HNPCC4
MCID: CLR039
MIFTS: 40

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 56 13 71
Hereditary Nonpolyposis Colorectal Cancer Type 4 12 29 6 15
Hnpcc4 56 12 73
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4 39
Hereditary Non-Polyposis Colorectal Cancer 4 73

Characteristics:

HPO:

31
colorectal cancer, hereditary nonpolyposis, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070275
OMIM 56 614337
OMIM Phenotypic Series 56 PS120435
MeSH 43 D003123
MedGen 41 C1838333
SNOMED-CT via HPO 68 123843001 254878006 263681008
UMLS 71 C1838333

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

UniProtKB/Swiss-Prot : 73 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 adenosquamous colon carcinoma. 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 Direct p53 effectors and Mismatch repair. Affiliated tissues include colon, small intestine and skin, 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 31)
# Related Disease Score Top Affiliating Genes
1 spindle cell intraocular melanoma 10.1 PMS2 MLH1
2 adenosquamous colon carcinoma 10.1 PMS2 MLH1
3 extrahepatic bile duct adenoma 10.1 PMS2 MLH1
4 appendix carcinoid tumor 10.1 PMS2 MLH1
5 jejunal cancer 10.1 PMS2 MLH1
6 sebaceous adenoma 10.1 PMS2 MLH1
7 colorectal cancer, hereditary nonpolyposis, type 5 10.1 PMS2 MLH1
8 small intestine adenocarcinoma 10.0 PMS2 MLH1
9 duodenum adenocarcinoma 10.0 PMS2 MLH1
10 endometrioid ovary carcinoma 10.0 PMS2 MLH1
11 female reproductive endometrioid cancer 10.0 PMS2 MLH1
12 duodenum cancer 10.0 PMS2 MLH1
13 rectum adenocarcinoma 10.0 PMS2 MLH1
14 colonic benign neoplasm 9.9 PMS2 MLH1
15 juvenile polyposis syndrome 9.9 PMS2 MLH1
16 small intestine cancer 9.9 PMS2 MLH1
17 skin squamous cell carcinoma 9.8 PMS2 MLH1
18 li-fraumeni syndrome 9.8 RB1 PMS2 MLH1
19 melanoma, cutaneous malignant 1 9.8 RB1 PMS2 MLH1
20 intestinal benign neoplasm 9.8 PMS2 MLH1
21 rectum signet ring adenocarcinoma 9.7 PMS2 PMS1 MLH1
22 sebaceous gland neoplasm 9.7 PMS2 PMS1 MLH1
23 sebaceous adenocarcinoma 9.7 PMS2 PMS1 MLH1
24 mismatch repair cancer syndrome 9.7 PMS2 PMS1 MLH1
25 muir-torre syndrome 9.7 PMS2 PMS1 MLH1
26 lynch syndrome i 9.7 PMS2 PMS1 MLH1
27 lynch syndrome 9.7 PMS2 PMS1 MLH1
28 cowden syndrome 9.7 PMS2 PMS1 MLH1
29 contractures, pterygia, and variable skeletal fusions syndrome 1a 9.7 PMS2 PMS1 MLH1
30 gastrointestinal system benign neoplasm 9.6 PMS2 MLH1
31 colorectal cancer, hereditary nonpolyposis, type 6 9.4 PTPN13 PMS2 PMS1 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:

31
# Description HPO Frequency HPO Source Accession
1 ovarian neoplasm 31 HP:0100615
2 endometrial carcinoma 31 HP:0012114
3 hereditary nonpolyposis colorectal carcinoma 31 HP:0006716

Clinical features from OMIM:

614337

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 8.92 MLH1 PMS1 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:

40
Colon, Small Intestine, Skin, Ovary, Breast, Uterus, 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. 56 6
18178629 2008
2
Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome). 56 6
16472587 2006
3
Familial mutations in PMS2 can cause autosomal dominant hereditary nonpolyposis colorectal cancer. 56 6
15887124 2005
4
Hereditary non-polyposis colorectal cancer and the role of hPMS2 and hEXO1 mutations. 56 6
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. 6
27854360 2017
6
PMS2 monoallelic mutation carriers: the known unknown. 56
25856668 2016
7
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 6
25711197 2015
8
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 6
25645574 2015
9
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
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. 6
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. 6
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. 6
25070057 2014
13
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
14
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 6
24310308 2014
15
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants. 6
23709753 2013
16
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
17
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 6
23408351 2013
18
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 6
23535968 2013
19
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 6
19120036 2009
20
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 6
19101824 2009
21
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 6
18772310 2008
22
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 6
18759827 2008
23
The clinical phenotype of Lynch syndrome due to germ-line PMS2 mutations. 56
18602922 2008
24
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 6
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. 6
18496770 2008
26
Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation. 6
17557300 2007
27
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 6
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. 6
16724012 2006
29
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 6
16285940 2005
30
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 6
15849733 2005
31
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 6
16083711 2005
32
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 6
15713769 2005
33
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 6
15655560 2005
34
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 6
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. 6
15256438 2004
36
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
37
Lynch Syndrome 6
20301390 2004
38
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 6
14512394 2003
39
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 6
12655568 2003
40
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 6
12454801 2002
41
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 6
12414824 2002
42
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 6
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. 6
12352241 2002
44
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 6
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. 6
11870161 2002
46
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. 6
11854906 2001
47
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 6
11585727 2001
48
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 6
11598466 2001
49
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 6
11524701 2001
50
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 6
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 229) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PMS2 NM_000535.7(PMS2):c.2T>A (p.Met1Lys)SNV Pathogenic 182809 rs587780059 7:6048649-6048649 7:6009018-6009018
2 PMS2 NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)SNV Pathogenic 9234 rs63750871 7:6042221-6042221 7:6002590-6002590
3 PMS2 NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)SNV Pathogenic 9237 rs63751466 7:6017260-6017260 7:5977629-5977629
4 PMS2 NM_000535.7(PMS2):c.1021del (p.Arg341fs)deletion Pathogenic 9240 rs63750049 7:6029554-6029554 7:5989923-5989923
5 PMS2 NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)SNV Pathogenic 9242 rs63750451 7:6026514-6026514 7:5986883-5986883
6 PMS2 NM_000535.7(PMS2):c.846del (p.Ser283fs)deletion Pathogenic 9243 rs1057515571 7:6035222-6035222 7:5995591-5995591
7 PMS2 NM_000535.7(PMS2):c.325dup (p.Glu109fs)duplication Pathogenic 233300 rs587781716 7:6043348-6043349 7:6003717-6003718
8 PMS2 NM_000535.7(PMS2):c.1237_1239del (p.Lys413del)deletion Pathogenic 91298 rs267608159 7:6027157-6027159 7:5987526-5987528
9 PMS2 NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)SNV Pathogenic 91299 rs587778617 7:6027135-6027135 7:5987504-5987504
10 PMS2 NM_000535.7(PMS2):c.1831dup (p.Ile611fs)duplication Pathogenic 91317 rs63750250 7:6026564-6026565 7:5986933-5986934
11 PMS2 NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)SNV Pathogenic 91321 rs201451115 7:6026457-6026457 7:5986826-5986826
12 PMS2 NM_000535.7(PMS2):c.2174+1G>ASNV Pathogenic 91329 rs267608172 7:6022454-6022454 7:5982823-5982823
13 PMS2 NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)deletion Pathogenic 91331 rs63750695 7:6018306-6018310 7:5978675-5978679
14 PMS2 NM_000535.7(PMS2):c.2239_2242AGAA[1] (p.Lys748fs)short repeat Pathogenic 91333 rs267608173 7:6018256-6018259 7:5978625-5978628
15 PMS2 NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)indel Pathogenic 91366 rs267608150 7:6037019-6037024 7:5997388-5997393
16 PMS2 NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs)short repeat Pathogenic 91375 rs267608154 7:6035204-6035207 7:5995573-5995576
17 PMS2 NM_000535.7(PMS2):c.862_863del (p.Gln288fs)deletion Pathogenic 91376 rs63750246 7:6035205-6035206 7:5995574-5995575
18 PMS2 NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)SNV Pathogenic 91382 rs200640585 7:6031649-6031649 7:5992018-5992018
19 PMS2 NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)SNV Pathogenic 127796 rs587780062 7:6035245-6035245 7:5995614-5995614
20 PMS2 NM_000535.7(PMS2):c.2117del (p.Lys706fs)deletion Pathogenic 142765 rs587782704 7:6022512-6022512 7:5982881-5982881
21 RB1 NM_000321.2(RB1):c.607+1G>ASNV Pathogenic 419970 rs587776789 13:48923160-48923160 13:48349024-48349024
22 PMS2 NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)SNV Pathogenic 802297 7:6035206-6035206 7:5995575-5995575
23 PMS2 NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)SNV Pathogenic/Likely pathogenic 439245 rs1458321358 7:6037051-6037051 7:5997420-5997420
24 PMS2 NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)SNV Pathogenic/Likely pathogenic 439243 rs730881919 7:6043612-6043612 7:6003981-6003981
25 PMS2 NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)SNV Pathogenic/Likely pathogenic 486935 rs1064794577 7:6026925-6026925 7:5987294-5987294
26 PMS2 NM_000535.7(PMS2):c.904-2A>GSNV Pathogenic/Likely pathogenic 140880 rs587781339 7:6031690-6031690 7:5992059-5992059
27 PMS2 NM_000535.7(PMS2):c.538-2A>GSNV Pathogenic/Likely pathogenic 411028 rs758304323 7:6038908-6038908 7:5999277-5999277
28 PMS2 NM_000535.7(PMS2):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 127788 rs587780059 7:6048649-6048649 7:6009018-6009018
29 PMS2 NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)indel Pathogenic/Likely pathogenic 9244 rs1057515572 7:6026664-6026665 7:5987033-5987034
30 PMS2 NM_000535.7(PMS2):c.251-2A>TSNV Pathogenic/Likely pathogenic 183893 rs587779340 7:6043425-6043425 7:6003794-6003794
31 PMS2 NM_000535.7(PMS2):c.164-1G>CSNV Likely pathogenic 186061 rs763308607 7:6043690-6043690 7:6004059-6004059
32 PMS2 NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)SNV Likely pathogenic 9245 rs121434629 7:6045549-6045549 7:6005918-6005918
33 PMS2 NM_000535.7(PMS2):c.825A>G (p.Gln275=)SNV Likely pathogenic 232390 rs876659736 7:6035243-6035243 7:5995612-5995612
34 PMS2 NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)SNV Likely pathogenic 91377 rs267608153 7:6035165-6035165 7:5995534-5995534
35 PMS2 NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)SNV Likely pathogenic 91343 rs587779338 7:6017220-6017220 7:5977589-5977589
36 PMS2 NM_000535.7(PMS2):c.1A>G (p.Met1Val)SNV Likely pathogenic 91323 rs587779333 7:6048650-6048650 7:6009019-6009019
37 PMS2 NM_000535.7(PMS2):c.1144+2T>ASNV Likely pathogenic 91291 rs267608158 7:6029429-6029429 7:5989798-5989798
38 PMS2 NM_000535.7(PMS2):c.1721del (p.Pro574fs)deletion Likely pathogenic 802291 7:6026675-6026675 7:5987044-5987044
39 PMS2 NM_000535.7(PMS2):c.2276-2A>CSNV Likely pathogenic 548761 rs1554294019 7:6017390-6017390 7:5977759-5977759
40 PMS2 NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)duplication Likely pathogenic 548899 rs1554304745 7:6043403-6043404 7:6003772-6003773
41 PMS2 NM_000535.7(PMS2):c.873del (p.Phe291fs)deletion Likely pathogenic 585225 rs1261282733 7:6035195-6035195 7:5995564-5995564
42 RB1 NM_000321.2(RB1):c.273T>A (p.Tyr91Ter)SNV Likely pathogenic 635431 13:48916743-48916743 13:48342607-48342607
43 PMS2 NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)SNV Conflicting interpretations of pathogenicity 480298 rs762100304 7:6026636-6026636 7:5987005-5987005
44 PMS2 NM_000535.7(PMS2):c.706-3C>TSNV Conflicting interpretations of pathogenicity 492288 rs1229860023 7:6037057-6037057 7:5997426-5997426
45 PMS2 NM_000535.7(PMS2):c.354-7C>TSNV Conflicting interpretations of pathogenicity 492278 rs758471869 7:6042274-6042274 7:6002643-6002643
46 PMS2 NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)SNV Conflicting interpretations of pathogenicity 411017 rs1060503111 7:6037047-6037047 7:5997416-5997416
47 PMS2 NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)SNV Conflicting interpretations of pathogenicity 411037 rs760629688 7:6026468-6026468 7:5986837-5986837
48 PMS2 NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)SNV Conflicting interpretations of pathogenicity 237896 rs267608167 7:6026444-6026444 7:5986813-5986813
49 PMS2 NM_000535.7(PMS2):c.917T>A (p.Val306Glu)SNV Conflicting interpretations of pathogenicity 237933 rs786201878 7:6031675-6031675 7:5992044-5992044
50 PMS2 NM_000535.7(PMS2):c.353+6A>GSNV Conflicting interpretations of pathogenicity 237913 rs376449640 7:6043315-6043315 7:6003684-6003684

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

73
# 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:

# Super pathways Score Top Affiliating Genes
1 11.25 RB1 PMS2 MLH1
2
Show member pathways
10.78 PMS2 PMS1 MLH1
3 10.62 PMS2 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 mismatch repair complex GO:0032300 9.13 PMS2 PMS1 MLH1
2 MutLalpha complex GO:0032389 8.8 PMS2 PMS1 MLH1

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

# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.33 PMS2 PMS1 MLH1
2 somatic hypermutation of immunoglobulin genes GO:0016446 8.96 PMS2 MLH1
3 mismatch repair GO:0006298 8.8 PMS2 PMS1 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 9.43 RB1 PMS1 MLH1
2 ATPase activity GO:0016887 9.26 PMS2 PMS1 MLH1 DNAH1
3 MutSalpha complex binding GO:0032407 9.16 PMS2 MLH1
4 mismatched DNA binding GO:0030983 8.8 PMS2 PMS1 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 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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