HNPCC1
MCID: LYN004
MIFTS: 59

Lynch Syndrome I (HNPCC1)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Lynch Syndrome I

MalaCards integrated aliases for Lynch Syndrome I:

Name: Lynch Syndrome I 56 29 54 6
Colorectal Cancer, Hereditary Nonpolyposis, Type 1 56 13 71
Hnpcc1 56 12 73
Colorectal Cancer, Hereditary, Nonpolyposis, Type 1 29 6
Lynch Syndrome 1 12 15
Fcc1 56 12
Colorectal Cancer, Hereditary Nonpolyposis, Type 1; Hnpcc1 56
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 1 39
Colorectal Cancer, Hereditary Nonpolyposis, Type 3 71
Colon Cancer, Familial Nonpolyposis, Type 1; Fcc1 56
Hereditary Nonpolyposis Colorectal Cancer Type 1 12
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 56
Familial Nonpolyposis Colon Cancer Type 1 12
Hereditary Nonpolyposis Colorectal Cancer 71
Lynch Cancer Family Syndrome 73
Lynch Syndrome Type Ii 73
Lynch Syndrome Type I 73
Lynch Syndrome 73
Hnpcc3 73
Coca1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
lynch syndrome i:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070271
OMIM 56 120435
OMIM Phenotypic Series 56 PS120435
MeSH 43 D003123
SNOMED-CT via HPO 68 263681008 363406005
UMLS 71 C1333990 C1333991 C2936783 more

Summaries for Lynch Syndrome I

UniProtKB/Swiss-Prot : 73 Hereditary non-polyposis colorectal cancer 1: 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 I, also known as colorectal cancer, hereditary nonpolyposis, type 1, is related to mismatch repair cancer syndrome and colorectal cancer, hereditary nonpolyposis, type 4. An important gene associated with Lynch Syndrome I is MSH2 (MutS Homolog 2), and among its related pathways/superpathways are Direct p53 effectors and Mismatch repair. The drugs Aspirin and Fluorouracil have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and small intestine, and related phenotypes are colon cancer and Increased viability with MLN4924 (a NAE inhibitor)

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16.

OMIM : 56 Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see 608089), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series. Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer. The minimum criterion of HNPCC is that colorectal carcinoma is diagnosed and histologically verified in at least 3 relatives belonging to 2 or more successive generations. Moreover, the age of onset should be less than 50 years in at least 1 patient. The Muir-Torre syndrome (MRTES; 158320) is a form of Lynch syndrome II associated with sebaceous skin tumors. (120435)

Wikipedia : 74 Hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch syndrome is an autosomal dominant genetic... more...

Related Diseases for Lynch Syndrome I

Diseases in the Lynch Syndrome family:

Lynch Syndrome I

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

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 mismatch repair cancer syndrome 33.2 PMS2 PMS1 MSH6 MSH2 MLH1
2 colorectal cancer, hereditary nonpolyposis, type 4 33.0 PMS2 PMS1 MLH1
3 muir-torre syndrome 32.8 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
4 colorectal cancer, hereditary nonpolyposis, type 6 32.7 PMS2 PMS1 MSH6 MSH2 MLH1
5 colorectal cancer, hereditary nonpolyposis, type 2 32.5 USHBP1 MLH1 MCC AGBL5 AGBL4
6 colorectal cancer, hereditary nonpolyposis, type 5 32.5 PMS2 MSH6 MSH2 MLH1
7 familial adenomatous polyposis 31.1 PMS1 MSH6 MSH2 MLH1 MCC
8 colorectal adenocarcinoma 31.0 PMS2 MSH6 MSH2 MLH1
9 endometrial hyperplasia 30.9 MSH6 MSH2 MLH1
10 ascending colon cancer 30.8 MSH2 MLH1
11 jejunal adenocarcinoma 30.7 MSH6 MLH1
12 hereditary breast ovarian cancer syndrome 30.6 RAD51D PMS2 MSH6 MSH2 MLH1 EPCAM
13 sebaceous adenoma 30.5 PMS2 MSH6 MSH2 MLH1
14 small intestine adenocarcinoma 30.5 PMS2 MSH6 MSH2 MLH1
15 spindle cell intraocular melanoma 30.5 PMS2 MLH1
16 lynch syndrome 30.5 RAD51L3-RFFL RAD51D PMS2 PMS1 MSH6 MSH2
17 rectum adenocarcinoma 30.5 PMS2 MSH6 MSH2 MLH1
18 attenuated familial adenomatous polyposis 30.5 MSH6 MSH2
19 li-fraumeni syndrome 30.5 RAD51D PMS2 MSH6 MSH2 MLH1
20 sebaceous adenocarcinoma 30.3 PMS2 PMS1 MSH6 MSH2 MLH1
21 rectum cancer 30.3 MSH6 MSH2 MLH1
22 jejunal cancer 30.3 PMS2 MSH6 MSH2 MLH1
23 duodenum adenocarcinoma 30.3 PMS2 MSH6 MSH2 MLH1
24 endometrioid ovary carcinoma 30.3 PMS2 MSH6 MSH2 MLH1
25 juvenile polyposis syndrome 30.3 PMS2 MSH6 MSH2 MLH1
26 colon adenocarcinoma 30.2 PMS2 MSH6 MLH1 EPCAM
27 oligodendroglioma 30.2 PMS2 MSH6 MSH2 MLH1
28 cowden syndrome 29.8 RAD51D PMS2 PMS1 MSH6 MSH2 MLH1
29 ovarian cancer 11.7
30 colorectal cancer, hereditary nonpolyposis, type 8 11.5
31 colorectal cancer, hereditary nonpolyposis, type 7 11.5
32 pancreatic cancer 11.5
33 gastric cancer 11.3
34 adenoma 10.7
35 familial colorectal cancer 10.6
36 colorectal adenoma 10.5
37 periampullary adenoma 10.5 PMS2 MSH6
38 renal pelvis transitional cell carcinoma 10.5 MSH6 MSH2 MLH1
39 cervical adenoma malignum 10.5 MSH6 MSH2 MLH1
40 autosomal dominant non-syndromic intellectual disability 8 10.5 MSH6 MSH2 MLH1
41 mental retardation, autosomal dominant 20 10.5 MSH6 MSH2 MLH1
42 breast-ovarian cancer, familial 4 10.5 RAD51L3-RFFL RAD51D
43 dysplastic nevus syndrome 10.5 MSH6 MSH2 MLH1
44 lower lip cancer 10.5 MSH2 MLH1
45 skin benign neoplasm 10.4 MSH6 MSH2 MLH1
46 adenosquamous colon carcinoma 10.4 PMS2 MSH6 MSH2 MLH1
47 extrahepatic bile duct adenoma 10.4 PMS2 MSH6 MSH2 MLH1
48 appendix carcinoid tumor 10.4 PMS2 MSH6 MSH2 MLH1
49 rectum signet ring adenocarcinoma 10.4 PMS2 PMS1 MSH2 MLH1
50 female reproductive endometrioid cancer 10.4 PMS2 MSH6 MSH2 MLH1

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



Diseases related to Lynch Syndrome I

Symptoms & Phenotypes for Lynch Syndrome I

Human phenotypes related to Lynch Syndrome I:

31
# Description HPO Frequency HPO Source Accession
1 colon cancer 31 HP:0003003

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
nonpolyposis colon cancer

Clinical features from OMIM:

120435

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 MSH6 PMS1 PMS2 RAD51D

Drugs & Therapeutics for Lynch Syndrome I

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
2
Fluorouracil Approved Phase 3 51-21-8 3385
3
Levonorgestrel Approved, Investigational Phase 3 17489-40-6, 797-63-7 13109
4 Acetylsalicylic acid lysinate Phase 3
5 Fibrinolytic Agents Phase 3
6 Platelet Aggregation Inhibitors Phase 3
7 Antipyretics Phase 3
8 Cyclooxygenase Inhibitors Phase 3
9 Cola Phase 3
10 Contraceptives, Oral Phase 3
11 Contraceptive Agents Phase 3
12
Paclitaxel Approved, Vet_approved Phase 2 33069-62-4 36314
13
Carboplatin Approved Phase 2 41575-94-4 10339178 498142 38904
14
Trastuzumab Approved, Investigational Phase 2 180288-69-1 9903
15
nivolumab Approved Phase 2 946414-94-4
16
Aminosalicylic Acid Approved Phase 2 65-49-6 4649
17 Omega 3 Fatty Acid Phase 2
18 Antimitotic Agents Phase 2
19 Albumin-Bound Paclitaxel Phase 2
20 Vaccines Phase 1, Phase 2
21 Immunologic Factors Phase 1, Phase 2
22 Antineoplastic Agents, Immunological Phase 2
23 Anti-Inflammatory Agents, Non-Steroidal Phase 2
24 Analgesics, Non-Narcotic Phase 2
25 Analgesics Phase 2
26 Antirheumatic Agents Phase 2
27 Anti-Inflammatory Agents Phase 2
28 Anti-Infective Agents Phase 2
29 Mesalamine Phase 2 89-57-6
30 Anti-Bacterial Agents Phase 2
31 Antitubercular Agents Phase 2
32
Bevacizumab Approved, Investigational Phase 1 216974-75-3
33
Naproxen Approved, Vet_approved Phase 1 22204-53-1 1302 156391
34 Angiogenesis Inhibitors Phase 1
35 Mitogens Phase 1
36 Endothelial Growth Factors Phase 1
37
Caffeine Approved 58-08-2 2519
38
Pancrelipase Approved, Investigational 53608-75-6
39
Secretin Approved 108153-74-8
40
Sage Approved
41 Antibodies
42 Immunoglobulins
43 Gastrointestinal Agents
44 pancreatin
45 Hormone Antagonists
46 Hormones
47
Serine Investigational, Nutraceutical 56-45-1 5951

Interventional clinical trials:

(show top 50) (show all 76)
# 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 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
3 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
4 Prevention of Endometrial Tumors (POET) Terminated NCT00566644 Phase 3
5 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
6 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
7 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)
8 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
9 Dendritic Cell Vaccination in Patients With Lynch Syndrome or Colorectal Cancer With MSI Active, not recruiting NCT01885702 Phase 1, Phase 2
10 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
11 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
12 Mesalamine for Colorectal Cancer Prevention Program in Lynch Syndrome - MesaCAPP Terminated NCT03070574 Phase 2 mesalamine 2400 MG (5-ASA);mesalamine 1200 MG
13 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
14 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
15 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
16 Establishing Effective Screening Methods for Diagnosing Hereditary Nonpolypoisis Colorectal Cancer Unknown status NCT00516230
17 Personalized Prostate Cancer Screening Among Men With High Risk Genetic Predisposition- a Prospective Cohort Study Unknown status NCT02053805
18 Systemic Screening of Germline Cancer Gene Mutation for Colorectal Cancer in China: A Prospective and Multi-center Study Unknown status NCT03365986
19 Prognostic Impact of Immunohistochemical and Molecular Expression of the Endocytosis Receptor LRP1 in Colonic Adenocarcinomas Unknown status NCT02788669
20 Capsule Endoscopy in Lynch Syndrome for Small Intestinal Tumor Screening Completed NCT00898768 Early Phase 1
21 Chromoendoscopy in Lynch Syndrome Patients Completed NCT00905710
22 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
23 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
24 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
25 A Prospective Study Of The Prognostic Significance Of Microsatellite Instability In Patients With Early Age-Of-Onset Colorectal Cancer Completed NCT00044967
26 Molecular Screening for Lynch Syndrome in Southern Denmark Completed NCT01216930
27 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
28 High Definition White-Light Colonoscopy Versus Chromoendoscopy for Surveillance of Lynch Syndrome. A Prospective, Multicenter and Randomized Study Completed NCT02951390
29 Comparison of Colonoscopy With Virtual Chromoendoscopy Using 3rd Generation NBI System to Chromoendoscopy With Indigo Carmine in Lynch Patients. Completed NCT02570516
30 Hereditary Colorectal and Associated Tumor Registry Study Completed NCT00633607
31 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
32 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
33 Ohio Colorectal Cancer Prevention Initiative: Universal Screening for Lynch Syndrome Completed NCT01850654
34 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
35 Oligogenic Determinism of Colorectal Cancer Completed NCT01057953
36 University of Southern California (USC) Norris Comprehensive Cancer Center and Stanford Cancer Institute Cancer Genetics Hereditary Cancer Panel Testing Completed NCT02324062
37 Prognostic Impact of the Endocytic Receptor LRP-1 Gene Promoter Methylation in a Retrospective Study of Colonic Adenocarcinomas Completed NCT02786602
38 Screening for Gastric Cancer in High-risk Population Completed NCT00815113
39 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
40 Familial Colorectal Cancer In Puerto Rico: A Feasibility Study Recruiting NCT00927680
41 Metagenomic Evaluation of the Gut Microbiome in Patients With Lynch Syndrome and Other Hereditary Colonic Polyposis Syndromes Recruiting NCT02371135
42 A Compare of Microsatellite Instability in Circulatory DNA and Tumor Tissue of Endometrial Cancer Recruiting NCT03744962
43 Adherence to Comprehensive, Multi-Organ Screening Recommendations in Patients With Lynch Syndrome Recruiting NCT00582296
44 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. Recruiting NCT03344289
45 The GEOLynch Cohort Study: Genetic, Environmental and Other Factors That Influence Tumour Risk Among Persons With Lynch Syndrome Recruiting NCT03303833
46 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
47 Italian Registry of Families At Risk of Pancreatic Cancer Recruiting NCT04095195
48 HEALTH4Families: Optimizing a Weight Management and Health Behavior Intervention for BRCA+ and Lynch Syndrome Families Recruiting NCT04125914
49 Analysing Outcomes After Prostate Cancer Diagnosis and Treatment in Carriers of Rare Germline Mutation in Cancer Predisposition Genes Recruiting NCT02705846
50 Risk-Reducing Surgeries of Salpingo-oophorectomy With/Without Hysterectomy for Carriers With Mutation Genes of Hereditary Ovarian Cancer Recruiting NCT03294343

Search NIH Clinical Center for Lynch Syndrome I

Genetic Tests for Lynch Syndrome I

Genetic tests related to Lynch Syndrome I:

# Genetic test Affiliating Genes
1 Lynch Syndrome I 29 MSH2 PMS1
2 Colorectal Cancer, Hereditary, Nonpolyposis, Type 1 29

Anatomical Context for Lynch Syndrome I

MalaCards organs/tissues related to Lynch Syndrome I:

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

Publications for Lynch Syndrome I

Articles related to Lynch Syndrome I:

(show top 50) (show all 194)
# Title Authors PMID Year
1
Germ line MLH1 and MSH2 mutations in Taiwanese Lynch syndrome families: characterization of a founder genomic mutation in the MLH1 gene. 56 6
19419416 2009
2
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 6 56
17250661 2007
3
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). 56 6
15942939 2005
4
Spectrum of genetic alterations in Muir-Torre syndrome is the same as in HNPCC. 6 56
14994245 2004
5
A founder mutation of the MSH2 gene and hereditary nonpolyposis colorectal cancer in the United States. 56 6
14871915 2004
6
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. 6 56
12658575 2003
7
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 56 6
11524701 2001
8
Conversion of diploidy to haploidy. 6 56
10693791 2000
9
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. 6 56
8261515 1993
10
Genetic mapping of a locus predisposing to human colorectal cancer. 6 56
8484120 1993
11
Constitutive deficiency in DNA mismatch repair. 61 56
17539897 2007
12
Constitutive deficiency in DNA mismatch repair: is it time for Lynch III? 56 61
17539898 2007
13
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I & II). Genetics, pathology, natural history, and cancer control, Part I. 61 56
1648437 1991
14
Hereditary nonpolyposis colorectal cancer (Lynch syndromes I and II). II. Biomarker studies. 56 61
4016686 1985
15
Genetic diversity of tumors with mismatch repair deficiency influences anti-PD-1 immunotherapy response. 56
31048490 2019
16
Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. 56
28596308 2017
17
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
18
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 6
25711197 2015
19
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
20
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
21
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
22
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. 6
25452455 2015
23
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 6
25003300 2014
24
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 6
25070057 2014
25
Prostate cancer incidence in males with Lynch syndrome. 56
24434690 2014
26
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
27
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 6
24310308 2014
28
Underutilization of Lynch syndrome screening in a multisite study of patients with colorectal cancer. 56
23639899 2013
29
The MSH2 c.388_389del mutation shows a founder effect in Portuguese Lynch syndrome families. 6
23170986 2013
30
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
31
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 6
23408351 2013
32
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 6
23535968 2013
33
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome. 56
22948024 2013
34
Cancer risks for MLH1 and MSH2 mutation carriers. 56
23255516 2013
35
A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin. 6
22781090 2013
36
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. 6
22167527 2012
37
Expression of a mutant HSP110 sensitizes colorectal cancer cells to chemotherapy and improves disease prognosis. 56
21946539 2011
38
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 56
20587412 2010
39
Risk of urothelial bladder cancer in Lynch syndrome is increased, in particular among MSH2 mutation carriers. 56
20591884 2010
40
Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours. 56
19955118 2010
41
Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds. 56
19635727 2010
42
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
43
Risk of pancreatic cancer in families with Lynch syndrome. 56
19861671 2009
44
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 6
19120036 2009
45
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2. 6
18781192 2009
46
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 6
19101824 2009
47
Effect of aspirin or resistant starch on colorectal neoplasia in the Lynch syndrome. 56
19073976 2008
48
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 6
18772310 2008
49
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 6
18759827 2008
50
Colorectal cancer in HNPCC: cumulative lifetime incidence, survival and tumour distribution. A report of 121 families with proven mutations. 56
18554281 2008

Variations for Lynch Syndrome I

ClinVar genetic disease variations for Lynch Syndrome I:

6 (show top 50) (show all 428) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MSH2 NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu)SNV Pathogenic 1753 rs28929483 2:47702269-47702269 2:47475130-47475130
2 MSH2 MSH2, DEL 50 CODONSdeletion Pathogenic 1754
3 MSH2 NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter)SNV Pathogenic 1755 rs63751108 2:47657020-47657020 2:47429881-47429881
4 MSH2 NM_000251.2(MSH2):c.1915C>T (p.His639Tyr)SNV Pathogenic 1756 rs28929484 2:47702319-47702319 2:47475180-47475180
5 MSH2 NM_000251.2(MSH2):c.1786_1788del (p.Asn596del)deletion Pathogenic 1757 rs63749831 2:47702190-47702192 2:47475051-47475053
6 MSH2 NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro)SNV Pathogenic 1764 rs63750875 2:47702310-47702310 2:47475171-47475171
7 MSH2 MSH2, 24-BP INSinsertion Pathogenic 1765
8 MSH2 MSH2, EX1-6 DELdeletion Pathogenic 1767
9 MSH2 nsv513794deletion Pathogenic 1769
10 MSH2 MSH2, 32-KB DEL, EX1-6deletion Pathogenic 1774
11 MLH1 NM_000249.3(MLH1):c.350C>T (p.Thr117Met)SNV Pathogenic 17094 rs63750781 3:37045935-37045935 3:37004444-37004444
12 MSH2 MSH2, 3.5-KB DEL AND 15-BP INSindel Pathogenic 41413
13 MSH2 MSH2, 19.28-KB DELdeletion Pathogenic 41414
14 MSH2 NM_000251.2(MSH2):c.2113del (p.Val705fs)deletion Pathogenic 1760 rs63749811 2:47703613-47703613 2:47476474-47476474
15 MLH1 NM_000249.3(MLH1):c.3G>A (p.Met1Ile)SNV Pathogenic 90211 rs72481822 3:37035041-37035041 3:36993550-36993550
16 MLH1 NM_000249.3(MLH1):c.55A>T (p.Ile19Phe)SNV Pathogenic 90274 rs63750648 3:37035093-37035093 3:36993602-36993602
17 MLH1 NM_000249.3(MLH1):c.790+5G>TSNV Pathogenic 90364 rs267607771 3:37056040-37056040 3:37014549-37014549
18 MSH2 NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs)deletion Pathogenic 90577 rs63750086 2:47657030-47657031 2:47429891-47429892
19 MSH2 NM_000251.2(MSH2):c.1387-9T>ASNV Pathogenic 90648 rs587779087 2:47690161-47690161 2:47463022-47463022
20 MSH2 NM_000251.2(MSH2):c.142G>T (p.Glu48Ter)SNV Pathogenic 90662 rs63750615 2:47630472-47630472 2:47403333-47403333
21 MSH2 NM_000251.2(MSH2):c.1457_1460delATGAshort repeat Pathogenic 90670 rs1114167806 2:47690240-47690243 2:47463101-47463104
22 MSH2 NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr)SNV Pathogenic 91273 rs63750828 2:47643490-47643490 2:47416351-47416351
23 PMS2 NM_000535.7(PMS2):c.1831dup (p.Ile611fs)duplication Pathogenic 91317 rs63750250 7:6026565-6026565 7:5986934-5986934
24 MSH6 NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile)SNV Pathogenic 141058 rs587781462 2:48027422-48027422 2:47800283-47800283
25 MSH2 NM_000251.2(MSH2):c.1271dup (p.His424fs)duplication Pathogenic 156506 rs587783055 2:47657075-47657075 2:47429936-47429936
26 MSH6 NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs)deletion Pathogenic 156507 rs587783056 2:48026827-48026828 2:47799688-47799689
27 MSH2 NM_000251.2(MSH2):c.905T>A (p.Leu302Ter)SNV Pathogenic 91242 rs63749914 2:47641520-47641520 2:47414381-47414381
28 MSH2 NM_000251.2(MSH2):c.868G>T (p.Glu290Ter)SNV Pathogenic 91235 rs587779190 2:47641483-47641483 2:47414344-47414344
29 MSH2 NM_000251.2(MSH2):c.811_814del (p.Ser271fs)deletion Pathogenic 91222 rs587779185 2:47641426-47641429 2:47414287-47414290
30 MSH2 NM_000251.2(MSH2):c.715C>T (p.Gln239Ter)SNV Pathogenic 91185 rs63750488 2:47639622-47639622 2:47412483-47412483
31 MSH2 NM_000251.2(MSH2):c.599T>A (p.Val200Asp)SNV Pathogenic 91148 rs587779167 2:47637465-47637465 2:47410326-47410326
32 MSH2 NM_000251.2(MSH2):c.488T>G (p.Val163Gly)SNV Pathogenic 91108 rs63750214 2:47637354-47637354 2:47410215-47410215
33 MSH2 NM_000251.2(MSH2):c.484G>A (p.Gly162Arg)SNV Pathogenic 91105 rs63750624 2:47637350-47637350 2:47410211-47410211
34 MSH2 NM_000251.2(MSH2):c.482T>A (p.Val161Asp)SNV Pathogenic 91104 rs63750126 2:47637348-47637348 2:47410209-47410209
35 MSH2 NM_000251.2(MSH2):c.518T>G (p.Leu173Arg)SNV Pathogenic 91122 rs63750070 2:47637384-47637384 2:47410245-47410245
36 MSH2 NM_000251.2(MSH2):c.388_389del (p.Gln130fs)deletion Pathogenic 91090 rs63750704 2:47637254-47637255 2:47410115-47410116
37 MSH2 NM_000251.2(MSH2):c.289C>T (p.Gln97Ter)SNV Pathogenic 91054 rs63750970 2:47635617-47635617 2:47408478-47408478
38 MSH2 NM_000251.2(MSH2):c.2662del (p.Leu888fs)deletion Pathogenic 91035 rs63751007 2:47709945-47709945 2:47482806-47482806
39 MSH2 NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter)SNV Pathogenic 91033 rs63750808 2:47709936-47709936 2:47482797-47482797
40 MSH2 NM_000251.2(MSH2):c.2647dup (p.Ile883fs)duplication Pathogenic 91031 rs63750084 2:47709930-47709930 2:47482791-47482791
41 MSH2 NM_000251.2(MSH2):c.2647del (p.Ile883fs)deletion Pathogenic 91030 rs63750084 2:47709930-47709930 2:47482791-47482791
42 MSH2 NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter)SNV Pathogenic 91028 rs63751469 2:47709918-47709918 2:47482779-47482779
43 MSH2 NM_000251.2(MSH2):c.2633_2634delAGshort repeat Pathogenic 91015 rs63751618 2:47708009-47708010 2:47480870-47480871
44 MSH2 NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter)SNV Pathogenic 91005 rs63750849 2:47707955-47707955 2:47480816-47480816
45 MSH2 NM_001258281.1(MSH2):c.2325_2326AG[1] (p.Glu776fs)short repeat Pathogenic 90993 rs587779148 2:47707901-47707902 2:47480762-47480763
46 MSH2 NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter)SNV Pathogenic 90956 rs63750618 2:47705534-47705534 2:47478395-47478395
47 MSH2 NM_000251.2(MSH2):c.2131C>T (p.Arg711Ter)SNV Pathogenic 90903 rs63750636 2:47703631-47703631 2:47476492-47476492
48 MSH2 NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter)SNV Pathogenic 90933 rs63751155 2:47705428-47705428 2:47478289-47478289
49 MSH2 NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter)SNV Pathogenic 90804 rs63750508 2:47702265-47702265 2:47475126-47475126
50 MSH2 NM_000251.2(MSH2):c.1203dup (p.Gln402fs)duplication Pathogenic 90564 rs63750586 2:47657007-47657007 2:47429868-47429868

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

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 rs155335067
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 rs108530805
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
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
46 MSH2 p.Ile679Thr VAR_043779
47 MSH2 p.Ser723Phe VAR_043781 rs63750794
48 MSH2 p.Met729Val VAR_043782
49 MSH2 p.Thr732Ile VAR_043783
50 MSH2 p.Glu749Lys VAR_043785 rs63751477

Cosmic variations for Lynch Syndrome I:

9 (show top 50) (show all 4941)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM149314765 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9829C>T p.P3277S 16:72788447-72788447 6
2 COSM149282136 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8029G>A p.E2677K 16:72794653-72794653 6
3 COSM149268190 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5645T>A p.I1882N 16:72797037-72797037 6
4 COSM149297301 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9812C>T p.T3271M 16:72788464-72788464 6
5 COSM149321603 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.9964C>T p.Q3322* 16:72788312-72788312 6
6 COSM149265910 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.8849G>A p.R2950H 16:72793833-72793833 6
7 COSM149304877 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4880C>T p.A1627V 16:72797802-72797802 6
8 COSM149298321 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6608G>A p.R2203H 16:72796074-72796074 6
9 COSM149319996 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.D51N 16:72959995-72959995 6
10 COSM149306658 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10573G>A p.G3525S 16:72787703-72787703 6
11 COSM149304885 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.4817G>A p.S1606N 16:72797865-72797865 6
12 COSM149283576 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.6910C>T p.Q2304* 16:72795772-72795772 6
13 COSM149290589 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10826C>T p.S3609F 16:72787450-72787450 6
14 COSM149319982 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.7253C>T p.T2418I 16:72795429-72795429 6
15 COSM149304868 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.5886G>T p.E1962D 16:72796796-72796796 6
16 COSM149268207 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.308G>A p.R103H 16:72959838-72959838 6
17 COSM149304853 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10403G>A p.R3468H 16:72787873-72787873 6
18 COSM149278204 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.2230C>T p.H744Y 16:72957916-72957916 6
19 COSM149301339 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.49G>A p.G17S 16:72960097-72960097 6
20 COSM149319969 ZFHX3 urinary tract,upper urinary tract,carcinoma,NS c.10015G>C p.E3339Q 16:72788261-72788261 6
21 COSM143037377 YAP1 urinary tract,upper urinary tract,carcinoma,NS c.1260C>A p.F420L 11:102227553-102227553 6
22 COSM97252210 XRCC2 urinary tract,upper urinary tract,carcinoma,NS c.151G>A p.G51R 7:152649334-152649334 6
23 COSM101975701 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1711G>A p.E571K 2:61492337-61492337 6
24 COSM101976237 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.1525C>T p.H509Y 2:61492608-61492608 6
25 COSM101979165 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2785G>A p.V929I 2:61482984-61482984 6
26 COSM101978172 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.511C>A p.L171I 2:61499792-61499792 6
27 COSM101977380 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.3144G>T p.E1048D 2:61478892-61478892 6
28 COSM101981172 XPO1 urinary tract,upper urinary tract,carcinoma,NS c.2668G>A p.A890T 2:61483946-61483946 6
29 COSM94290922 XIAP urinary tract,upper urinary tract,carcinoma,NS c.1003G>T p.G335* 23:123891263-123891263 6
30 COSM91378156 WT1 urinary tract,upper urinary tract,carcinoma,NS c.467G>A p.C156Y 11:32434879-32434879 6
31 COSM97137682 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.1046C>T p.A349V 6:43780815-43780815 6
32 COSM97137200 VEGFA urinary tract,upper urinary tract,carcinoma,NS c.973C>T p.R325* 6:43780742-43780742 6
33 COSM85193084 U2AF1 urinary tract,upper urinary tract,carcinoma,NS c.101C>T p.S34F 21:43104346-43104346 6
34 COSM131091287 TSHR urinary tract,upper urinary tract,carcinoma,NS c.1538C>T p.T513M 14:81143596-81143596 6
35 COSM87027100 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.745G>A p.V249I 16:2056740-2056740 6
36 COSM87034639 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4805A>G p.E1602G 16:2086335-2086335 6
37 COSM87028837 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.4136C>T p.S1379L 16:2084358-2084358 6
38 COSM87029274 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.2246G>A p.R749Q 16:2072874-2072874 6
39 COSM87035122 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.3889G>A p.A1297T 16:2083700-2083700 6
40 COSM87035668 TSC2 urinary tract,upper urinary tract,carcinoma,NS c.1712T>C p.L571P 16:2065631-2065631 6
41 COSM85719362 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.555C>G p.Y185* 9:132921927-132921927 6
42 COSM85723743 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1960C>T p.Q654* 9:132905618-132905618 6
43 COSM85721399 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.3184C>T p.R1062W 9:132896546-132896546 6
44 COSM85719460 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2117G>A p.R706H 9:132903742-132903742 6
45 COSM85722323 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.2781G>T p.K927N 9:132897455-132897455 6
46 COSM85719081 TSC1 urinary tract,upper urinary tract,carcinoma,NS c.1546C>T p.Q516* 9:132906032-132906032 6
47 COSM90142767 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.463G>A p.A155T 16:2171593-2171593 6
48 COSM90143130 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.448T>C p.F150L 16:2171578-2171578 6
49 COSM90143141 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.565C>T p.R189W 16:2172280-2172280 6
50 COSM90141465 TRAF7 urinary tract,upper urinary tract,carcinoma,NS c.331G>A p.E111K 16:2170713-2170713 6

Copy number variations for Lynch Syndrome I from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 145649 2 41800000 47800000 Copy number MSH2 Hereditary non-polyposis colorectal cancer
2 146237 2 47483766 47760012 Deletion MSH2 Hereditary non-polyposis colorectal cancer
3 146240 2 47483766 47760012 Duplication MSH2 Hereditary non-polyposis colorectal cancer
4 146288 2 47630206 47710367 Deletion MSH2 Hereditary non-polyposis colorectal cancer
5 146318 2 47800000 61300000 Copy number MSH6 Hereditary non-polyposis colorectal cancer
6 146329 2 47863724 47887596 Deletion MSH6 Hereditary non-polyposis colorectal cancer
7 174998 3 37009982 37067341 Deletion MLH1 Hereditary non-polyposis colorectal cancer
8 175001 3 37009982 37067341 Duplication MLH1 Hereditary non-polyposis colorectal cancer
9 175023 3 37034841 37092337 Mutation MLH1 Hereditary non-polyposis colorectal cancer

Expression for Lynch Syndrome I

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

Pathways for Lynch Syndrome I

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

# Super pathways Score Top Affiliating Genes
1 11.55 PMS2 MSH2 MLH1
2
Show member pathways
11.33 PMS2 PMS1 MSH6 MSH2 MLH1
3 11.2 MSH6 MSH2 MLH1
4 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for Lynch Syndrome I

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

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.63 ZFR RAD51D MSH6 MSH2 MORC2 MLH1
2 MutSalpha complex GO:0032301 9.26 MSH6 MSH2
3 MutLalpha complex GO:0032389 9.13 PMS2 PMS1 MLH1
4 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.85 RAD51D PMS2 PMS1 MSH6 MSH2 MLH1
2 cellular response to DNA damage stimulus GO:0006974 9.8 RAD51D PMS2 PMS1 MSH6 MSH2 MORC2
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.67 MSH6 MSH2 MLH1
4 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
5 negative regulation of DNA recombination GO:0045910 9.54 MSH6 MSH2
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.51 MSH6 MSH2
8 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
9 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
10 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
11 protein deglutamylation GO:0035608 9.43 AGBL5 AGBL4
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
13 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
14 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
15 mismatch repair GO:0006298 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.2 ZNF470 ZFR RAD51D PMS2 PMS1 PHC1
2 ATP binding GO:0005524 10.08 RAD51D PMS2 PMS1 MSH6 MSH2 MORC2
3 zinc ion binding GO:0008270 10.03 ZFR PHC1 MORC2 CPZ AGBL5 AGBL4
4 chromatin binding GO:0003682 9.93 MSH6 MSH2 MORC2 MLH1 DNAJC2
5 enzyme binding GO:0019899 9.87 PMS1 MSH6 MSH2 MLH1
6 single-stranded DNA binding GO:0003697 9.67 RAD51D PMS2 MSH2 MLH1
7 DNA-dependent ATPase activity GO:0008094 9.63 RAD51D MSH6 MSH2
8 metallocarboxypeptidase activity GO:0004181 9.58 CPZ AGBL5 AGBL4
9 MutSalpha complex binding GO:0032407 9.52 PMS2 MLH1
10 MutLalpha complex binding GO:0032405 9.51 MSH6 MSH2
11 ATPase activity GO:0016887 9.5 PMS2 PMS1 MSH6 MSH2 MORC2 MLH1
12 oxidized purine DNA binding GO:0032357 9.49 MSH6 MSH2
13 single guanine insertion binding GO:0032142 9.43 MSH6 MSH2
14 four-way junction DNA binding GO:0000400 9.43 RAD51D MSH6 MSH2
15 guanine/thymine mispair binding GO:0032137 9.33 MSH6 MSH2 MLH1
16 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
17 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Sources for Lynch Syndrome I

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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