HNPCC
MCID: HRD224
MIFTS: 51

Hereditary Nonpolyposis Colon Cancer (HNPCC)

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

Aliases & Classifications for Hereditary Nonpolyposis Colon Cancer

MalaCards integrated aliases for Hereditary Nonpolyposis Colon Cancer:

Name: Hereditary Nonpolyposis Colon Cancer 58 29 54 6
Hereditary Nonpolyposis Colorectal Cancer 58
Familial Nonpolyposis Colorectal Cancer 58
Familial Nonpolyposis Colon Cancer 58
Hnpcc 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases


External Ids:

UMLS via Orphanet 71 C0009405 C1112155 C1333990
Orphanet 58 ORPHA443909

Summaries for Hereditary Nonpolyposis Colon Cancer

MalaCards based summary : Hereditary Nonpolyposis Colon Cancer, also known as hereditary nonpolyposis colorectal cancer, is related to colorectal cancer, hereditary nonpolyposis, type 5 and colorectal cancer, hereditary nonpolyposis, type 6. An important gene associated with Hereditary Nonpolyposis Colon Cancer is MLH1 (MutL Homolog 1), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. The drugs Ethinyl Estradiol and Polyestradiol phosphate have been mentioned in the context of this disorder. Affiliated tissues include colon, prostate and pancreas, and related phenotypes are Decreased viability and Decreased viability

Related Diseases for Hereditary Nonpolyposis Colon Cancer

Diseases related to Hereditary Nonpolyposis Colon Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 242)
# Related Disease Score Top Affiliating Genes
1 colorectal cancer, hereditary nonpolyposis, type 5 32.5 PMS2 MUTYH MSH6 MSH2 MLH1
2 colorectal cancer, hereditary nonpolyposis, type 6 31.8 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
3 gastric cancer 31.0 MUTYH MSH6 MSH2 MLH1 BRCA2 BRCA1
4 rectum cancer 30.9 MUTYH MSH6 MSH2 MLH1
5 endometrial hyperplasia 30.6 MSH6 MSH2 MLH1
6 ascending colon cancer 30.6 MSH2 MLH1
7 attenuated familial adenomatous polyposis 30.5 MUTYH MSH6 MSH2
8 myh-associated polyposis 30.5 MUTYH MSH2
9 colorectal adenocarcinoma 30.5 PMS2 MSH6 MSH2 MLH1
10 familial adenomatous polyposis 2 30.4 MUTYH MLH1
11 adenoma 30.4 MUTYH MSH6 MSH2 MLH1
12 familial ovarian cancer 30.4 BRCA2 BRCA1
13 skin benign neoplasm 30.4 MSH6 MSH2 MLH1
14 bap1 tumor predisposition syndrome 30.4 PMS2 BRCA2
15 mismatch repair cancer syndrome 30.4 PMS2 MSH6 MSH2 MLH1
16 colorectal cancer, hereditary nonpolyposis, type 4 30.3 PMS2 PMS1 MLH1
17 familial adenomatous polyposis 30.3 PMS1 MUTYH MSH6 MSH2 MLH1
18 lynch syndrome i 30.3 PMS2 PMS1 MSH6 MSH2 MLH1 EPCAM
19 colorectal adenoma 30.3 MUTYH MSH2 MLH1
20 tetraploidy 30.2 BRCA2 BRCA1
21 appendix carcinoid tumor 30.1 PMS2 MSH6 MSH2 MLH1
22 duodenum adenocarcinoma 30.1 PMS2 MSH6 MSH2 MLH1
23 neurofibromatosis 30.1 PMS2 MSH6 MSH2 MLH1
24 familial colorectal cancer 30.1 MUTYH MSH2 MLH1 BRCA2
25 colorectal cancer 2 30.1 MSH2 MLH1
26 mismatch repair cancer syndrome 1 30.1 PMS2 PMS1 MSH6 MSH2 MLH1
27 duodenum cancer 30.0 PMS2 MUTYH MSH6 MSH2 MLH1
28 adenocarcinoma 30.0 MSH6 MSH2 MLH1 EPCAM BRCA2 BRCA1
29 colon adenocarcinoma 29.9 PMS2 MSH6 MLH1 EPCAM
30 lynch syndrome 29.8 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
31 intestinal benign neoplasm 29.8 PMS2 MUTYH MSH6 MSH2 MLH1
32 signet ring cell adenocarcinoma 29.7 MSH2 MLH1
33 small intestine cancer 29.7 PMS2 MUTYH MSH6 MSH2 MLH1 EPCAM
34 breast-ovarian cancer, familial 2 29.6 BRCA2 BRCA1
35 melanoma, cutaneous malignant 1 29.5 MSH6 MSH2 MLH1 BRCA2 BRCA1
36 endometrial cancer 29.4 PMS2 MUTYH MSH6 MSH2 MLH1 BRCA2
37 sebaceous adenocarcinoma 29.3 PMS2 PMS1 MSH6 MSH2 MLH1
38 sebaceous adenoma 29.3 PMS2 MUTYH MSH6 MSH2 MLH1
39 rhabdomyosarcoma 29.2 PMS2 MSH6 MSH2 MLH1 BRCA2 BRCA1
40 neurofibromatosis, type i 29.2 PMS2 MSH6 MSH2 MLH1 BRCA2
41 muir-torre syndrome 29.1 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
42 ovarian cancer 28.7 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
43 sebaceous gland neoplasm 28.6 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
44 hereditary breast ovarian cancer syndrome 28.4 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
45 li-fraumeni syndrome 28.3 PMS2 MUTYH MSH6 MSH2 MLH1 BRCA2
46 skin carcinoma 28.2 PMS2 MSH6 MSH2 MLH1 HPRT1 EPCAM
47 colorectal cancer 28.0 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
48 colorectal cancer, hereditary nonpolyposis, type 8 11.7
49 colorectal cancer, hereditary nonpolyposis, type 7 11.7
50 46,xy disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 10.6

Graphical network of the top 20 diseases related to Hereditary Nonpolyposis Colon Cancer:



Diseases related to Hereditary Nonpolyposis Colon Cancer

Symptoms & Phenotypes for Hereditary Nonpolyposis Colon Cancer

GenomeRNAi Phenotypes related to Hereditary Nonpolyposis Colon Cancer according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.76 PMS1
2 Decreased viability GR00221-A-2 9.76 BRCA1 PMS1
3 Decreased viability GR00221-A-3 9.76 BRCA1
4 Decreased viability GR00301-A 9.76 BRCA1 MSH2 PMS1
5 Decreased viability GR00386-A-1 9.76 PMS1
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.53 BRCA1 BRCA2 MLH1
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.53 BRCA1 BRCA2 EXO1 MLH1
8 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.53 BRCA1 BRCA2 EXO1 MLH1 MSH2 MSH6
9 Synthetic lethal with cisplatin GR00101-A-1 8.96 BRCA1 BRCA2

MGI Mouse Phenotypes related to Hereditary Nonpolyposis Colon Cancer:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.13 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
2 hematopoietic system MP:0005397 9.97 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
3 homeostasis/metabolism MP:0005376 9.96 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
4 digestive/alimentary MP:0005381 9.95 BRCA1 BRCA2 EPCAM HPRT1 MLH1 MSH2
5 endocrine/exocrine gland MP:0005379 9.91 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
6 immune system MP:0005387 9.81 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
7 mortality/aging MP:0010768 9.65 BRCA1 BRCA2 EPCAM EXO1 HPRT1 MLH1
8 neoplasm MP:0002006 9.32 BRCA1 BRCA2 EXO1 HPRT1 MLH1 MSH2

Drugs & Therapeutics for Hereditary Nonpolyposis Colon Cancer

Drugs for Hereditary Nonpolyposis Colon Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethinyl Estradiol Approved Phase 2 57-63-6 5991
2
Polyestradiol phosphate Approved Phase 2 28014-46-2
3
Estradiol Approved, Investigational, Vet_approved Phase 2 50-28-2 5757
4
Levonorgestrel Approved, Investigational Phase 2 797-63-7, 17489-40-6 13109
5
Norgestrel Approved Phase 2 6533-00-2 13109
6
Medroxyprogesterone acetate Approved, Investigational Phase 2 71-58-9
7 Cola Phase 2
8 Contraceptives, Oral Phase 2
9 Contraceptive Agents Phase 2
10 Estradiol 3-benzoate Phase 2
11 Hormone Antagonists Phase 2
12 Hormones Phase 2
13 Estradiol 17 beta-cypionate Phase 2
14
Medroxyprogesterone Phase 2 520-85-4 10631
15 Contraceptive Agents, Male Phase 2
16 Estrogens Phase 2
17 Antineoplastic Agents, Hormonal Phase 2
18
Celecoxib Approved, Investigational Phase 1 169590-42-5 2662
19 Analgesics, Non-Narcotic Phase 1
20 Analgesics Phase 1
21 Cyclooxygenase Inhibitors Phase 1
22 Antirheumatic Agents Phase 1
23 Anti-Inflammatory Agents Phase 1
24 Cyclooxygenase 2 Inhibitors Phase 1
25 Anti-Inflammatory Agents, Non-Steroidal Phase 1
26
Caffeine Approved 58-08-2 2519
27 Antibodies
28 Immunoglobulins
29 Vitamins

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 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
2 Modulation Of Putative Surrogate Endpoint Biomarkers In Endometrial Biopsies From Women With HNPCC Completed NCT00033358 Phase 2 medroxyprogesterone;ethinyl estradiol;norgestrel
3 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)
4 Hereditary Nonpolyposis Colorectal Cancer in Taiwan-Related Genetic Study and Clinical Applications Unknown status NCT00262171
5 Preliminary Evaluation of Septin9 in Patients With Hereditary Colon Cancer Syndromes Completed NCT02198092
6 Psychosocial Aspects of Genetic Testing for HNPCC Completed NCT00341575
7 Living in Lynch Syndrome Limbo: Exploring the Meaning of Uncertain Genetic Test Results Completed NCT01646112
8 Prevention of Ovarian Cancer in Women Participating in Mammography Completed NCT01851109
9 Integrating Genetic Testing for Lynch Syndrome in a Managed Care Setting Completed NCT01582841
10 Outcomes in Education and Counseling for HNPCC Testing Completed NCT00004210
11 High Definition Endoscopy Versus Virtual Chromoendoscopy In The Detection Of Colonic Polyps In HNPCC Completed NCT01823471
12 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
13 Screening for Gynecologic Cancers Among Women With Hereditary Non-Polyposis Colon Cancer (HNPCC) Completed NCT00508846
14 Predisposition to Breast Cancer BRCA1 / BRCA2 and to HNPCC Colon : Comparison to Psychological, Medical and Emotional Influencing Communication and Achievement Factors to Oncogenetics Tests Completed NCT03889171
15 Attitudes Towards Prophylactic Colectomy in HNPCC Patients Completed NCT00582452
16 Registry for Women Who Are At Risk Or May Have Lynch Syndrome Recruiting NCT00508573
17 The Molecular Predisposition to Hereditary Nonpolyposis Colon Cancer (HNPCC) Active, not recruiting NCT01447199

Search NIH Clinical Center for Hereditary Nonpolyposis Colon Cancer

Genetic Tests for Hereditary Nonpolyposis Colon Cancer

Genetic tests related to Hereditary Nonpolyposis Colon Cancer:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colon Cancer 29

Anatomical Context for Hereditary Nonpolyposis Colon Cancer

MalaCards organs/tissues related to Hereditary Nonpolyposis Colon Cancer:

40
Colon, Prostate, Pancreas, Ovary, Small Intestine, Breast, Uterus

Publications for Hereditary Nonpolyposis Colon Cancer

Articles related to Hereditary Nonpolyposis Colon Cancer:

(show top 50) (show all 2507)
# Title Authors PMID Year
1
Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing. 54 61 6
16395668 2006
2
Germline mutations of the hMLH1 and hMSH2 mismatch repair genes in Belgian hereditary nonpolyposis colon cancer (HNPCC) patients. 6 61 54
16736289 2006
3
Assay validation for identification of hereditary nonpolyposis colon cancer-causing mutations in mismatch repair genes MLH1, MSH2, and MSH6. 6 61 54
16237223 2005
4
Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer. 6 54 61
11793442 2002
5
DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2. 61 54 6
11179758 2001
6
CpG dinucleotides in the hMSH2 and hMLH1 genes are hotspots for HNPCC mutations. 54 61 6
8566964 1996
7
The spectrum of Lynch syndrome-associated germ-line mutations in Russia. 61 6
31491536 2020
8
HNPCC-associated pheochromocytoma: expanding the tumor spectrum. 61 6
25872134 2015
9
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 6 61
25559809 2015
10
Integrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms. 6 61
24278394 2013
11
Functional characterization of MLH1 missense variants identified in Lynch syndrome patients. 6 61
22753075 2012
12
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 6 61
23047549 2012
13
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. 6 61
22658618 2012
14
Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. 6 61
21404117 2011
15
Microsatellite instability in the peripheral blood leukocytes of HNPCC patients. 61 6
20052760 2010
16
Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers. 61 6
19930554 2009
17
A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR. 61 6
19250818 2009
18
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 6 61
18566915 2009
19
A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects. 6 61
18561205 2008
20
Mechanisms of pathogenicity in human MSH2 missense mutants. 6 61
18951462 2008
21
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 6 61
18772310 2008
22
MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system. 61 6
18781619 2008
23
Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction. 6 61
18556772 2008
24
Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). 6 61
18383312 2008
25
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 61 6
18301448 2008
26
Distinct effects of the recurrent Mlh1G67R mutation on MMR functions, cancer, and meiosis. 61 6
18337503 2008
27
Mismatch repair gene mutations in Chinese HNPCC patients. 61 6
18931482 2008
28
Mutation spectrum in HNPCC in the Israeli population. 61 6
18389388 2008
29
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 6 61
18269114 2008
30
Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. 61 6
17594722 2007
31
Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. 61 6
17720936 2007
32
Frequency of constitutional MSH6 mutations in a consecutive series of families with clinical suspicion of HNPCC. 6 61
17718861 2007
33
Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing. 61 6
17569143 2007
34
Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management. 61 6
17414604 2007
35
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 6 61
17312306 2007
36
Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC. 61 6
17250661 2007
37
Medullary carcinoma of the pancreas in a man with hereditary nonpolyposis colorectal cancer due to a mutation of the MSH2 mismatch repair gene. 6 61
16996571 2006
38
Long-range PCR facilitates the identification of PMS2-specific mutations. 61 6
16619239 2006
39
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants. 61 6
16341550 2006
40
Efficiency of the revised Bethesda guidelines (2003) for the detection of mutations in mismatch repair genes in Austrian HNPCC patients. 61 6
16206289 2006
41
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 6 61
16472587 2006
42
Gene conversion is a frequent mechanism of inactivation of the wild-type allele in cancers from MLH1/MSH2 deletion carriers. 6 61
16423994 2006
43
Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study). 6 61
16451135 2006
44
Stability of BAT26 in tumours of hereditary nonpolyposis colorectal cancer patients with MSH2 intragenic deletion. 61 6
16251890 2006
45
A 'nonsense' mutation leads to aberrant splicing of hMLH1 in a German hereditary non-polyposis colorectal cancer family. 61 6
16736291 2006
46
Hereditary non-polyposis colorectal cancer: clinical and molecular evidence for a new entity of hereditary colorectal cancer. 61 6
15955785 2005
47
Tumours from MSH2 mutation carriers show loss of MSH2 expression but many tumours from MLH1 mutation carriers exhibit weak positive MLH1 staining. 6 61
16216036 2005
48
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). 6 61
15942939 2005
49
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 6 61
15849733 2005
50
Spectrum of germ-line MLH1 and MSH2 mutations in Austrian patients with hereditary nonpolyposis colorectal cancer. 6 61
15926618 2005

Variations for Hereditary Nonpolyposis Colon Cancer

ClinVar genetic disease variations for Hereditary Nonpolyposis Colon Cancer:

6 (show top 50) (show all 142)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH2 NM_000251.2(MSH2):c.2360T>G (p.Leu787Arg) SNV Pathogenic 619523 rs1558521929 GRCh37: 2:47705560-47705560
GRCh38: 2:47478421-47478421
2 PMS2 NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) Indel Pathogenic 141280 rs587781626 GRCh37: 7:6013118-6013119
GRCh38: 7:5973487-5973488
3 MLH1 NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) SNV Pathogenic 90110 rs63749859 GRCh37: 3:37042467-37042467
GRCh38: 3:37000976-37000976
4 MSH2 NM_000251.2(MSH2):c.472C>T (p.Gln158Ter) SNV Pathogenic 91102 rs63751226 GRCh37: 2:47637338-47637338
GRCh38: 2:47410199-47410199
5 MSH6 NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer) Duplication Pathogenic 218061 rs587782562 GRCh37: 2:48030716-48030717
GRCh38: 2:47803577-47803578
6 MLH1 NM_001167617.2(MLH1):c.-450del Deletion Pathogenic 90332 rs63750822 GRCh37: 3:37035101-37035101
GRCh38: 3:36993610-36993610
7 MSH2 NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter) SNV Pathogenic 928800 GRCh37: 2:47693895-47693895
GRCh38: 2:47466756-47466756
8 MLH1 NM_001167617.2(MLH1):c.1958_1959dup (p.Val654fs) Duplication Pathogenic 90102 rs267607901 GRCh37: 3:37092123-37092124
GRCh38: 3:37050632-37050633
9 MSH2 NM_000251.2(MSH2):c.163del (p.Arg55fs) Deletion Pathogenic 90712 rs63750337 GRCh37: 2:47630491-47630491
GRCh38: 2:47403352-47403352
10 MSH2 NM_000251.2(MSH2):c.1759+1G>A SNV Pathogenic 90766 rs587779108 GRCh37: 2:47698202-47698202
GRCh38: 2:47471063-47471063
11 MSH2 NM_000251.3(MSH2):c.227_228AG[1] (p.Ser77fs) Microsatellite Pathogenic 90953 rs63749848 GRCh37: 2:47635555-47635556
GRCh38: 2:47408416-47408417
12 MSH2 NM_000251.2(MSH2):c.970_971del (p.Gln324fs) Deletion Pathogenic 91262 rs63751044 GRCh37: 2:47643462-47643463
GRCh38: 2:47416323-47416324
13 MSH2 NM_000251.2(MSH2):c.943-1G>T SNV Pathogenic 408461 rs12476364 GRCh37: 2:47643434-47643434
GRCh38: 2:47416295-47416295
14 MSH2 NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) SNV Pathogenic 91105 rs63750624 GRCh37: 2:47637350-47637350
GRCh38: 2:47410211-47410211
15 MSH6 NM_000179.2(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) Deletion Pathogenic 428395 rs1114167767 GRCh37: 2:48032087-48032087
GRCh38: 2:47804948-47804948
16 MLH1 NC_000003.12:g.(37042332_37047518)_(37050847_?)del Deletion Pathogenic 981961 GRCh37: 3:37083823-37092338
GRCh38:
17 MLH1 NC_000003.12:g.(?_36993349)_(37028933_37040185)del Deletion Pathogenic 981962 GRCh37: 3:37034840-37081676
GRCh38:
18 PMS2 NC_000007.14:g.(?_5970924)_(6009107_?)del Deletion Pathogenic 981980 GRCh37: 7:6010555-6048738
GRCh38:
19 MSH2 NC_000002.12:g.(?_47403066)_(47416430_47429741)del Deletion Pathogenic 982004 GRCh37: 2:47630205-47656880
GRCh38:
20 MSH2 NC_000002.12:g.(47416430_47429741)_(47445658_47463030)del Deletion Pathogenic 982005 GRCh37: 2:47643569-47690169
GRCh38:
21 MSH2 NC_000002.12:g.(47429942_47445547)_(47445658_47463030)del Deletion Pathogenic 982006 GRCh37: 2:47657081-47690169
GRCh38:
22 MSH2 NC_000002.12:g.(?_47403066)_(47410373_47412413)del Deletion Pathogenic 982007 GRCh37: 2:47630205-47639552
GRCh38:
23 PMS2 NC_000007.14:g.(5987621_5989799)_(5989956_5991972)del Deletion Pathogenic 982011 GRCh37: 7:6027252-6031603
GRCh38:
24 PMS2 NC_000007.14:g.(5987621_5989799)_(5992058_5995533)del Deletion Pathogenic 982014 GRCh37: 7:6027252-6035164
GRCh38:
25 EPCAM NC_000002.12:g.(47379970_47385165)_(47387029_?)del Deletion Pathogenic 982015 GRCh37: 2:47607109-47614168
GRCh38:
26 MSH2 NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) SNV Pathogenic 90868 rs267607995 GRCh37: 2:47703547-47703547
GRCh38: 2:47476408-47476408
27 MSH6 NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs) Insertion Pathogenic 933196 GRCh37: 2:48027812-48027813
GRCh38: 2:47800673-47800674
28 MSH6 NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) SNV Pathogenic 141058 rs587781462 GRCh37: 2:48027422-48027422
GRCh38: 2:47800283-47800283
29 MLH1 NM_001354630.1(MLH1):c.1732-875del Deletion Pathogenic 89910 rs63749986 GRCh37: 3:37089132-37089132
GRCh38: 3:37047641-37047641
30 MSH2 NC_000002.11:g.(47630542_47635539)_(47635695_47637232)del Deletion Pathogenic 984486 GRCh37: 2:47630542-47637232
GRCh38:
31 MSH2 NC_000002.11:g.(47657081_47672686)_(47708011_47709917)del Deletion Pathogenic 987807 GRCh37: 2:47657081-47709917
GRCh38:
32 PMS2 NC_000007.13:g.(?_6010555)_(6027252_6029430)del Deletion Pathogenic 987857 GRCh37: 7:6010555-6029430
GRCh38:
33 PMS2 NM_000535.7(PMS2):c.1515del (p.Phe506fs) Deletion Pathogenic 819374 rs1583319050 GRCh37: 7:6026881-6026881
GRCh38: 7:5987250-5987250
34 MSH2 NM_000251.2(MSH2):c.1386+1G>A SNV Pathogenic 90641 rs267607957 GRCh37: 2:47672797-47672797
GRCh38: 2:47445658-47445658
35 MSH2 NC_000002.11:g.(47635695_47637232)_(47643569_47656880)del Deletion Pathogenic 996266 GRCh37: 2:47635695-47656880
GRCh38:
36 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys) SNV Pathogenic 182809 rs587780059 GRCh37: 7:6048649-6048649
GRCh38: 7:6009018-6009018
37 MSH2 NM_000251.2(MSH2):c.2113del (p.Val705fs) Deletion Pathogenic 1760 rs63749811 GRCh37: 2:47703613-47703613
GRCh38: 2:47476474-47476474
38 MSH6 NM_000179.2(MSH6):c.2690dup (p.Asn897fs) Duplication Pathogenic 420121 rs1553414010 GRCh37: 2:48027806-48027807
GRCh38: 2:47800667-47800668
39 MSH6 NM_000179.3(MSH6):c.3573dup (p.Val1192fs) Duplication Pathogenic 372414 rs1057517764 GRCh37: 2:48032767-48032768
GRCh38: 2:47805628-47805629
40 MSH6 NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) SNV Pathogenic 89563 rs63749980 GRCh37: 2:48025864-48025864
GRCh38: 2:47798725-47798725
41 MSH6 NM_000179.2(MSH6):c.578del (p.Leu193fs) Deletion Pathogenic 183724 rs587782281 GRCh37: 2:48023152-48023152
GRCh38: 2:47796013-47796013
42 MLH1 NM_000249.3(MLH1):c.677+1G>T SNV Pathogenic 90312 rs267607778 GRCh37: 3:37053591-37053591
GRCh38: 3:37012100-37012100
43 MSH2 NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) SNV Pathogenic 90510 rs63750396 GRCh37: 2:47643527-47643527
GRCh38: 2:47416388-47416388
44 PMS2 NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) Indel Pathogenic 91290 rs587779326 GRCh37: 7:6029462-6029463
GRCh38: 7:5989831-5989832
45 MSH2 NM_000251.2(MSH2):c.932del (p.Asn311fs) Deletion Pathogenic 127655 rs587779979 GRCh37: 2:47641546-47641546
GRCh38: 2:47414407-47414407
46 MSH6 NM_000179.2(MSH6):c.3882del (p.Pro1295fs) Deletion Pathogenic 230870 rs876658817 GRCh37: 2:48033671-48033671
GRCh38: 2:47806532-47806532
47 PMS2 NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) SNV Pathogenic 9242 rs63750451 GRCh37: 7:6026514-6026514
GRCh38: 7:5986883-5986883
48 MLH1 NM_000249.3(MLH1):c.1896G>A (p.Glu632=) SNV Pathogenic 89930 rs63751632 GRCh37: 3:37089174-37089174
GRCh38: 3:37047683-37047683
49 PMS2 NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) SNV Pathogenic 231993 rs876659480 GRCh37: 7:6022474-6022474
GRCh38: 7:5982843-5982843
50 PMS2 NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) SNV Pathogenic 91343 rs587779338 GRCh37: 7:6017220-6017220
GRCh38: 7:5977589-5977589

Expression for Hereditary Nonpolyposis Colon Cancer

Search GEO for disease gene expression data for Hereditary Nonpolyposis Colon Cancer.

Pathways for Hereditary Nonpolyposis Colon Cancer

Pathways related to Hereditary Nonpolyposis Colon Cancer according to GeneCards Suite gene sharing:

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.76 PMS2 MUTYH MSH6 MSH2 MLH1 EXO1
2
Show member pathways
12.71 PMS2 MSH2 MLH1 EXO1 BRCA1
3
Show member pathways
12.65 MSH6 MSH2 MLH1 BRCA2 BRCA1
4
Show member pathways
12.61 MSH6 MSH2 MLH1 BRCA2
5 12.58 MSH6 MSH2 MLH1 BRCA2
6
Show member pathways
12.43 MSH6 MSH2 BRCA2 BRCA1
7 12.21 MUTYH MSH6 MSH2 MLH1 BRCA2 BRCA1
8
Show member pathways
12.05 EXO1 BRCA2 BRCA1
9 11.94 MSH6 MSH2 MLH1
10 11.92 MSH6 MSH2 BRCA2 BRCA1
11
Show member pathways
11.89 EXO1 BRCA2 BRCA1
12 11.81 PMS2 MSH2 MLH1
13 11.67 PMS2 MLH1 BRCA2 BRCA1
14
Show member pathways
11.59 MSH6 MSH2 BRCA2 BRCA1
15 11.49 MSH6 MSH2 MLH1 BRCA1
16 11.3 MSH6 MSH2 BRCA1
17
Show member pathways
11.19 MSH2 MLH1
18
Show member pathways
11.08 PMS2 PMS1 MSH6 MSH2 MLH1 EXO1
19 10.72 PMS2 MSH6 MSH2 MLH1

GO Terms for Hereditary Nonpolyposis Colon Cancer

Cellular components related to Hereditary Nonpolyposis Colon Cancer according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.97 PMS2 MUTYH MSH6 MSH2 MLH1 EXO1
2 chromosome GO:0005694 9.65 MSH6 MSH2 MLH1 BRCA2 BRCA1
3 condensed nuclear chromosome GO:0000794 9.43 MLH1 BRCA1
4 condensed chromosome GO:0000793 9.4 MLH1 BRCA1
5 lateral element GO:0000800 9.32 BRCA2 BRCA1
6 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
7 mismatch repair complex GO:0032300 9.02 PMS2 PMS1 MSH6 MSH2 MLH1
8 MutSalpha complex GO:0032301 8.96 MSH6 MSH2

Biological processes related to Hereditary Nonpolyposis Colon Cancer according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.81 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
2 DNA recombination GO:0006310 9.73 MSH2 EXO1 BRCA2 BRCA1
3 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.72 MSH6 MSH2 MLH1 BRCA2 BRCA1
4 double-strand break repair GO:0006302 9.7 MSH2 BRCA2 BRCA1
5 isotype switching GO:0045190 9.67 MSH6 MSH2 MLH1 EXO1
6 somatic hypermutation of immunoglobulin genes GO:0016446 9.65 PMS2 MSH6 MSH2 MLH1 EXO1
7 DNA repair GO:0006281 9.61 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1
8 intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator GO:0042771 9.6 MSH2 BRCA2
9 response to X-ray GO:0010165 9.59 MSH2 BRCA2
10 determination of adult lifespan GO:0008340 9.58 MSH6 MSH2
11 negative regulation of DNA recombination GO:0045910 9.58 MSH6 MSH2
12 somatic recombination of immunoglobulin gene segments GO:0016447 9.58 MSH6 MSH2 MLH1
13 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 9.57 BRCA2 BRCA1
14 postreplication repair GO:0006301 9.56 MSH2 BRCA1
15 positive regulation of isotype switching to IgG isotypes GO:0048304 9.55 MSH2 MLH1
16 positive regulation of helicase activity GO:0051096 9.54 MSH6 MSH2
17 positive regulation of isotype switching to IgA isotypes GO:0048298 9.51 MSH2 MLH1
18 maintenance of DNA repeat elements GO:0043570 9.49 MSH6 MSH2
19 chordate embryonic development GO:0043009 9.48 BRCA2 BRCA1
20 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.46 MSH2 MLH1
21 mismatch repair GO:0006298 9.17 PMS2 PMS1 MUTYH MSH6 MSH2 MLH1

Molecular functions related to Hereditary Nonpolyposis Colon Cancer according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.08 PMS2 PMS1 MUTYH MSH6 MSH2 EXO1
2 enzyme binding GO:0019899 9.85 PMS1 MSH6 MSH2 MLH1 BRCA1
3 chromatin binding GO:0003682 9.84 MSH6 MSH2 MLH1 EXO1
4 ATPase activity GO:0016887 9.77 PMS2 PMS1 MSH6 MSH2 MLH1
5 magnesium ion binding GO:0000287 9.72 MSH6 MSH2 HPRT1
6 single-stranded DNA binding GO:0003697 9.71 PMS2 MSH2 MLH1 BRCA2
7 damaged DNA binding GO:0003684 9.69 MSH6 MSH2 BRCA1
8 ADP binding GO:0043531 9.57 MSH6 MSH2
9 DNA-dependent ATPase activity GO:0008094 9.56 MSH6 MSH2
10 four-way junction DNA binding GO:0000400 9.52 MSH6 MSH2
11 MutSalpha complex binding GO:0032407 9.5 PMS2 MUTYH MLH1
12 single guanine insertion binding GO:0032142 9.49 MSH6 MSH2
13 single thymine insertion binding GO:0032143 9.43 MSH6 MSH2
14 MutLalpha complex binding GO:0032405 9.43 MUTYH MSH6 MSH2
15 oxidized purine DNA binding GO:0032357 9.33 MUTYH MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
17 mismatched DNA binding GO:0030983 9.02 PMS2 PMS1 MSH6 MSH2 MLH1

Sources for Hereditary Nonpolyposis Colon Cancer

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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