5
25856668 2016
13
Identification of germline genetic mutations in patients with pancreatic cancer. 62 24 5
26440929 2015
14
A Comprehensive Strategy for Accurate Mutation Detection of the Highly Homologous PMS2. 62 24 5
26320870 2015
15
Glioblastomas, astrocytomas and oligodendrogliomas linked to Lynch syndrome. 62 24 5
25648859 2015
16
Screening for germline mismatch repair mutations following diagnosis of sebaceous neoplasm. 62 24 5
25006859 2014
17
Prostate cancer incidence in males with Lynch syndrome. 62 24 5
24434690 2014
18
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 62 24 5
24310308 2014
19
Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature review. 62 24 5
23938213 2013
20
Adrenocortical carcinoma is a lynch syndrome-associated cancer. 62 24 5
23752102 2013
21
Recurrent and founder mutations in the PMS2 gene. 62 24 5
22577899 2013
22
Comparison between universal molecular screening for Lynch syndrome and revised Bethesda guidelines in a large population-based cohort of patients with colorectal cancer. 62 24 5
21868491 2012
23
Determining the frequency of de novo germline mutations in DNA mismatch repair genes. 62 24 5
21636617 2011
24
Recurrence and variability of germline EPCAM deletions in Lynch syndrome. 62 24 5
21309036 2011
25
Risk of colorectal and endometrial cancers in EPCAM deletion-positive Lynch syndrome: a cohort study. 62 24 5
21145788 2011
26
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations. 62 24 5
20531397 2010
27
Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients. 62 24 5
20186688 2010
28
Sarcomas associated with hereditary nonpolyposis colorectal cancer: broad anatomical and morphological spectrum. 62 24 5
19130300 2009
29
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 62 24 5
16807412 2006
30
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. 24 5
28596308 2017
31
Exome Sequencing Identifies Biallelic MSH3 Germline Mutations as a Recessive Subtype of Colorectal Adenomatous Polyposis. 24 5
27476653 2016
32
Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 24 5
27433846 2016
33
A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype. 24 5
25691505 2015
34
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. 24 5
25479140 2015
35
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 24 5
24440087 2014
36
Dominantly inherited constitutional epigenetic silencing of MLH1 in a cancer-affected family is linked to a single nucleotide variant within the 5'UTR. 24 5
21840485 2011
37
Somatic hypermethylation of MSH2 is a frequent event in Lynch Syndrome colorectal cancers. 53 62 5
20388775 2010
38
Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome. 53 62 5
20305446 2010
39
Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases. 53 62 5
19690142 2009
40
Germ-line mutations in mismatch repair genes associated with prostate cancer. 53 62 5
19723918 2009
41
Penetrance of colorectal cancer among MLH1/MSH2 carriers participating in the colorectal cancer familial registry in Ontario. 53 62 5
19698169 2009
42
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 53 62 5
19459153 2009
43
Quantitative PCR high-resolution melting (qPCR-HRM) curve analysis, a new approach to simultaneously screen point mutations and large rearrangements: application to MLH1 germline mutations in Lynch syndrome. 53 62 5
19224586 2009
44
Large genomic rearrangements and germline epimutations in Lynch syndrome. 53 62 5
19173287 2009
45
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 53 62 5
19419416 2009
46
PMS2 involvement in patients suspected of Lynch syndrome. 53 62 5
19132747 2009
47
Population-based detection of Lynch syndrome in young colorectal cancer patients using microsatellite instability as the initial test. 53 62 5
19072991 2009
48
Intraductal papillary mucinous neoplasm of the pancreas with loss of mismatch repair in a patient with Lynch syndrome. 53 62 5
18987546 2009
49
Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome. 53 62 5
19177550 2009
50
Somatic mosaicism in a patient with Lynch syndrome. 53 62 5
19133695 2009

Variations for Lynch Syndrome

ClinVar genetic disease variations for Lynch Syndrome:

5 (show top 50) (show all 14969)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPCAM NM_002354.2(EPCAM):c.859-?_*415del DEL Pathogenic
188070 GRCh37: 2:47612305-47614167
GRCh38: 2:47385166-47387028
2 EPCAM NC_000002.12:g.(?_47377014)_(47377077_?)del DEL Pathogenic
417534 GRCh37: 2:47604153-47604216
GRCh38: 2:47377014-47377077
3 EPCAM NC_000002.12:g.(?_47378953)_(47387028_?)del DEL Pathogenic
417532 GRCh37: 2:47606092-47614167
GRCh38: 2:47378953-47387028
4 overlap with 2 genes NC_000002.12:g.(?_47369148)_(47387028_?)del DEL Pathogenic
417530 GRCh37: 2:47596287-47614167
GRCh38: 2:47369148-47387028
5 EPCAM NC_000002.12:g.(?_47369500)_(47369587_?)del DEL Pathogenic
455031 GRCh37: 2:47596639-47596726
GRCh38: 2:47369500-47369587
6 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47377008)_(47386619_?)del DEL Pathogenic
455036 GRCh37:
GRCh38: 2:47377008-47386619
7 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47373457)_(47386619_?)del DEL Pathogenic
525969 GRCh37: 2:47600596-47613758
GRCh38: 2:47373457-47386619
8 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47373457)_(47379975_?)del DEL Pathogenic
525990 GRCh37: 2:47600596-47607114
GRCh38: 2:47373457-47379975
9 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47369500)_(47379975_?)del DEL Pathogenic
525994 GRCh37: 2:47596639-47607114
GRCh38: 2:47369500-47379975
10 EPCAM NC_000002.12:g.(?_47373463)_(47377077_?)del DEL Pathogenic
583448 GRCh37: 2:47600602-47604216
GRCh38: 2:47373463-47377077
11 EPCAM NC_000002.12:g.(?_47369496)_(47369591_?)del DEL Pathogenic
584382 GRCh37: 2:47596635-47596730
GRCh38: 2:47369496-47369591
12 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47373453)_(47379979_?)del DEL Pathogenic
639880 GRCh37: 2:47600592-47607118
GRCh38: 2:47373453-47379979
13 EPCAM NC_000002.12:g.(?_47377004)_(47377087_?)del DEL Pathogenic
639884 GRCh37: 2:47604143-47604226
GRCh38: 2:47377004-47377087
14 EPCAM NC_000002.12:g.(?_47385156)_(47386623_?)del DEL Pathogenic
644275 GRCh37: 2:47612295-47613762
GRCh38: 2:47385156-47386623
15 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47377004)_(47386623_?)del DEL Pathogenic
652969 GRCh37: 2:47604143-47613762
GRCh38: 2:47377004-47386623
16 EPCAM and overlap with 1 gene(s) NC_000002.12:g.(?_47369496)_(47386623_?)del DEL Pathogenic
656301 GRCh37: 2:47596635-47613762
GRCh38: 2:47369496-47386623
17 EPCAM NC_000002.12:g.(?_47375224)_(47377087_?)del DEL Pathogenic
831081 GRCh37: 2:47602363-47604226
GRCh38:
18 EPCAM NC_000002.12:g.(?_47369506)_(47386613_?)del DEL Pathogenic
831084 GRCh37: 2:47596645-47613752
GRCh38:
19 EPCAM NC_000002.12:g.(?_47369496)_(47379979_?)del DEL Pathogenic
831211 GRCh37: 2:47596635-47607118
GRCh38:
20 EPCAM NC_000002.12:g.(?_47378939)_(47386613_?)del DEL Pathogenic
832005 GRCh37: 2:47606078-47613752
GRCh38:
21 EPCAM NC_000002.12:g.(?_47385055)_(47391097_?)del DEL Pathogenic
832062 GRCh37: 2:47612194-47618236
GRCh38:
22 EPCAM NC_000002.12:g.(?_47369506)_(47369591_?)del DEL Pathogenic
833438 GRCh37: 2:47596645-47596730
GRCh38:
23 EPCAM NC_000002.12:g.(47379970_47385165)_(47387029_?)del DEL Pathogenic
982015 GRCh37: 2:47607109-47614168
GRCh38:
24 EPCAM NC_000002.12:g.(?_47385156)_(47386613_?)del DEL Pathogenic
832828 GRCh37: 2:47612295-47613752
GRCh38:
25 EPCAM NC_000002.11:g.(?_47604143)_(47613752_?)del DEL Pathogenic
1070268 GRCh37: 2:47604143-47613752
GRCh38:
26 EPCAM NC_000002.11:g.(?_47600592)_(47613752_?)del DEL Pathogenic
1076143 GRCh37: 2:47600592-47613752
GRCh38:
27 EPCAM NC_000002.11:g.(?_47596645)_(47604226_?)del DEL Pathogenic
1411908 GRCh37: 2:47596645-47604226
GRCh38:
28 EPCAM NC_000002.11:g.(?_47613701)_(47613752_?)del DEL Pathogenic
1460466 GRCh37: 2:47613701-47613752
GRCh38:
29 EPCAM NC_000002.11:g.(?_47600592)_(47604226_?)del DEL Pathogenic
1458036 GRCh37: 2:47600592-47604226
GRCh38:
30 EPCAM NM_002354.3(EPCAM):c.429G>A (p.Trp143Ter) SNV Pathogenic
239127 rs878854488 GRCh37: 2:47602376-47602376
GRCh38: 2:47375237-47375237
31 EPCAM NM_002354.3(EPCAM):c.712del (p.Glu238fs) DEL Pathogenic
579230 rs1558438591 GRCh37: 2:47606959-47606959
GRCh38: 2:47379820-47379820
32 EPCAM NM_002354.3(EPCAM):c.133C>T (p.Gln45Ter) SNV Pathogenic
Pathogenic
239120 rs878854485 GRCh37: 2:47600658-47600658
GRCh38: 2:47373519-47373519
33 EPCAM NM_002354.3(EPCAM):c.523C>T (p.Gln175Ter) SNV Pathogenic
Pathogenic
239132 rs878854491 GRCh37: 2:47604184-47604184
GRCh38: 2:47377045-47377045
34 EPCAM NM_002354.3(EPCAM):c.491+1G>T SNV Pathogenic
220128 rs606231203 GRCh37: 2:47602439-47602439
GRCh38: 2:47375300-47375300
35 EPCAM NC_000002.11:g.(?_47596645)_(47607118_?)del DEL Pathogenic
1359152 GRCh37: 2:47596645-47607118
GRCh38:
36 EPCAM NC_000002.11:g.(?_47602363)_(47602448_?)del DEL Pathogenic
1442833 GRCh37: 2:47602363-47602448
GRCh38:
37 EPCAM NC_000002.11:g.(?_47612824)_(47615711_?)del DEL Pathogenic
1459802 GRCh37: 2:47612824-47615711
GRCh38:
38 EPCAM NC_000002.11:g.(?_47596645)_(47602448_?)del DEL Pathogenic
1455569 GRCh37: 2:47596645-47602448
GRCh38:
39 EPCAM NM_002354.2(EPCAM):c.904-?_945+?del DEL Pathogenic
433577 GRCh37: 2:47613711-47613752
GRCh38:
40 FANCM NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) SNV Pathogenic
526381 rs144567652 GRCh37: 14:45667921-45667921
GRCh38: 14:45198718-45198718
41 overlap with 2 genes NM_000179.2(MSH6):c.(?_-152)_(*93_?)del DEL Pathogenic
89149 GRCh37: 2:48010221-48034092
GRCh38: 2:47783082-47806953
42 MSH6 NM_000179.2(MSH6):c.(?_-152)_457+?del DEL Pathogenic
89150 GRCh37: 2:48010221-48018262
GRCh38: 2:47783082-47791123
43 MSH6 NM_000179.2(MSH6):c.-11863_457+1921del DEL Pathogenic
89156 GRCh37: 2:47998510-48020183
GRCh38: 2:47771371-47793044
44 MSH6 NM_000179.2(MSH6):c.-3097_457+2010del DEL Pathogenic
89161 GRCh37: 2:48007276-48020272
GRCh38: 2:47780137-47793133
45 MSH6 NM_000179.3(MSH6):c.1085del (p.Pro362fs) DEL Pathogenic
89169 rs267608056 GRCh37: 2:48026205-48026205
GRCh38: 2:47799066-47799066
46 MSH6 NM_000179.3(MSH6):c.1101del (p.His367fs) DEL Pathogenic
89171 rs587779203 GRCh37: 2:48026223-48026223
GRCh38: 2:47799084-47799084
47 MSH6 NM_000179.3(MSH6):c.1193T>A (p.Val398Glu) SNV Pathogenic
89179 rs587779208 GRCh37: 2:48026315-48026315
GRCh38: 2:47799176-47799176
48 MSH6 NM_000179.3(MSH6):c.1276del (p.Cys426fs) DEL Pathogenic
89184 rs587779209 GRCh37: 2:48026398-48026398
GRCh38: 2:47799259-47799259
49 MSH6 NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter) SNV Pathogenic
89185 rs267608055 GRCh37: 2:48026421-48026421
GRCh38: 2:47799282-47799282
50 MSH6 NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter) SNV Pathogenic
89196 rs267608046 GRCh37: 2:48026599-48026599
GRCh38: 2:47799460-47799460

Copy number variations for Lynch Syndrome from CNVD:

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

Expression for Lynch Syndrome

Search GEO for disease gene expression data for Lynch Syndrome.

Pathways for Lynch Syndrome

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

(show all 44)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.71 TP53 TGFBR2 PMS2 PIK3CA MUTYH MSH6
2
Show member pathways
13.43 APC BRAF BRCA1 BRCA2 KRAS MSH6
3
Show member pathways
13.18 TP53 POLE PMS2 MUTYH MSH6 MSH3
4
Show member pathways
12.93 TP53 MSH6 MSH3 MSH2 MLH1 KRAS
5
Show member pathways
12.81 TP53 TGFBR2 PIK3CA KRAS BRAF
6
Show member pathways
12.65 POLE PMS2 MUTYH MSH6 MSH3 MSH2
7
Show member pathways
12.6 TP53 POLE MSH6 MSH3 MSH2 BRCA2
8 12.49 TP53 MUTYH MSH6 MSH2 MLH1 BRCA2
9
Show member pathways
12.44 TP53 PIK3CA KRAS BRAF
10
Show member pathways
12.43 APC BRAF BRCA1 BRCA2 KRAS PIK3CA
11
Show member pathways
12.4 TP53 TGFBR2 PIK3CA KRAS
12
Show member pathways
12.38 POLE PMS2 PMS1 MUTYH MSH6 MSH3
13 12.35 TP53 TGFBR2 KRAS BRAF
14
Show member pathways
12.35 PIK3CA KRAS BRCA1 BRAF
15
Show member pathways
12.32 TP53 TGFBR2 PIK3CA MSH6 MSH3 MSH2
16
Show member pathways
12.17 TP53 PIK3CA KRAS BRAF
17 12.15 BRAF BRCA1 BRCA2 KRAS MSH2 MSH6
18 12.14 TP53 TGFBR2 PIK3CA KRAS
19 12.1 PIK3CA KRAS BRAF APC
20 12.07 TP53 PMS2 MSH2 MLH1 APC
21 12.05 TP53 KRAS BRAF APC
22 12.03 APC BRAF KRAS MLH1 MSH2 MSH3
23
Show member pathways
11.92 POLE PMS2 MUTYH MSH6 MSH3 MSH2
24 11.9 APC KRAS PIK3CA TP53
25
Show member pathways
11.86 TP53 BRCA2 BRCA1
26 11.85 TGFBR2 KRAS BRAF
27
Show member pathways
11.83 TP53 MSH6 MSH2 BRCA2 BRCA1
28 11.8 TP53 POLE MSH6
29 11.8 TP53 MSH2 MLH1 BRCA2 BRCA1
30
Show member pathways
11.78 TP53 TGFBR2 PIK3CA KRAS
31 11.74 BRAF KRAS TP53
32
Show member pathways
11.74 BRAF KRAS PIK3CA
33 11.74 TP53 TGFBR2 PIK3CA KRAS
34 11.62 TP53 PIK3CA BRCA1
35
Show member pathways
11.61 PIK3CA KRAS BRAF
36
Show member pathways
11.58 TP53 PIK3CA APC
37 11.44 TP53 MSH6 MSH2 BRCA1
38
Show member pathways
11.4 TP53 MSH2 MLH1
39 11.39 TP53 KRAS BRAF
40 11.3 MLH1 MSH2 MSH6 PMS2
41 11.21 PIK3CA KRAS BRAF
42 10.68 TP53 BRAF
43 10.67 PIK3CA BRAF
44
Show member pathways
10.23 PMS2 MLH1

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 male germ cell nucleus GO:0001673 9.93 MLH3 MLH1 BRCA1
2 nuclear ubiquitin ligase complex GO:0000152 9.73 BRCA2 BRCA1
3 MutLalpha complex GO:0032389 9.67 PMS2 MLH1
4 condensed nuclear chromosome GO:0000794 9.58 MLH3 MLH1 BRCA1
5 MutSalpha complex GO:0032301 9.56 MSH2 MSH6
6 condensed chromosome GO:0000793 9.5 MLH3 MLH1 BRCA1
7 MutSbeta complex GO:0032302 9.46 MSH3 MSH2
8 mismatch repair complex GO:0032300 9.28 PMS2 PMS1 MSH2 MLH3 MLH1
9 chiasma GO:0005712 9.26 MLH3 MLH1

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 10.2 PIK3CA MSH2 KRAS BRAF
2 nucleic acid phosphodiester bond hydrolysis GO:0090305 10.16 POLE PMS2 FANCM FAN1
3 double-strand break repair GO:0006302 10.13 TP53 MSH2 BRCA2 BRCA1
4 cellular response to DNA damage stimulus GO:0006974 10.11 APC BRCA1 BRCA2 FAN1 FANCM MLH1
5 nucleotide-excision repair GO:0006289 10.06 TP53 FAN1 BRCA2
6 cellular response to ionizing radiation GO:0071479 10.05 BRCA1 BRCA2 TP53
7 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 10.02 BRCA2 MSH2 TP53
8 determination of adult lifespan GO:0008340 10.01 TP53 MSH6 MSH2
9 response to X-ray GO:0010165 9.99 BRCA2 MSH2 TP53
10 isotype switching GO:0045190 9.97 MSH6 MSH2 MLH1
11 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.97 MSH6 MSH2 MLH1 BRCA2 BRCA1
12 negative regulation of DNA recombination GO:0045910 9.93 MSH6 MSH3 MSH2
13 DNA repair GO:0006281 9.93 BRCA1 BRCA2 FAN1 FANCM MLH1 MLH3
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.92 PMS2 MSH6 MSH2 MLH1
15 mitotic recombination GO:0006312 9.91 MSH3 MSH2
16 positive regulation of helicase activity GO:0051096 9.91 MSH2 MSH3 MSH6
17 positive regulation of isotype switching to IgA isotypes GO:0048298 9.87 MSH2 MLH1
18 maintenance of DNA repeat elements GO:0043570 9.8 MSH6 MSH3 MSH2
19 somatic recombination of immunoglobulin gene segments GO:0016447 9.8 MLH1 MSH2 MSH3 MSH6
20 chordate embryonic development GO:0043009 9.77 BRCA2 BRCA1
21 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.65 MSH2 MLH1
22 mismatch repair GO:0006298 9.53 MLH1 MLH3 MSH2 MSH3 MSH6 MUTYH

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.55 BRAF FANCM MLH1 MLH3 MSH2 MSH3
2 DNA binding GO:0003677 10.41 TP53 POLE PMS2 PMS1 MUTYH MSH6
3 chromatin binding GO:0003682 10.37 FANCM MLH1 MLH3 MSH2 MSH6 POLE
4 ATP hydrolysis activity GO:0016887 10.35 PMS2 PMS1 MSH2 MLH3 MLH1 FANCM
5 enzyme binding GO:0019899 10.34 TP53 PMS1 MSH6 MSH3 MSH2 MLH1
6 single-stranded DNA binding GO:0003697 10.18 BRCA2 MLH1 MSH2 MSH3 PMS2
7 nucleotide binding GO:0000166 10.17 BRAF FANCM KRAS MLH1 MSH2 MSH3
8 four-way junction DNA binding GO:0000400 10.01 MSH6 MSH2 FANCM
9 centromeric DNA binding GO:0019237 9.88 MSH2 MLH3
10 dinucleotide insertion or deletion binding GO:0032139 9.88 MSH3 MSH2
11 MutSalpha complex binding GO:0032407 9.88 PMS2 MUTYH MLH1
12 single thymine insertion binding GO:0032143 9.86 MSH2 MSH6
13 dinucleotide repeat insertion binding GO:0032181 9.85 MSH2 MSH3
14 single guanine insertion binding GO:0032142 9.8 MSH2 MSH3 MSH6
15 oxidized purine DNA binding GO:0032357 9.8 MUTYH MSH6 MSH3 MSH2
16 ATP-dependent DNA damage sensor activity GO:0140664 9.8 MLH1 MLH3 MSH2 MSH3 MSH6 PMS1
17 MutLalpha complex binding GO:0032405 9.77 MUTYH MSH6 MSH2
18 guanine/thymine mispair binding GO:0032137 9.7 MSH6 MSH3 MSH2 MLH1
19 mismatched DNA binding GO:0030983 9.4 PMS2 PMS1 MSH6 MSH3 MSH2 MLH3

Sources for Lynch Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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