LYNCH1
MCID: LYN005
MIFTS: 61

Lynch Syndrome 1 (LYNCH1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Lynch Syndrome 1

MalaCards integrated aliases for Lynch Syndrome 1:

Name: Lynch Syndrome 1 57 11 28 5 14
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 57 12 71
Hnpcc1 57 11 73
Fcc1 57 11
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 38
Colorectal Cancer, Hereditary Nonpolyposis, Type 3 71
Hereditary Nonpolyposis Colorectal Cancer Type 1 11
Hereditary Non-Polyposis Colorectal Cancer 1 73
Hereditary Non-Polyposis Colorectal Cancer 3 73
Hereditary Non-Polyposis Colon Cancer Type 2 71
Colon Cancer, Familial Nonpolyposis, Type 1 57
Familial Nonpolyposis Colon Cancer Type 1 11
Hereditary Nonpolyposis Colorectal Cancer 71
Lynch Cancer Family Syndrome 73
Lynch Syndrome Ii, Formerly 57
Lynch Syndrome I, Formerly 57
Lynch Syndrome Type Ii 73
Lynch Syndrome Type I 73
Lynch Syndrome I 53
Lynch Syndrome 73
Lynch1 57
Hnpcc3 73
Coca1 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0070271
OMIM® 57 120435
OMIM Phenotypic Series 57 PS120435
MeSH 43 D003123
SNOMED-CT via HPO 69 363406005
UMLS 71 C1333990 C1333991 C2936783 more

Summaries for Lynch Syndrome 1

UniProtKB/Swiss-Prot: 73 An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra- colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two; 2 or more generation affected; 1 or more colorectal cancers presenting before 50 years of age; exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected.

MalaCards based summary: Lynch Syndrome 1, also known as colorectal cancer, hereditary nonpolyposis, type 1, is related to lynch syndrome 5 and lynch syndrome 2. An important gene associated with Lynch Syndrome 1 is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are Homology Directed Repair and Regulation of TP53 Activity. The drugs Pancrelipase and Atezolizumab have been mentioned in the context of this disorder. Affiliated tissues include colon, small intestine and breast, and related phenotypes are colon cancer and Synthetic lethal with MLN4924 (a NAE inhibitor)

OMIM®: 57 Lynch syndrome (LYNCH), also called hereditary nonpolyposis colorectal cancer, is defined as an autosomal dominant predisposition to a spectrum of cancers, primarily of the colorectum and endometrium, which exhibit impaired DNA mismatch repair (MMR) activity (summary by Lynch et al., 2015). (120435) (Updated 08-Dec-2022)

Disease Ontology: 11 A Lynch syndrome that has material basis in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.

Related Diseases for Lynch Syndrome 1

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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 388)
# Related Disease Score Top Affiliating Genes
1 lynch syndrome 5 32.6 PMS2 MSH6 MSH2 MLH1
2 lynch syndrome 2 32.5 TFCP2 MLH1
3 mismatch repair cancer syndrome 1 32.3 PMS2 PMS1 MSH6 MSH2 MLH1
4 lynch syndrome 4 32.3 PTPN13 PMS2 PMS1 MLH1
5 muir-torre syndrome 31.9 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
6 lynch syndrome 31.8 RAD51D PMS2 PMS1 PALB2 MSH6 MSH2
7 adenoma 31.6 PMS2 MSH6 MSH2 MLH1
8 colorectal cancer, hereditary nonpolyposis, type 6 31.5 PTPN13 PMS2 PMS1 MSH6 MSH2 MLH1
9 familial colorectal cancer 31.4 MSH2 MLH1
10 adenocarcinoma 31.2 MSH6 MSH2 MLH1 EPCAM ATM
11 colorectal adenoma 31.2 PMS2 MSH6 MSH2 MLH1
12 familial adenomatous polyposis 31.1 PMS2 PMS1 MSH6 MSH2 MLH1
13 bap1 tumor predisposition syndrome 31.0 RAD51L3-RFFL RAD51D PMS2 PALB2 MSH6 MSH2
14 inherited cancer-predisposing syndrome 31.0 RAD51L3-RFFL RAD51D PMS2 PALB2 MSH6 MSH2
15 mismatch repair cancer syndrome 31.0 PMS2 PMS1 PALB2 MSH6 MSH2 MLH1
16 rectal benign neoplasm 31.0 PMS2 MSH6 MSH2 MLH1
17 small intestine cancer 31.0 PMS2 MSH6 MSH2 MLH1 EPCAM
18 colonic benign neoplasm 30.9 PMS2 PALB2 MSH6 MSH2 MLH1 EPCAM
19 rectum cancer 30.9 MSH6 MSH2 MLH1
20 colorectal adenocarcinoma 30.9 PMS2 MSH6 MSH2 MLH1
21 ovarian cancer 30.9 UNC93A RAD51L3-RFFL RAD51D PTPN13 PMS2 PMS1
22 small intestine adenocarcinoma 30.8 PMS2 MSH6 MSH2 MLH1
23 mucinous adenocarcinoma 30.8 PMS2 MSH6 MSH2 MLH1
24 endometrial hyperplasia 30.8 MSH6 MSH2 MLH1
25 ascending colon cancer 30.7 PMS2 MSH6 MSH2 MLH1
26 skin squamous cell carcinoma 30.7 PMS2 MSH6 MSH2 MLH1
27 endometrial adenocarcinoma 30.7 PMS2 MSH6 MSH2 MLH1
28 duodenum cancer 30.7 PMS2 MSH6 MSH2 MLH1
29 serous cystadenocarcinoma 30.6 RAD51D PMS2 MSH6 MSH2 MLH1
30 jejunal adenocarcinoma 30.6 PMS2 MSH6 MSH2 MLH1
31 ureter, cancer of 30.6 MSH6 MSH2 MLH1
32 duodenum adenocarcinoma 30.5 PMS2 MSH6 MSH2 MLH1
33 adrenal cortical carcinoma 30.5 PMS2 MSH6 MSH2 MLH1 CHEK2 ATM
34 cecum carcinoma 30.5 PMS2 MSH6 MSH2 MLH1
35 transverse colon cancer 30.5 PMS2 MLH1
36 rectum adenocarcinoma 30.5 PMS2 MSH6 MSH2 MLH1
37 endometrioid ovary carcinoma 30.4 MSH6 MSH2 MLH1
38 familial adenomatous polyposis 2 30.3 PMS2 PALB2 MSH6 MSH2 MLH1 EPCAM
39 endocervical carcinoma 30.3 PMS2 MSH6 MSH2
40 jejunal cancer 30.3 PMS2 MSH6 MSH2 MLH1
41 uterine carcinosarcoma 30.3 PMS2 MSH6 MSH2 MLH1
42 intestinal benign neoplasm 30.2 PMS2 MSH6 MSH2 MLH1
43 neurofibromatosis, type i 30.2 PMS2 MSH6 MSH2 MLH1
44 neurofibromatosis 30.2 PMS2 MSH6 MSH2 MLH1
45 spindle cell intraocular melanoma 30.2 PMS2 MLH1
46 sebaceous adenoma 30.2 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
47 sebaceous adenocarcinoma 30.2 PMS2 PMS1 MSH6 MSH2 MLH1
48 hereditary breast ovarian cancer syndrome 30.1 RAD51L3-RFFL RAD51D PMS2 PMS1 PALB2 MSH6
49 hereditary breast cancer 30.1 PALB2 CHEK2
50 desmoid tumor 30.1 PMS2 MSH6 MSH2

Graphical network of the top 20 diseases related to Lynch Syndrome 1:



Diseases related to Lynch Syndrome 1

Symptoms & Phenotypes for Lynch Syndrome 1

Human phenotypes related to Lynch Syndrome 1:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 colon cancer 30 HP:0003003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
nonpolyposis colon cancer

Clinical features from OMIM®:

120435 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Lynch Syndrome 1 according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.44 MLH1 PALB2
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.44 ATM MLH1 PALB2
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.44 ATM CHEK2 MLH1 MSH2 MSH6 PMS1

MGI Mouse Phenotypes related to Lynch Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.61 ATM CHEK2 MLH1 MORC2 MSH2 MSH6
2 cellular MP:0005384 9.4 ATM CHEK2 EPCAM GDPD2 MLH1 MORC2

Drugs & Therapeutics for Lynch Syndrome 1

Drugs for Lynch Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 69)
# 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
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
9 Immunoglobulins Phase 3
10 Antibodies Phase 3
11 Acetylsalicylic acid lysinate Phase 3
12 Hormone Antagonists Phase 3
13 Pancreatin Phase 3
14 Gastrointestinal Agents Phase 3
15
Secretin Phase 3 71306891
16 Antibodies, Monoclonal Phase 3
17 Antimetabolites Phase 3
18 Cola 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 Fibrinolytic Agents Phase 3
38 Antipyretics Phase 3
39 Cyclooxygenase Inhibitors Phase 3
40 Platelet Aggregation Inhibitors Phase 3
41
Serine Investigational, Nutraceutical Phase 3 56-45-1 5951
42
Calcium Nutraceutical Phase 3 7440-70-2 271
43
Capecitabine Approved, Investigational Phase 2 154361-50-9 60953
44
Naproxen Approved, Vet_approved Phase 2 22204-53-1 156391 1302
45
Aminosalicylic acid Approved Phase 2 65-49-6 4649
46
Mesalazine Approved Phase 2 89-57-6 4075
47 Omega 3 Fatty Acid Phase 2
48 Analgesics Phase 2
49 Antirheumatic Agents Phase 2
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2

Interventional clinical trials:

(show top 50) (show all 79)
# 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 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
8 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome Recruiting NCT04920149 Phase 2 Mesalamine;Placebo
9 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
10 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
11 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
12 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)
13 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
14 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
15 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
16 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome - MesaCAPP Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
17 A Phase Ib Biomarker Trial of Naproxen in Patients at Risk for DNA Mismatch Repair Deficient Colorectal Cancer Completed NCT02052908 Phase 1 Naproxen
18 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
19 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
20 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
21 Cost Effectiveness of Two Different Implementation Procedures to Change Clinicians Practice Roles in the Detection of Hereditary Colorectal Cancer Unknown status NCT00141466
22 Cohort Study of Universal Screening for Lynch Syndrome in Chinese Patients of Endometrial Cancer Unknown status NCT03291106
23 Personalized Prostate Cancer Screening Among Men With High Risk Genetic Predisposition- a Prospective Cohort Study Unknown status NCT02053805
24 A Compare of Microsatellite Instability in Circulatory DNA and Tumor Tissue of Endometrial Cancer Unknown status NCT03744962
25 Correlation Between Somatic Mismatch Repair Instability and Germline Mismatch Repair Instability, in Low Socioeconomic Background Population Diagnosed With Endometrial Endometrioid Adenocarcinoma Unknown status NCT04516083
26 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
27 Molecular Screening for Lynch Syndrome in Denmark Completed NCT01845753
28 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
29 Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome Completed NCT01850654
30 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
31 High Definition White-Light Colonoscopy Versus Chromoendoscopy for Surveillance of Lynch Syndrome. A Prospective, Multicenter and Randomized Study Completed NCT02951390
32 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
33 Chromoendoscopy in Lynch Syndrome Patients Completed NCT00905710
34 Capsule Endoscopy in Lynch Syndrome for Small Intestinal Tumor Screening Completed NCT00898768 Early Phase 1
35 Cancer Survivorship in Lynch Syndrome: Impact on Patients and Families Completed NCT01126840
36 Predictive Factor Study of the Occurrence of Endometrial Cancer in Patients With Lynch Syndrome: Study Conducted in the Hauts-de-France Completed NCT04452266
37 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
38 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
39 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
40 Comparison of Colonoscopy With Virtual Chromoendoscopy Using 3rd Generation NBI System to Chromoendoscopy With Indigo Carmine in Lynch Patients. Completed NCT02570516
41 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
42 Telemedicine vs. Face-to-Face Cancer Genetic Counseling in Rural Oncology Clinics Completed NCT00609505
43 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
44 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
45 The GEOLynch Cohort Study: Genetic, Environmental and Other Factors That Influence Tumour Risk Among Persons With Lynch Syndrome Recruiting NCT03303833
46 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
47 Impact of Atorvastatin ± Aspirin on Colorectal Biomarkers in Patients With Lynch Syndrome: a Pilot Study Recruiting NCT04379999 Early Phase 1 Atorvastatin 20mg;Atorvastatin 20mg AND Aspirin 325 mg
48 Evaluation of ArTificial Intelligence System (Gi-Genius) for adenoMa dEtection in Lynch Syndrome. A Randomized, Parallel, Multicenter, Controlled Trial. TIMELY Study. Recruiting NCT04909671
49 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
50 Faecal Microbiota Characterization in Lynch Syndrome (LS) Patients With or Without Colorectal Neoplasia ( AAS-Lynch-Microbiote) Recruiting NCT04791644

Search NIH Clinical Center for Lynch Syndrome 1

Genetic Tests for Lynch Syndrome 1

Genetic tests related to Lynch Syndrome 1:

# Genetic test Affiliating Genes
1 Lynch Syndrome 1 28 MSH2 PMS1

Anatomical Context for Lynch Syndrome 1

Organs/tissues related to Lynch Syndrome 1:

MalaCards : Colon, Small Intestine, Breast, Ovary, Uterus, Skin, Prostate
ODiseA: Digestive System, Digestive System-Colon

Publications for Lynch Syndrome 1

Articles related to Lynch Syndrome 1:

(show top 50) (show all 3987)
# Title Authors PMID Year
1
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 62 57 5
20587412 2010
2
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 62 57 5
20591884 2010
3
Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer). 62 57 5
15872200 2005
4
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. 62 57 5
14871915 2004
5
New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. 62 57 5
10348829 1999
6
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 57 5
17250661 2007
7
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). 57 5
15942939 2005
8
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 57 5
14994245 2004
9
Cancer risk in 348 French MSH2 or MLH1 gene carriers. 57 5
12624141 2003
10
Conversion of diploidy to haploidy. 57 5
10693791 2000
11
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 57 5
8261515 1993
12
Germline variants screening of MLH1, MSH2, MSH6 and PMS2 genes in 64 Algerian Lynch syndrome families: The first nationwide study. 62 5
36073783 2022
13
Molecular pathology of Lynch syndrome. 62 5
32141610 2020
14
A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America. 62 5
28874130 2017
15
Predicting the impact of Lynch syndrome-causing missense mutations from structural calculations. 62 5
28422960 2017
16
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 62 5
27601186 2016
17
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 62 5
26681312 2016
18
Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants. 62 5
26951660 2016
19
MLH1 Ile219Val Polymorphism in Argentinean Families with Suspected Lynch Syndrome. 62 5
27606285 2016
20
Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patients. 62 5
26517685 2015
21
Milestones of Lynch syndrome: 1895-2015. 62 57
25673086 2015
22
Risk Factors Associated with Colorectal Cancer in a Subset of Patients with Mutations in MLH1 and MSH2 in Taiwan Fulfilling the Amsterdam II Criteria for Lynch Syndrome. 62 5
26053027 2015
23
High prevalence of mismatch repair deficiency in prostate cancers diagnosed in mismatch repair gene mutation carriers from the colon cancer family registry. 62 5
25117503 2014
24
Prostate cancer incidence in males with Lynch syndrome. 62 57
24434690 2014
25
Lynch Syndrome in high risk Ashkenazi Jews in Israel. 62 5
23990280 2014
26
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 62 5
24362816 2014
27
Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. 62 57
23639899 2013
28
Mutation spectrum in South American Lynch syndrome families. 62 5
24344984 2013
29
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. 62 5
23170986 2013
30
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 62 5
23709753 2013
31
Cancer risk in Lynch Syndrome. 62 5
23604856 2013
32
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome. 62 57
22948024 2013
33
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. 62 5
22781090 2013
34
Patients with Lynch syndrome mismatch repair gene mutations are at higher risk for not only upper tract urothelial cancer but also bladder cancer. 62 5
22883484 2013
35
Calibration of multiple in silico tools for predicting pathogenicity of mismatch repair gene missense substitutions. 62 5
22949387 2013
36
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 62 5
22949379 2013
37
A rapid and cell-free assay to test the activity of lynch syndrome-associated MSH2 and MSH6 missense variants. 62 5
22102614 2012
38
Characterization of germline mutations of MLH1 and MSH2 in unrelated south American suspected Lynch syndrome individuals. 62 5
21681552 2011
39
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 62 5
21642682 2011
40
Integrated analysis of unclassified variants in mismatch repair genes. 62 5
21239990 2011
41
Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. 62 5
21120944 2011
42
Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. 62 5
19731080 2010
43
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 62 5
20487569 2010
44
Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes. 62 5
20205264 2010
45
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. 62 57
19635727 2010
46
Risks of Lynch syndrome cancers for MSH6 mutation carriers. 62 5
20028993 2010
47
Risk of pancreatic cancer in families with Lynch syndrome. 62 57
19861671 2009
48
High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families. 62 5
19459153 2009
49
Review of the Lynch syndrome: history, molecular genetics, screening, differential diagnosis, and medicolegal ramifications. 62 5
19659756 2009
50
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 62 57
19419416 2009

Variations for Lynch Syndrome 1

ClinVar genetic disease variations for Lynch Syndrome 1:

5 (show top 50) (show all 712)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH2 NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu) SNV Pathogenic
1753 rs28929483 GRCh37: 2:47702269-47702269
GRCh38: 2:47475130-47475130
2 MSH2 MSH2, DEL 50 CODONS DEL Pathogenic
1754 GRCh37:
GRCh38:
3 MSH2 NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter) SNV Pathogenic
Pathogenic
1755 rs63751108 GRCh37: 2:47657020-47657020
GRCh38: 2:47429881-47429881
4 MSH2 NM_000251.3(MSH2):c.1915C>T (p.His639Tyr) SNV Pathogenic
1756 rs28929484 GRCh37: 2:47702319-47702319
GRCh38: 2:47475180-47475180
5 MSH2 NM_000251.3(MSH2):c.1786_1788del (p.Asn596del) DEL Pathogenic
1757 rs63749831 GRCh37: 2:47702190-47702192
GRCh38: 2:47475051-47475053
6 MSH2 NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro) SNV Pathogenic
1759 rs63751207 GRCh37: 2:47693857-47693857
GRCh38: 2:47466718-47466718
7 MSH2 NM_000251.3(MSH2):c.2113del (p.Val705fs) DEL Pathogenic
1760 rs63749811 GRCh37: 2:47703613-47703613
GRCh38: 2:47476474-47476474
8 MSH2 MSH2, 24-BP INS INSERT Pathogenic
1765 GRCh37:
GRCh38:
9 MSH2 NM_000251.1(MSH2):c.-4729_367-353del DEL Pathogenic
90492 GRCh37: 2:47625602-47636880
GRCh38: 2:47398463-47409741
10 MSH2 NM_000251.1(MSH2):c.-823_1076+5984del DEL Pathogenic
90496 GRCh37: 2:47629508-47649552
GRCh38: 2:47402369-47422413
11 MSH2 NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs) MICROSAT Pathogenic
90670 rs1114167806 GRCh37: 2:47690235-47690238
GRCh38: 2:47463096-47463099
12 MSH2 NM_000251.3(MSH2):c.942+3A>T SNV Pathogenic
36580 rs193922376 GRCh37: 2:47641560-47641560
GRCh38: 2:47414421-47414421
13 MSH2 MSH2, 32-KB DEL, EX1-6 DEL Pathogenic
1774 GRCh37: 2:47618487-47650860
GRCh38:
14 MSH2 NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA INDEL Pathogenic
41413 GRCh37: 2:47671507-47675022
GRCh38: 2:47444368-47447883
15 MSH2 NM_000251.2:c.1276+198_1386+3761del DEL Pathogenic
41414 GRCh37:
GRCh38:
16 MLH1 NM_000249.4(MLH1):c.121G>C (p.Asp41His) SNV Pathogenic
89682 rs267607713 GRCh37: 3:37038114-37038114
GRCh38: 3:36996623-36996623
17 MLH1 NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) SNV Pathogenic
89818 rs63750193 GRCh37: 3:37081767-37081767
GRCh38: 3:37040276-37040276
18 MLH1 NM_000249.4(MLH1):c.1A>G (p.Met1Val) SNV Pathogenic
89994 rs587778967 GRCh37: 3:37035039-37035039
GRCh38: 3:36993548-36993548
19 MLH1 NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) SNV Pathogenic
90133 rs63750266 GRCh37: 3:37042537-37042537
GRCh38: 3:37001046-37001046
20 MLH1 NM_000249.4(MLH1):c.2T>C (p.Met1Thr) SNV Pathogenic
90135 rs111052004 GRCh37: 3:37035040-37035040
GRCh38: 3:36993549-36993549
21 MLH1 NM_000249.4(MLH1):c.2T>G (p.Met1Arg) SNV Pathogenic
90136 rs111052004 GRCh37: 3:37035040-37035040
GRCh38: 3:36993549-36993549
22 MLH1 NM_000249.4(MLH1):c.306+1G>A SNV Pathogenic
90142 rs267607734 GRCh37: 3:37042545-37042545
GRCh38: 3:37001054-37001054
23 MLH1 NM_000249.4(MLH1):c.306+2dup DUP Pathogenic
90143 rs267607738 GRCh37: 3:37042545-37042546
GRCh38: 3:37001054-37001055
24 MLH1 NM_000249.4(MLH1):c.3G>A (p.Met1Ile) SNV Pathogenic
90211 rs72481822 GRCh37: 3:37035041-37035041
GRCh38: 3:36993550-36993550
25 MLH1 NM_000249.4(MLH1):c.62C>T (p.Ala21Val) SNV Pathogenic
90298 rs63750706 GRCh37: 3:37035100-37035100
GRCh38: 3:36993609-36993609
26 MLH1 NM_000249.4(MLH1):c.790+5G>T SNV Pathogenic
90364 rs267607771 GRCh37: 3:37056040-37056040
GRCh38: 3:37014549-37014549
27 MSH2 NM_000251.3(MSH2):c.1077-2A>C SNV Pathogenic
90528 rs267607943 GRCh37: 2:47656879-47656879
GRCh38: 2:47429740-47429740
28 MSH2 NM_000251.3(MSH2):c.1387-9T>A SNV Pathogenic
90648 rs587779087 GRCh37: 2:47690161-47690161
GRCh38: 2:47463022-47463022
29 MSH2 NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter) SNV Pathogenic
91028 rs63751469 GRCh37: 2:47709918-47709918
GRCh38: 2:47482779-47482779
30 MSH2 NM_000251.3(MSH2):c.2647del (p.Ile883fs) DEL Pathogenic
91030 rs63750084 GRCh37: 2:47709925-47709925
GRCh38: 2:47482786-47482786
31 MSH2 NM_000251.3(MSH2):c.2647dup (p.Ile883fs) DUP Pathogenic
91031 rs63750084 GRCh37: 2:47709924-47709925
GRCh38: 2:47482785-47482786
32 MSH2 NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter) SNV Pathogenic
91033 rs63750808 GRCh37: 2:47709936-47709936
GRCh38: 2:47482797-47482797
33 MSH2 NM_000251.3(MSH2):c.2662del (p.Leu888fs) DEL Pathogenic
91035 rs63751007 GRCh37: 2:47709944-47709944
GRCh38: 2:47482805-47482805
34 MSH2 NM_000251.3(MSH2):c.482T>A (p.Val161Asp) SNV Pathogenic
91104 rs63750126 GRCh37: 2:47637348-47637348
GRCh38: 2:47410209-47410209
35 MSH2 NM_000251.3(MSH2):c.488T>G (p.Val163Gly) SNV Pathogenic
91108 rs63750214 GRCh37: 2:47637354-47637354
GRCh38: 2:47410215-47410215
36 MSH2 NM_000251.3(MSH2):c.518T>G (p.Leu173Arg) SNV Pathogenic
91122 rs63750070 GRCh37: 2:47637384-47637384
GRCh38: 2:47410245-47410245
37 MSH2 NM_000251.3(MSH2):c.599T>A (p.Val200Asp) SNV Pathogenic
91148 rs587779167 GRCh37: 2:47637465-47637465
GRCh38: 2:47410326-47410326
38 MSH2 NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr) SNV Pathogenic
Not Provided
91273 rs63750828 GRCh37: 2:47643490-47643490
GRCh38: 2:47416351-47416351
39 MSH2 NM_000251.3(MSH2):c.388_389del (p.Gln130fs) DEL Pathogenic
91090 rs63750704 GRCh37: 2:47637254-47637255
GRCh38: 2:47410115-47410116
40 MLH1 NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs) MICROSAT Pathogenic
90073 rs63750971 GRCh37: 3:37092023-37092024
GRCh38: 3:37050532-37050533
41 MLH1 NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) SNV Pathogenic
90068 rs63751022 GRCh37: 3:37092014-37092014
GRCh38: 3:37050523-37050523
42 MSH2 NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter) SNV Pathogenic
91005 rs63750849 GRCh37: 2:47707955-47707955
GRCh38: 2:47480816-47480816
43 MSH2 NM_000251.3(MSH2):c.1271dup (p.His424fs) DUP Pathogenic
156506 rs587783055 GRCh37: 2:47657074-47657075
GRCh38: 2:47429935-47429936
44 MSH6 NM_000179.3(MSH6):c.426G>A (p.Trp142Ter) SNV Pathogenic
89519 rs63750342 GRCh37: 2:48018231-48018231
GRCh38: 2:47791092-47791092
45 MSH6 NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs) DEL Pathogenic
156507 rs587783056 GRCh37: 2:48026824-48026825
GRCh38: 2:47799685-47799686
46 PMS2 NM_000535.7(PMS2):c.1831dup (p.Ile611fs) DUP Pathogenic
91317 rs63750250 GRCh37: 7:6026564-6026565
GRCh38: 7:5986933-5986934
47 MSH6 NM_000179.3(MSH6):c.467C>G (p.Ser156Ter) SNV Pathogenic
89534 rs63749873 GRCh37: 2:48023042-48023042
GRCh38: 2:47795903-47795903
48 MSH6 NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) SNV Pathogenic
89352 rs63749843 GRCh37: 2:48030588-48030588
GRCh38: 2:47803449-47803449
49 PMS2 NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup DUP Pathogenic
219293 GRCh37:
GRCh38:
50 MLH1 NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly) SNV Pathogenic
219292 rs267607900 GRCh37: 3:37092136-37092136
GRCh38: 3:37050645-37050645

UniProtKB/Swiss-Prot genetic disease variations for Lynch Syndrome 1:

73 (show top 50) (show all 69)
# Symbol AA change Variation ID SNP ID
1 MSH2 p.His46Gln VAR_004470 rs33946261
2 MSH2 p.Asn139Ser VAR_004472 rs1553350676
3 MSH2 p.Asp167His VAR_004474 rs63750255
4 MSH2 p.Ala305Thr VAR_004476 rs63751454
5 MSH2 p.Arg524Pro VAR_004479 rs63751207
6 MSH2 p.Glu562Val VAR_004480 rs63750997
7 MSH2 p.Pro622Leu VAR_004482 rs28929483
8 MSH2 p.His639Tyr VAR_004483 rs28929484
9 MSH2 p.Gly674Ser VAR_004485 rs63750234
10 MSH2 p.Cys697Phe VAR_004486 rs63750398
11 MSH2 p.Ala834Thr VAR_004488 rs63750757
12 MSH2 p.Gly692Arg VAR_009250 rs63750232
13 MSH2 p.Cys697Arg VAR_009251 rs63750961
14 MSH2 p.Val161Asp VAR_012936 rs63750126
15 MSH2 p.Asp506Tyr VAR_012941 rs63750492
16 MSH2 p.Ala636Pro VAR_012944 rs63750875
17 MSH2 p.Met688Ile VAR_012945 rs63750790
18 MSH2 p.Lys845Glu VAR_013172 rs63750571
19 MSH2 p.Asn127Ser VAR_019234 rs17217772
20 MSH2 p.Val163Gly VAR_022670 rs63750214
21 MSH2 p.Asp660Gly VAR_022671 rs1085308057
22 MSH2 p.Thr33Pro VAR_043738 rs63751107
23 MSH2 p.Leu93Phe VAR_043743 rs63751429
24 MSH2 p.Val102Ile VAR_043745 rs193922373
25 MSH2 p.Lys110Thr VAR_043746
26 MSH2 p.Gly162Arg VAR_043747 rs63750624
27 MSH2 p.Val163Asp VAR_043748 rs63750214
28 MSH2 p.Gly164Arg VAR_043749 rs63750582
29 MSH2 p.Leu173Pro VAR_043751 rs63750070
30 MSH2 p.Leu175Pro VAR_043752 rs63751291
31 MSH2 p.Leu187Pro VAR_043753 rs63751444
32 MSH2 p.Asp283Tyr VAR_043757 rs63750381
33 MSH2 p.Cys333Tyr VAR_043759 rs63750828
34 MSH2 p.Pro336Ser VAR_043761 rs63751062
35 MSH2 p.Pro349Leu VAR_043763 rs587779067
36 MSH2 p.Arg359Ser VAR_043764 rs63751617
37 MSH2 p.Lys393Met VAR_043765 rs1558478490
38 MSH2 p.Met492Val VAR_043767
39 MSH2 p.Thr552Pro VAR_043768 rs63750838
40 MSH2 p.Asn583Ser VAR_043770 rs201118107
41 MSH2 p.Ala600Val VAR_043771 rs63751236
42 MSH2 p.Asp603Asn VAR_043772 rs63750657
43 MSH2 p.His639Arg VAR_043775 rs587779116
44 MSH2 p.Glu647Lys VAR_043776
45 MSH2 p.Tyr656His VAR_043777 rs1573567393
46 MSH2 p.Ile679Thr VAR_043779
47 MSH2 p.Ser723Phe VAR_043781 rs63750794
48 MSH2 p.Met729Val VAR_043782 rs1558520059
49 MSH2 p.Thr732Ile VAR_043783 rs730881765
50 MSH2 p.Glu749Lys VAR_043785 rs63751477

Expression for Lynch Syndrome 1

Search GEO for disease gene expression data for Lynch Syndrome 1.

Pathways for Lynch Syndrome 1

Pathways related to Lynch Syndrome 1 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13 ATM CHEK2 MLH1 MSH2 MSH6 PALB2
2
Show member pathways
12.78 ATM CHEK2 MLH1 MSH2 PMS2 RAD51D
3
Show member pathways
12.72 MSH6 MSH2 MLH1 CHEK2 ATM
4
Show member pathways
12.41 MSH6 MSH2 CHEK2 ATM
5
Show member pathways
12.4 PMS2 PALB2 MSH6 MSH2 MLH1 ATM
6
Show member pathways
12.35 RAD51D PMS2 PALB2 MSH6 MSH2 MLH1
7 12.27 TFCP2 MSH6 MSH2 MLH1 CHEK2 ATM
8
Show member pathways
12.26 PMS2 PMS1 MSH6 MSH2 MLH1
9 11.96 MSH6 MSH2 CHEK2 ATM
10 11.84 PMS2 MSH2 MLH1
11
Show member pathways
11.65 MSH6 MSH2 CHEK2 ATM
12
Show member pathways
11.35 MSH2 MLH1 CHEK2
13 11.14 MSH6 MSH2 CHEK2 ATM
14 10.93 CHEK2 ATM
15 10.93 PALB2 MSH2 MLH1 CHEK2 ATM
16 10.72 PMS2 MSH6 MSH2 MLH1
17 10.31 CHEK2 ATM
18
Show member pathways
10.11 PMS2 MLH1

GO Terms for Lynch Syndrome 1

Cellular components related to Lynch Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome, telomeric region GO:0000781 9.86 RAD51D MSH2 CHEK2 ATM
2 MutLalpha complex GO:0032389 9.46 PMS2 MLH1
3 MutSalpha complex GO:0032301 9.26 MSH6 MSH2
4 mismatch repair complex GO:0032300 9.17 PMS2 PMS1 MSH2 MLH1

Biological processes related to Lynch Syndrome 1 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.97 ATM CHEK2 MLH1 MSH2 MSH6
2 determination of adult lifespan GO:0008340 9.93 MSH6 MSH2 ATM
3 isotype switching GO:0045190 9.91 MSH6 MSH2 MLH1
4 signal transduction in response to DNA damage GO:0006975 9.89 CHEK2 ATM
5 signal transduction in response to DNA damage GO:0042770 9.89 CHEK2 ATM
6 reciprocal meiotic recombination GO:0007131 9.88 ATM MLH1 RAD51D
7 positive regulation of isotype switching to IgG isotypes GO:0048304 9.86 MSH2 MLH1
8 somatic hypermutation of immunoglobulin genes GO:0016446 9.86 PMS2 MSH6 MSH2 MLH1
9 meiotic telomere clustering GO:0045141 9.85 MLH1 ATM
10 mismatch repair GO:0006298 9.85 PMS2 PMS1 MSH6 MSH2 MLH1
11 positive regulation of helicase activity GO:0051096 9.84 MSH6 MSH2
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.83 MSH2 MLH1
13 somatic recombination of immunoglobulin gene segments GO:0016447 9.77 MSH6 MSH2 MLH1
14 DNA repair GO:0006281 9.73 ATM CHEK2 MLH1 MSH2 MSH6 PALB2
15 maintenance of DNA repeat elements GO:0043570 9.69 MSH6 MSH2
16 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.58 MSH2 MLH1
17 cellular response to DNA damage stimulus GO:0006974 9.44 RAD51D PMS2 PMS1 PALB2 MSH6 MSH2

Molecular functions related to Lynch Syndrome 1 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 10.46 ATM CHEK2 MLH1 MORC2 MSH2 MSH6
2 ATP hydrolysis activity GO:0016887 10.22 PMS2 PMS1 MSH2 MORC2 MLH1
3 single-stranded DNA binding GO:0003697 10.03 MLH1 MSH2 PMS2 RAD51D
4 ATP-dependent activity, acting on DNA GO:0008094 9.88 RAD51D MSH6 MSH2
5 MutSalpha complex binding GO:0032407 9.8 PMS2 MLH1
6 MutLalpha complex binding GO:0032405 9.78 MSH6 MSH2
7 oxidized purine DNA binding GO:0032357 9.76 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.73 RAD51D MSH6 MSH2
9 single guanine insertion binding GO:0032142 9.67 MSH6 MSH2
10 guanine/thymine mispair binding GO:0032137 9.63 MLH1 MSH2 MSH6
11 single thymine insertion binding GO:0032143 9.62 MSH6 MSH2
12 mismatched DNA binding GO:0030983 9.56 PMS2 PMS1 MSH6 MSH2 MLH1
13 ATP-dependent DNA damage sensor activity GO:0140664 9.4 RAD51D PMS2 PMS1 MSH6 MSH2 MLH1

Sources for Lynch Syndrome 1

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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