HNPCC4
MCID: CLR039
MIFTS: 45

Colorectal Cancer, Hereditary Nonpolyposis, Type 4 (HNPCC4)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 4 57 13 72
Hereditary Nonpolyposis Colorectal Cancer Type 4 12 29 6 15
Hnpcc4 57 12 74
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4 40
Hereditary Non-Polyposis Colorectal Cancer 4 74

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070275
MeSH 44 D003123
MedGen 42 C1838333
UMLS 72 C1838333

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

UniProtKB/Swiss-Prot : 74 Hereditary non-polyposis colorectal cancer 4: 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 : Colorectal Cancer, Hereditary Nonpolyposis, Type 4, also known as hereditary nonpolyposis colorectal cancer type 4, is related to spindle cell intraocular melanoma and adenoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 4 is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Affiliated tissues include colon, ovary and uterus, and related phenotypes are ovarian neoplasm and endometrial carcinoma

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutation in the PMS2 gene on chromosome 7p22.

More information from OMIM: 614337 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Diseases in the Colorectal Cancer, Hereditary Nonpolyposis, Type 5 family:

Colorectal Cancer, Hereditary Nonpolyposis, Type 2 Colorectal Cancer, Hereditary Nonpolyposis, Type 8
Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Colorectal Cancer, Hereditary Nonpolyposis, Type 4
Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 spindle cell intraocular melanoma 10.1 PMS2 MLH1
2 adenoma 9.9 MSH2 MLH1
3 colorectal cancer, hereditary nonpolyposis, type 7 9.8 MSH2 MLH1
4 lower lip cancer 9.8 MSH2 MLH1
5 anal fistula 9.8 MSH2 MLH1
6 melanocytic nevus syndrome, congenital 9.8 MSH2 MLH1
7 childhood kidney cell carcinoma 9.8 MSH2 MLH1
8 cecum adenocarcinoma 9.7 MSH2 MLH1
9 intestinal benign neoplasm 9.7 MSH2 MLH1
10 keratoacanthoma 9.7 MSH2 MLH1
11 skin benign neoplasm 9.7 MSH2 MLH1
12 colorectal cancer, hereditary nonpolyposis, type 5 9.7 MSH2 MLH1
13 familial colorectal cancer 9.7 MSH2 MLH1
14 colorectal adenoma 9.7 MSH2 MLH1
15 colorectal adenocarcinoma 9.6 MSH2 MLH1
16 female reproductive system disease 9.6 MSH2 MLH1
17 familial adenomatous polyposis 9.6 MSH2 MLH1
18 bladder urothelial carcinoma 9.6 RB1 MLH1
19 gastrointestinal system disease 9.5 MSH2 MLH1
20 ulcerative colitis 9.5 MSH2 MLH1
21 appendix carcinoid tumor 9.4 PMS2 MSH2 MLH1
22 adenosquamous colon carcinoma 9.4 PMS2 MSH2 MLH1
23 sebaceous adenoma 9.4 PMS2 MSH2 MLH1
24 lynch syndrome i 9.4 PMS2 MSH2 MLH1
25 lynch syndrome 9.4 PMS2 MSH2 MLH1
26 sebaceous adenocarcinoma 9.4 PMS2 MSH2 MLH1
27 muir-torre syndrome 9.4 PMS2 MSH2 MLH1
28 small intestine cancer 9.4 PMS2 MSH2 MLH1
29 mismatch repair cancer syndrome 9.4 PMS2 MSH2 MLH1
30 uterine anomalies 9.4 PMS2 MSH2 MLH1
31 colonic disease 9.3 PMS2 MSH2 MLH1
32 autosomal genetic disease 9.3 PMS2 MSH2 MLH1
33 intestinal disease 9.3 PMS2 MSH2 MLH1
34 gastrointestinal system cancer 9.3 PMS2 MSH2 MLH1
35 large intestine cancer 9.3 PMS2 MSH2 MLH1
36 adamantinoma of long bones 9.2 RB1 MSH2 MLH1
37 hematologic cancer 9.2 RB1 MSH2 MLH1
38 rhabdomyosarcoma 9.2 PMS2 MSH2
39 brain cancer 9.2 RB1 PMS2 MSH2
40 endometrial cancer 8.7 RB1 PMS2 MSH2 MLH1

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

32
# Description HPO Frequency HPO Source Accession
1 ovarian neoplasm 32 HP:0100615
2 endometrial carcinoma 32 HP:0012114
3 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716

Clinical features from OMIM:

614337

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 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 8.8 MLH1 MSH2 PMS2

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.56 MLH1 MSH2 PMS2 RB1
2 hematopoietic system MP:0005397 9.46 MLH1 MSH2 PMS2 RB1
3 immune system MP:0005387 9.26 MLH1 MSH2 PMS2 RB1
4 neoplasm MP:0002006 8.92 MLH1 MSH2 PMS2 RB1

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 4 29 PMS2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

41
Colon, Ovary, Uterus, Skin, Small Intestine, Breast, Testes

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

(show top 50) (show all 66)
# Title Authors PMID Year
1
A frame-shift mutation of PMS2 is a widespread cause of Lynch syndrome. 8 71
18178629 2008
2
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 8 71
16472587 2006
3
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 8 71
15887124 2005
4
Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 8 71
14756672 2004
5
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. 71
27854360 2017
6
PMS2 monoallelic mutation carriers: the known unknown. 8
25856668 2016
7
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 71
25711197 2015
8
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
9
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
10
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. 71
25452455 2015
11
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 71
25003300 2014
12
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 71
25070057 2014
13
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
14
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 71
24310308 2014
15
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 71
23709753 2013
16
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
17
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 71
23535968 2013
18
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 71
23408351 2013
19
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 71
19120036 2009
20
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 71
19101824 2009
21
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 71
18759827 2008
22
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 71
18772310 2008
23
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 8
18602922 2008
24
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 71
18301448 2008
25
The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome. 71
18496770 2008
26
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 71
17557300 2007
27
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 71
17312306 2007
28
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. 71
16724012 2006
29
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 71
16285940 2005
30
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 71
15849733 2005
31
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 71
16083711 2005
32
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 71
15713769 2005
33
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 71
15655560 2005
34
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 71
15571801 2004
35
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 71
15256438 2004
36
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 71
15604628 2004
37
Lynch Syndrome 71
20301390 2004
38
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 71
14512394 2003
39
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 71
12655568 2003
40
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 71
12454801 2002
41
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 71
12414824 2002
42
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 71
12362047 2002
43
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. 71
12352241 2002
44
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 71
11920650 2002
45
Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 71
11870161 2002
46
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. 71
11854906 2001
47
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 71
11585727 2001
48
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 71
11524701 2001
49
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 71
11598466 2001
50
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 71
11245474 2001

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

6 (show top 50) (show all 191)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 RB1 NM_000321.2(RB1): c.607+1G> A single nucleotide variant Pathogenic rs587776789 13:48923160-48923160 13:48349024-48349024
2 PMS2 NM_000535.7(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 7:6042221-6042221 7:6002590-6002590
3 PMS2 NM_000535.7(PMS2): c.2117del (p.Lys706fs) deletion Pathogenic rs587782704 7:6022512-6022512 7:5982881-5982881
4 PMS2 NM_000535.7(PMS2): c.325dup (p.Glu109fs) duplication Pathogenic rs587781716 7:6043349-6043349 7:6003718-6003718
5 PMS2 NM_000535.7(PMS2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs587780059 7:6048649-6048649 7:6009018-6009018
6 PMS2 NM_000535.7(PMS2): c.823C> T (p.Gln275Ter) single nucleotide variant Pathogenic rs587780062 7:6035245-6035245 7:5995614-5995614
7 PMS2 NM_000535.7(PMS2): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs200640585 7:6031649-6031649 7:5992018-5992018
8 PMS2 NM_000535.7(PMS2): c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) indel Pathogenic rs267608150 7:6037019-6037024 7:5997388-5997393
9 PMS2 NM_000535.7(PMS2): c.862_863del (p.Gln288fs) deletion Pathogenic rs63750246 7:6035205-6035206 7:5995574-5995575
10 PMS2 NM_000535.7(PMS2): c.853_856ACAG[2] (p.Arg287fs) short repeat Pathogenic rs267608154 7:6035204-6035207 7:5995573-5995576
11 PMS2 NM_000535.7(PMS2): c.2239_2242AGAA[1] (p.Lys748fs) short repeat Pathogenic rs267608173 7:6018256-6018259 7:5978625-5978628
12 PMS2 NM_000535.7(PMS2): c.2192_2196del (p.Leu731fs) deletion Pathogenic rs63750695 7:6018306-6018310 7:5978675-5978679
13 PMS2 NM_000535.7(PMS2): c.2174+1G> A single nucleotide variant Pathogenic rs267608172 7:6022454-6022454 7:5982823-5982823
14 PMS2 NM_000535.7(PMS2): c.1939A> T (p.Lys647Ter) single nucleotide variant Pathogenic rs201451115 7:6026457-6026457 7:5986826-5986826
15 PMS2 NM_000535.7(PMS2): c.1261C> T (p.Arg421Ter) single nucleotide variant Pathogenic rs587778617 7:6027135-6027135 7:5987504-5987504
16 PMS2 NM_000535.7(PMS2): c.846del (p.Ser283fs) deletion Pathogenic rs1057515571 7:6035222-6035222 7:5995591-5995591
17 PMS2 NM_000535.7(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 7:6026514-6026514 7:5986883-5986883
18 PMS2 NM_000535.7(PMS2): c.1021del (p.Arg341fs) deletion Pathogenic rs63750049 7:6029554-6029554 7:5989923-5989923
19 PMS2 NM_000535.7(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 7:6017260-6017260 7:5977629-5977629
20 PMS2 NM_000535.7(PMS2): c.1731_1732delinsAGT (p.Arg578fs) indel Pathogenic/Likely pathogenic rs1057515572 7:6026664-6026665 7:5987033-5987034
21 PMS2 NM_000535.7(PMS2): c.538-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs758304323 7:6038908-6038908 7:5999277-5999277
22 PMS2 NM_000535.7(PMS2): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs587780059 7:6048649-6048649 7:6009018-6009018
23 PMS2 NM_000535.7(PMS2): c.904-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781339 7:6031690-6031690 7:5992059-5992059
24 PMS2 NM_000535.7(PMS2): c.251-2A> T single nucleotide variant Pathogenic/Likely pathogenic rs587779340 7:6043425-6043425 7:6003794-6003794
25 PMS2 NM_000535.7(PMS2): c.709C> T (p.Gln237Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1458321358 7:6037051-6037051 7:5997420-5997420
26 PMS2 NM_000535.7(PMS2): c.241G> T (p.Glu81Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730881919 7:6043612-6043612 7:6003981-6003981
27 PMS2 NM_000535.7(PMS2): c.2276-2A> C single nucleotide variant Likely pathogenic rs1554294019 7:6017390-6017390 7:5977759-5977759
28 PMS2 NM_000535.7(PMS2): c.269_270dup (p.Lys91fs) duplication Likely pathogenic rs1554304745 7:6043404-6043405 7:6003773-6003774
29 PMS2 NM_000535.7(PMS2): c.164-1G> C single nucleotide variant Likely pathogenic rs763308607 7:6043690-6043690 7:6004059-6004059
30 PMS2 NM_000535.7(PMS2): c.873del (p.Phe291fs) deletion Likely pathogenic 7:6035195-6035195 7:5995564-5995564
31 RB1 NM_000321.2(RB1): c.273T> A (p.Tyr91Ter) single nucleotide variant Likely pathogenic 13:48916743-48916743 13:48342607-48342607
32 PMS2 NM_000535.7(PMS2): c.825A> G (p.Gln275=) single nucleotide variant Likely pathogenic rs876659736 7:6035243-6035243 7:5995612-5995612
33 PMS2 NM_000535.7(PMS2): c.903G> T (p.Lys301Asn) single nucleotide variant Likely pathogenic rs267608153 7:6035165-6035165 7:5995534-5995534
34 PMS2 NM_000535.7(PMS2): c.1144+2T> A single nucleotide variant Likely pathogenic rs267608158 7:6029429-6029429 7:5989798-5989798
35 PMS2 NM_000535.7(PMS2): c.2444C> T (p.Ser815Leu) single nucleotide variant Likely pathogenic rs587779338 7:6017220-6017220 7:5977589-5977589
36 PMS2 NM_000535.7(PMS2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs587779333 7:6048650-6048650 7:6009019-6009019
37 PMS2 NM_000535.7(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 7:6045549-6045549 7:6005918-6005918
38 PMS2 NM_000535.7(PMS2): c.2149G> A (p.Val717Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201671325 7:6022480-6022480 7:5982849-5982849
39 PMS2 NM_000535.7(PMS2): c.354-7C> T single nucleotide variant Conflicting interpretations of pathogenicity rs758471869 7:6042274-6042274 7:6002643-6002643
40 PMS2 NM_000535.7(PMS2): c.1928A> G (p.Gln643Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs760629688 7:6026468-6026468 7:5986837-5986837
41 PMS2 NM_000535.7(PMS2): c.353+6A> G single nucleotide variant Conflicting interpretations of pathogenicity rs376449640 7:6043315-6043315 7:6003684-6003684
42 PMS2 NM_000535.7(PMS2): c.1760G> A (p.Ser587Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs762100304 7:6026636-6026636 7:5987005-5987005
43 PMS2 NM_000535.7(PMS2): c.1952A> G (p.Lys651Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs267608167 7:6026444-6026444 7:5986813-5986813
44 PMS2 NM_000535.7(PMS2): c.708G> T (p.Leu236Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs201395630 7:6037052-6037052 7:5997421-5997421
45 PMS2 NM_000535.7(PMS2): c.572A> G (p.Tyr191Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs375289386 7:6038872-6038872 7:5999241-5999241
46 PMS2 NM_000535.7(PMS2): c.53T> C (p.Ile18Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs201343342 7:6045633-6045633 7:6006002-6006002
47 PMS2 NM_000535.7(PMS2): c.1004A> G (p.Asn335Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs200513014 7:6029571-6029571 7:5989940-5989940
48 PMS2 NM_000535.7(PMS2): c.2012C> T (p.Thr671Met) single nucleotide variant Conflicting interpretations of pathogenicity rs587780046 7:6022617-6022617 7:5982986-5982986
49 PMS2 NM_000535.7(PMS2): c.1567T> A (p.Ser523Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs63751132 7:6026829-6026829 7:5987198-5987198
50 PMS2 NM_000535.7(PMS2): c.1490G> A (p.Gly497Asp) single nucleotide variant Conflicting interpretations of pathogenicity rs199739859 7:6026906-6026906 7:5987275-5987275

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

74
# Symbol AA change Variation ID SNP ID
1 PMS2 p.Glu705Lys VAR_012974 rs267608161
2 PMS2 p.Ser46Ile VAR_066838 rs121434629
3 PMS2 p.Ser46Asn VAR_078518 rs121434629
4 PMS2 p.Cys843Tyr VAR_078538 rs267608174

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 4.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 PMS2 MSH2 MLH1
2
Show member pathways
12.51 PMS2 MSH2 MLH1
3
Show member pathways
12.38 RB1 MSH2 MLH1
4 12.33 RB1 MSH2 MLH1
5 11.9 RB1 MSH2 MLH1
6 11.78 MSH2 MLH1
7 11.72 RB1 MSH2
8 11.49 PMS2 MLH1
9
Show member pathways
11.41 RB1 MSH2
10 11.34 MSH2 MLH1
11
Show member pathways
11.31 PMS2 MSH2 MLH1
12 11.17 MSH2 MLH1
13 11.07 RB1 MSH2
14 11.04 RB1 PMS2 MSH2 MLH1
15
Show member pathways
11.01 MSH2 MLH1
16
Show member pathways
10.92 MSH2 MLH1
17 10.59 PMS2 MSH2 MLH1

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.46 RB1 PMS2 MSH2 MLH1
2 MutLalpha complex GO:0032389 8.96 PMS2 MLH1
3 mismatch repair complex GO:0032300 8.8 PMS2 MSH2 MLH1

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.65 PMS2 MSH2 MLH1
2 DNA repair GO:0006281 9.61 PMS2 MSH2 MLH1
3 cell cycle arrest GO:0007050 9.49 RB1 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.46 MSH2 MLH1
5 isotype switching GO:0045190 9.4 MSH2 MLH1
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.37 MSH2 MLH1
7 positive regulation of isotype switching to IgA isotypes GO:0048298 9.32 MSH2 MLH1
8 somatic recombination of immunoglobulin gene segments GO:0016447 9.26 MSH2 MLH1
9 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.16 MSH2 MLH1
10 mismatch repair GO:0006298 9.13 PMS2 MSH2 MLH1
11 somatic hypermutation of immunoglobulin genes GO:0016446 8.8 PMS2 MSH2 MLH1

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.54 RB1 MSH2 MLH1
2 ATPase activity GO:0016887 9.5 PMS2 MSH2 MLH1
3 MutSalpha complex binding GO:0032407 9.26 PMS2 MLH1
4 guanine/thymine mispair binding GO:0032137 9.16 MSH2 MLH1
5 single-stranded DNA binding GO:0003697 9.13 PMS2 MSH2 MLH1
6 mismatched DNA binding GO:0030983 8.8 PMS2 MSH2 MLH1

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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