HNPCC5
MCID: CLR037
MIFTS: 49

Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (HNPCC5)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases, Reproductive diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 5 57 13 70
Hereditary Nonpolyposis Colorectal Cancer Type 5 12 29 6 15
Hnpcc5 57 12 72
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5 39
Hereditary Non-Polyposis Colorectal Cancer 5 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
incomplete penetrance
cancer onset usually in mid-adulthood

Inheritance:
autosomal dominant


HPO:

31
colorectal cancer, hereditary nonpolyposis, type 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070272
OMIM® 57 614350
OMIM Phenotypic Series 57 PS120435
MeSH 44 D003123
MedGen 41 C1833477
SNOMED-CT via HPO 68 254878006 263681008
UMLS 70 C1833477

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot : 72 Hereditary non-polyposis colorectal cancer 5: 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 5, also known as hereditary nonpolyposis colorectal cancer type 5, is related to silent pituitary adenoma and colorectal cancer 2. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Gastric cancer. Affiliated tissues include colon, small intestine and ovary, and related phenotypes are endometrial carcinoma and hereditary nonpolyposis colorectal carcinoma

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutation in the MSH6 gene on chromosome 2p16.

OMIM® : 57 Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). (614350) (Updated 20-May-2021)

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

(show top 50) (show all 107)
# Related Disease Score Top Affiliating Genes
1 silent pituitary adenoma 10.2 MSH6 MSH2
2 colorectal cancer 2 10.2 MSH2 MLH1
3 intracranial meningioma 10.2 MSH2 MLH1
4 ascending colon cancer 10.2 MSH2 MLH1
5 lower lip cancer 10.2 MSH2 MLH1
6 endometrioid ovary carcinoma 10.2 MSH6 MLH1
7 anal fistula 10.2 MSH2 MLH1
8 lip cancer 10.2 MSH2 BRAF
9 melanocytic nevus syndrome, congenital 10.1 MSH2 MLH1
10 legius syndrome 10.1 MSH6 MSH2
11 b-lymphoblastic leukemia/lymphoma with t 10.1 MSH6 APC
12 renal pelvis transitional cell carcinoma 10.1 MSH6 MSH2 MLH1
13 autosomal dominant non-syndromic intellectual disability 8 10.1 MSH6 MSH2 MLH1
14 ureter, cancer of 10.1 MSH2 MLH1
15 breast-ovarian cancer, familial 1 10.1 MSH6 MSH2 MLH1
16 endometrial hyperplasia 10.1 MSH6 MSH2 MLH1
17 uterine body mixed cancer 10.0 MSH6 MLH1
18 anal squamous cell carcinoma 10.0 MLH1 APC
19 transitional cell carcinoma 10.0 MSH2 MLH1 BRAF
20 signet ring cell adenocarcinoma 10.0 MSH2 MLH1
21 ulcerative colitis 10.0 MSH6 MSH2 MLH1
22 spindle cell intraocular melanoma 10.0 PMS2 MLH1
23 ocular cancer 9.9 MSH6 MSH2 APC
24 transverse colon cancer 9.9 PMS2 MLH1
25 alveolar soft part sarcoma 9.9 MSH2 MLH1 APC
26 esophageal tuberculosis 9.9 PMS2 MSH6
27 fallopian tube endometrioid adenocarcinoma 9.9 PMS2 MSH6
28 colorectal cancer, hereditary nonpolyposis, type 4 9.9 PMS2 MLH1
29 myh-associated polyposis 9.9 MUTYH MSH2 APC
30 villous adenoma 9.9 MLH1 BRAF APC
31 cecum carcinoma 9.9 REEP5 MSH6 MSH2 MLH1
32 familial adenomatous polyposis 2 9.9 MUTYH MLH1 APC
33 gastrointestinal adenoma 9.9 PMS2 MUTYH
34 skin benign neoplasm 9.9 MSH6 MSH2 MLH1 BRAF
35 serrated polyposis syndrome 9.9 MUTYH BRAF APC
36 melanoma, cutaneous malignant 1 9.9 MSH6 MSH2 MLH1 BRAF
37 pituitary carcinoma 9.9 PMS2 MSH6
38 cell type benign neoplasm 9.8 MUTYH MLH1 APC
39 colitis 9.8 MSH6 MSH2 MLH1 BRAF
40 gastric adenocarcinoma 9.8 MLH1 BRAF APC
41 esophagus sarcoma 9.8 PMS2 MSH6 MSH2
42 cervical adenosarcoma 9.8 PMS2 MSH6 MSH2
43 t-cell non-hodgkin lymphoma 9.8 PMS2 MSH6 MSH2
44 rectum signet ring adenocarcinoma 9.8 PMS2 MSH2 MLH1
45 xeroderma pigmentosum, variant type 9.8 MUTYH MSH6 MSH2 MLH1
46 bile duct cancer 9.8 MSH2 MLH1 APC
47 desmoid tumor 9.8 MUTYH APC
48 attenuated familial adenomatous polyposis 9.8 MUTYH MSH6 MSH2 APC
49 rectosigmoid cancer 9.7 PMS2 MUTYH MSH6
50 periampullary adenoma 9.7 PMS2 MSH6 APC

Graphical network of the top 20 diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:



Diseases related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neoplasia:
increased risk of colorectal cancer
increased risk of endometrial cancer
increased risk of cancer

Laboratory Abnormalities:
tumor cells show microsatellite instability

Clinical features from OMIM®:

614350 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.56 MLH1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.56 BRAF MLH1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.56 MLH1 MSH2 MSH6 MUTYH PMS2
4 Increased shRNA abundance GR00327-A 9.46 APC MLH1 MTHFR MUTYH
5 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 8.92 APC AXIN1 BRAF MSH2

MGI Mouse Phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.92 APC AXIN1 BRAF MLH1 MSH2 MSH6
2 digestive/alimentary MP:0005381 9.73 APC AXIN1 BRAF MLH1 MSH2 PMS2
3 integument MP:0010771 9.63 APC BRAF MLH1 MSH2 MSH6 MTHFR
4 mortality/aging MP:0010768 9.61 APC AXIN1 BRAF MLH1 MSH2 MSH6
5 neoplasm MP:0002006 9.17 APC BRAF MLH1 MSH2 MSH6 MUTYH

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 5 29 MSH6

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

(show top 50) (show all 61)
# Title Authors PMID Year
1
Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population. 57 6
25318681 2015
2
Current clinical criteria for Lynch syndrome are not sensitive enough to identify MSH6 mutation carriers. 57 6
20587412 2010
3
Ovarian cancer of endometrioid type as part of the MSH6gene mutation phenotype. 57 6
12376742 2002
4
Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree. 6 57
11333868 2001
5
Familial endometrial cancer in female carriers of MSH6 germline mutations. 57 6
10508506 1999
6
Germline mutation of MSH6 as the cause of hereditary nonpolyposis colorectal cancer. 6 57
9354786 1997
7
Mutations of GTBP in genetically unstable cells. 57 6
7604266 1995
8
Molecular pathology of Lynch syndrome. 6
32141610 2020
9
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 6
28944238 2017
10
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
11
Tumor testing to identify lynch syndrome in two Australian colorectal cancer cohorts. 6
27273229 2017
12
Germline multi-gene hereditary cancer panel testing in an unselected endometrial cancer cohort. 6
27443514 2016
13
Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population. 6
27601186 2016
14
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 6
26681312 2016
15
Inherited Mutations in Women With Ovarian Carcinoma. 6
26720728 2016
16
Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study. 6
26552419 2015
17
Identification of germline genetic mutations in patients with pancreatic cancer. 6
26440929 2015
18
The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer. 6
25307252 2015
19
Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome. 6
25980754 2015
20
Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing. 6
25559809 2015
21
Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patients. 6
24763289 2014
22
The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population. 6
24728189 2014
23
Genetic and clinical determinants of constitutional mismatch repair deficiency syndrome: report from the constitutional mismatch repair deficiency consortium. 6
24440087 2014
24
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database. 6
24362816 2014
25
Population-based molecular screening for Lynch syndrome: implications for personalized medicine. 6
23733757 2013
26
CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein. 6
23621914 2013
27
A multifactorial likelihood model for MMR gene variant classification incorporating probabilities based on sequence bioinformatics and tumor characteristics: a report from the Colon Cancer Family Registry. 6
22949379 2013
28
Frequency of mutations in mismatch repair genes in a population-based study of women with ovarian cancer. 6
23047549 2012
29
MSH6 mutations are frequent in hereditary nonpolyposis colorectal cancer families with normal pMSH6 expression as detected by immunohistochemistry. 6
22495361 2012
30
Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing. 6
22006311 2011
31
Challenges in the identification of MSH6-associated colorectal cancer: rectal location, less typical histology, and a subset with retained mismatch repair function. 6
21836479 2011
32
Prevalence of alterations in DNA mismatch repair genes in patients with young-onset colorectal cancer. 6
21056691 2011
33
Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. 6
21155762 2011
34
Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome. 6
21642682 2011
35
An Ashkenazi founder mutation in the MSH6 gene leading to HNPCC. 6
19851887 2010
36
MSH6 and PMS2 mutation positive Australian Lynch syndrome families: novel mutations, cancer risk and age of diagnosis of colorectal cancer. 6
20487569 2010
37
Risks of Lynch syndrome cancers for MSH6 mutation carriers. 6
20028993 2010
38
Risk of pancreatic cancer in families with Lynch syndrome. 57
19861671 2009
39
Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population. 6
18566915 2009
40
Feasibility of screening for Lynch syndrome among patients with colorectal cancer. 6
18809606 2008
41
A high incidence of MSH6 mutations in Amsterdam criteria II-negative families tested in a diagnostic setting. 6
18625694 2008
42
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 6
18301448 2008
43
Mutation spectrum in HNPCC in the Israeli population. 6
18389388 2008
44
Germline MSH6 mutations are more prevalent in endometrial cancer patient cohorts than hereditary non polyposis colorectal cancer cohorts. 6
18269114 2008
45
Patients with an unexplained microsatellite instable tumour have a low risk of familial cancer. 6
17453009 2007
46
Identification and survival of carriers of mutations in DNA mismatch-repair genes in colon cancer. 6
16807412 2006
47
Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor. 6
16418736 2006
48
Neurofibromatosis von Recklinghausen type I phenotype and early onset of cancers in siblings compound heterozygous for mutations in MSH6. 6
16283678 2005
49
Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome. 6
16283884 2005
50
Cancer risk in hereditary nonpolyposis colorectal cancer due to MSH6 mutations: impact on counseling and surveillance. 6
15236168 2004

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

6 (show top 50) (show all 493)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MSH6 L222* Deletion Pathogenic 8929 GRCh37:
GRCh38:
2 MSH6 MSH6, 1-BP DEL, 594T Deletion Pathogenic 8930 GRCh37:
GRCh38:
3 MSH6 NM_000179.2(MSH6):c.1602del (p.Tyr535fs) Deletion Pathogenic 8933 rs63751234 GRCh37: 2:48026724-48026724
GRCh38: 2:47799585-47799585
4 MSH6 MSH6, 13-KB DEL Deletion Pathogenic 8936 GRCh37:
GRCh38:
5 MSH6 NM_000179.2(MSH6):c.2842G>T (p.Glu948Ter) SNV Pathogenic 694599 rs1572728898 GRCh37: 2:48027964-48027964
GRCh38: 2:47800825-47800825
6 MSH6 NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter) SNV Pathogenic 801697 rs1114167791 GRCh37: 2:48027204-48027204
GRCh38: 2:47800065-47800065
7 MSH6 NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter) SNV Pathogenic 801700 rs1482228994 GRCh37: 2:48028014-48028014
GRCh38: 2:47800875-47800875
8 MSH6 NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter) Duplication Pathogenic 981950 GRCh37: 2:48028051-48028052
GRCh38: 2:47800912-47800913
9 MSH6 NM_000179.2(MSH6):c.2873_2874del (p.Gln958fs) Deletion Pathogenic 496585 rs1553414239 GRCh37: 2:48027995-48027996
GRCh38: 2:47800856-47800857
10 MSH6 NM_000179.2(MSH6):c.1573_3439-429dupinsTAT Duplication Pathogenic 8937 GRCh37: 2:48026695-48031620
GRCh38: 2:47799556-47804481
11 MSH6 NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) Deletion Pathogenic 237133 rs878853702 GRCh37: 2:48026471-48026472
GRCh38: 2:47799332-47799333
12 MSH6 NM_000179.3(MSH6):c.3080dup (p.Ser1028fs) Duplication Pathogenic 822819 rs1572730021 GRCh37: 2:48028201-48028202
GRCh38: 2:47801062-47801063
13 MSH6 NM_001281492.1(MSH6):c.1481del (p.Gly494fs) Deletion Pathogenic 428321 rs777159874 GRCh37: 2:48026992-48026992
GRCh38: 2:47799853-47799853
14 MSH6 NM_001281493.1(MSH6):c.-203_-202CA[1] Microsatellite Pathogenic 491991 rs1553412129 GRCh37: 2:48025825-48025826
GRCh38: 2:47798686-47798687
15 MSH6 NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) Insertion Pathogenic 183794 rs786201084 GRCh37: 2:48033439-48033440
GRCh38: 2:47806300-47806301
16 MSH6 NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) Deletion Pathogenic 182680 rs730881827 GRCh37: 2:48027954-48027955
GRCh38: 2:47800815-47800816
17 MSH6 NM_001281492.1(MSH6):c.2661_2662TC[1] (p.Leu888fs) Microsatellite Pathogenic 89334 rs63751407 GRCh37: 2:48028173-48028174
GRCh38: 2:47801034-47801035
18 MSH6 NM_001281492.1(MSH6):c.2921_2922del (p.Phe974fs) Deletion Pathogenic 89370 rs267608092 GRCh37: 2:48030692-48030693
GRCh38: 2:47803553-47803554
19 MSH6 NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter) SNV Pathogenic 89331 rs587779252 GRCh37: 2:48028142-48028142
GRCh38: 2:47801003-47801003
20 MSH6 NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter) SNV Pathogenic 182659 rs730881816 GRCh37: 2:48026927-48026927
GRCh38: 2:47799788-47799788
21 MSH6 NM_001281492.1(MSH6):c.3309_3312del (p.Lys1103fs) Deletion Pathogenic 36593 rs193922343 GRCh37: 2:48033393-48033396
GRCh38: 2:47806254-47806257
22 MSH6 NM_001281492.1(MSH6):c.3457_3460dup (p.Thr1154fs) Duplication Pathogenic 89475 rs267608128 GRCh37: 2:48033635-48033636
GRCh38: 2:47806496-47806497
23 MSH6 NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) SNV Pathogenic 183723 rs786201042 GRCh37: 2:48010382-48010382
GRCh38: 2:47783243-47783243
24 MSH6 NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) SNV Pathogenic 89472 rs63750139 GRCh37: 2:48033627-48033627
GRCh38: 2:47806488-47806488
25 MSH6 NM_000179.3(MSH6):c.3013C>T SNV Pathogenic 89330 rs63750563 GRCh37: 2:48028135-48028135
GRCh38: 2:47800996-47800996
26 MSH6 NM_001281492.1(MSH6):c.1244_1247del (p.Lys415fs) Deletion Pathogenic 89211 rs63749874 GRCh37: 2:48026755-48026758
GRCh38: 2:47799616-47799619
27 MSH6 NM_000179.3(MSH6):c.3103C>T SNV Pathogenic 89338 rs63749999 GRCh37: 2:48028225-48028225
GRCh38: 2:47801086-47801086
28 MSH6 NM_000179.2(MSH6):c.730C>T (p.Gln244Ter) SNV Pathogenic 89560 rs267608066 GRCh37: 2:48025852-48025852
GRCh38: 2:47798713-47798713
29 MSH6 NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs) Deletion Pathogenic 156507 rs587783056 GRCh37: 2:48026824-48026825
GRCh38: 2:47799685-47799686
30 MSH6 NM_001281493.1(MSH6):c.-256dup Duplication Pathogenic 8932 rs63750955 GRCh37: 2:48025772-48025773
GRCh38: 2:47798633-47798634
31 MSH6 NM_001281492.1(MSH6):c.3124dup (p.Arg1042fs) Duplication Pathogenic 89404 rs63751327 GRCh37: 2:48032123-48032124
GRCh38: 2:47804984-47804985
32 MSH6 NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) SNV Pathogenic 89194 rs63750909 GRCh37: 2:48026566-48026566
GRCh38: 2:47799427-47799427
33 MSH6 NM_000179.3(MSH6):c.3261dup (p.Phe1088fs) Duplication Pathogenic 89364 rs267608078 GRCh37: 2:48030639-48030640
GRCh38: 2:47803500-47803501
34 MSH6 NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) SNV Pathogenic 42472 rs267608094 GRCh37: 2:48033780-48033780
GRCh38: 2:47806641-47806641
35 MSH6 NM_001281492.1(MSH6):c.2145dup (p.Glu716Ter) Duplication Pathogenic 89286 rs587779241 GRCh37: 2:48027656-48027657
GRCh38: 2:47800517-47800518
36 MSH6 NM_001281492.1(MSH6):c.1760_1763del (p.Val587fs) Deletion Pathogenic 89256 rs267608058 GRCh37: 2:48027269-48027272
GRCh38: 2:47800130-47800133
37 MSH6 NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) SNV Pathogenic 89312 rs63751017 GRCh37: 2:48027853-48027853
GRCh38: 2:47800714-47800714
38 MSH6 NM_001281492.1(MSH6):c.3569_3572del (p.Ala1190fs) Deletion Pathogenic 89488 rs267608120 GRCh37: 2:48033745-48033748
GRCh38: 2:47806606-47806609
39 MSH6 NM_001281492.1(MSH6):c.740_744AGAGA[1] (p.Arg248_Arg249insTer) Microsatellite Pathogenic 89174 rs267608077 GRCh37: 2:48026251-48026255
GRCh38: 2:47799112-47799116
40 MSH6 NM_000179.2(MSH6):c.467C>G (p.Ser156Ter) SNV Pathogenic 89534 rs63749873 GRCh37: 2:48023042-48023042
GRCh38: 2:47795903-47795903
41 MSH6 NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) Duplication Pathogenic 89496 rs267608121 GRCh37: 2:48033769-48033770
GRCh38: 2:47806630-47806631
42 MSH6 NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro) SNV Pathogenic 89189 rs63750741 GRCh37: 2:48026468-48026468
GRCh38: 2:47799329-47799329
43 MSH6 NM_000179.3(MSH6):c.3202C>T SNV Pathogenic 89352 rs63749843 GRCh37: 2:48030588-48030588
GRCh38: 2:47803449-47803449
44 MSH6 NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) SNV Pathogenic 89312 rs63751017 GRCh37: 2:48027853-48027853
GRCh38: 2:47800714-47800714
45 MSH6 NM_000179.3(MSH6):c.3202C>T SNV Pathogenic 89352 rs63749843 GRCh37: 2:48030588-48030588
GRCh38: 2:47803449-47803449
46 MSH6 NM_001281492.1(MSH6):c.1416_1419del (p.Glu474fs) Deletion Pathogenic 89224 rs63750735 GRCh37: 2:48026928-48026931
GRCh38: 2:47799789-47799792
47 MSH6 NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) SNV Pathogenic 89314 rs587779246 GRCh37: 2:48027886-48027886
GRCh38: 2:47800747-47800747
48 MSH6 NM_000179.3(MSH6):c.10C>T (p.Gln4Ter) SNV Pathogenic/Likely pathogenic 183723 rs786201042 GRCh37: 2:48010382-48010382
GRCh38: 2:47783243-47783243
49 MSH6 NM_000179.3(MSH6):c.3439-2A>G SNV Likely pathogenic 89391 rs267608098 GRCh37: 2:48032047-48032047
GRCh38: 2:47804908-47804908
50 MSH6 NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs) Duplication Likely pathogenic 234794 rs876661222 GRCh37: 2:48033448-48033449
GRCh38: 2:47806309-47806310

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5:

72
# Symbol AA change Variation ID SNP ID
1 MSH6 p.Gly566Arg VAR_012959 rs63749973
2 MSH6 p.Arg772Trp VAR_043958 rs63750138
3 MSH6 p.Glu1163Val VAR_043969 rs63750252
4 MSH6 p.Glu1193Lys VAR_043970 rs63751328

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 5.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Pathways related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.88 PMS2 MUTYH MSH6 MSH2 MLH1
2
Show member pathways
12.46 MLH1 BRAF AXIN1 APC
3 12.46 MSH6 MSH2 MLH1 BRAF AXIN1 APC
4
Show member pathways
12.32 MSH6 MSH2 MLH1 BRAF AXIN1 APC
5 12.21 MUTYH MSH6 MSH2 MLH1
6 11.89 MSH6 MSH2 BRAF
7 11.79 PMS2 MSH2 MLH1 APC
8 11.68 BRAF AXIN1 APC
9
Show member pathways
11.6 PMS2 MSH6 MSH2 MLH1
10 11.57 MSH6 MSH2 MLH1 BRAF APC
11 11.44 MSH6 MSH2 MLH1
12 11.24 AXIN1 APC
13 11.23 MSH6 MSH2
14
Show member pathways
11.2 MSH2 MLH1
15
Show member pathways
11.15 MSH2 MLH1
16 11.01 AXIN1 APC
17 10.77 AXIN1 APC
18 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Cellular components related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin destruction complex GO:0030877 9.26 AXIN1 APC
2 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
3 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
4 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

Biological processes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.77 PMS2 MUTYH MSH6 MSH2 MLH1
2 metabolic process GO:0008152 9.74 MUTYH MTHFR BRAF
3 cellular response to DNA damage stimulus GO:0006974 9.73 PMS2 MUTYH MSH6 MSH2 MLH1 APC
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.61 MSH6 MSH2 MLH1
5 beta-catenin destruction complex disassembly GO:1904886 9.56 AXIN1 APC
6 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
7 negative regulation of DNA recombination GO:0045910 9.54 MSH6 MSH2
8 positive regulation of isotype switching to IgG isotypes GO:0048304 9.52 MSH2 MLH1
9 positive regulation of helicase activity GO:0051096 9.51 MSH6 MSH2
10 isotype switching GO:0045190 9.5 MSH6 MSH2 MLH1
11 beta-catenin destruction complex assembly GO:1904885 9.49 AXIN1 APC
12 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
13 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
14 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.4 MSH2 MLH1
15 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
16 somatic hypermutation of immunoglobulin genes GO:0016446 9.26 PMS2 MSH6 MSH2 MLH1
17 mismatch repair GO:0006298 9.02 PMS2 MUTYH MSH6 MSH2 MLH1

Molecular functions related to Colorectal Cancer, Hereditary Nonpolyposis, Type 5 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.93 PMS2 MSH6 MSH2 MLH1 BRAF
2 enzyme binding GO:0019899 9.78 MSH6 MSH2 MLH1 AXIN1
3 ATPase activity GO:0016887 9.73 PMS2 MSH6 MSH2 MLH1
4 single-stranded DNA binding GO:0003697 9.63 PMS2 MSH2 MLH1
5 ADP binding GO:0043531 9.52 MSH6 MSH2
6 DNA-dependent ATPase activity GO:0008094 9.51 MSH6 MSH2
7 MutSalpha complex binding GO:0032407 9.5 PMS2 MUTYH MLH1
8 four-way junction DNA binding GO:0000400 9.49 MSH6 MSH2
9 MutLalpha complex binding GO:0032405 9.43 MUTYH MSH6 MSH2
10 single guanine insertion binding GO:0032142 9.4 MSH6 MSH2
11 single thymine insertion binding GO:0032143 9.37 MSH6 MSH2
12 oxidized purine DNA binding GO:0032357 9.33 MUTYH MSH6 MSH2
13 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
14 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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