MCID: CLR037
MIFTS: 28

Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Categories: Genetic diseases, Cancer 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 54 13 69
Hereditary Nonpolyposis Colorectal Cancer Type 5 29
Hereditary Non-Polyposis Colorectal Cancer 5 71
Hnpcc5 71

Characteristics:

OMIM:

54
Miscellaneous:
cancer onset usually in mid-adulthood
incomplete penetrance

Inheritance:
autosomal dominant


HPO:

32
colorectal cancer, hereditary nonpolyposis, type 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614350
MedGen 40 C1833477
MeSH 42 D003123
SNOMED-CT via HPO 65 263681008 254878006

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot : 71 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, is also known as hereditary nonpolyposis colorectal cancer type 5, and has symptoms including hereditary nonpolyposis colorectal carcinoma and endometrial carcinoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6). The drugs Fluorouracil and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include colon, skin and small intestine.

OMIM : 54
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)

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

Symptoms via clinical synopsis from OMIM:

54

Laboratory- Abnormalities:
tumor cells show microsatellite instability

Neoplasia:
increased risk of cancer
increased risk of colorectal cancer
increased risk of endometrial cancer


Clinical features from OMIM:

614350

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

32
id Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716
2 endometrial carcinoma 32 HP:0012114

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

Drugs for Colorectal Cancer, Hereditary Nonpolyposis, Type 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fluorouracil Approved Phase 3 51-21-8 3385
2
Levoleucovorin Approved Phase 3 68538-85-2
3
Oxaliplatin Approved, Investigational Phase 3 61825-94-3 5310940 9887054 43805 6857599
4
Bevacizumab Approved, Investigational Phase 3 216974-75-3
5
Aspirin Approved, Vet_approved Phase 3 50-78-2 2244
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
7
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
8 Antibodies Phase 3
9 Antibodies, Monoclonal Phase 3
10 Antidotes Phase 3
11 Antimetabolites Phase 3
12 Antimetabolites, Antineoplastic Phase 3
13 Bone Density Conservation Agents Phase 3
14 Calcium, Dietary Phase 3
15 Hematinics Phase 3
16 Immunoglobulins Phase 3
17 Immunosuppressive Agents Phase 3
18 Micronutrients Phase 3
19 Protective Agents Phase 3
20 Trace Elements Phase 3
21 Vitamin B Complex Phase 3
22 Vitamins Phase 3
23 Angiogenesis Inhibitors Phase 3
24 Angiogenesis Modulating Agents Phase 3
25 Endothelial Growth Factors Phase 3
26 Mitogens Phase 3
27 Analgesics Phase 3
28 Analgesics, Non-Narcotic Phase 3
29 Anti-Inflammatory Agents Phase 3
30 Anti-Inflammatory Agents, Non-Steroidal Phase 3
31 Antipyretics Phase 3
32 Antirheumatic Agents Phase 3
33 Cyclooxygenase Inhibitors Phase 3
34 Fibrinolytic Agents Phase 3
35 Peripheral Nervous System Agents Phase 3
36 Platelet Aggregation Inhibitors Phase 3
37 Cola Nutraceutical Phase 3
38 Folate Nutraceutical Phase 3
39 Vitamin B9 Nutraceutical Phase 3
40
Pancrelipase Approved 53608-75-6
41 pancreatin

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Combination Chemotherapy With or Without Atezolizumab in Treating Patients With Stage III Colon Cancer and Deficient DNA Mismatch Repair Recruiting NCT02912559 Phase 3 Atezolizumab;Fluorouracil;Leucovorin Calcium;Oxaliplatin
2 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3 Fluorouracil;Leucovorin Calcium;Oxaliplatin
3 Finding the Best Dose of Aspirin to Prevent Lynch Syndrome Cancers Not yet recruiting NCT02497820 Phase 3 Aspirin
4 Hypodontia and Ovarian Cancer Unknown status NCT01470235
5 Pancreatic Cancer Early Detection Program Recruiting NCT02206360

Search 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:

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

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

39
Colon, Skin, Small Intestine, Ovary, Uterus, Bone, Endothelial

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

71
id 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

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

6 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1 MSH6 MSH6, 1-BP DEL, LEU222TER deletion Pathogenic
2 MSH6 MSH6, 1-BP DEL, 594T deletion Pathogenic
3 MSH6 NM_000179.2(MSH6): c.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh38 Chromosome 2, 47798634: 47798634
4 MSH6 NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs) deletion Pathogenic rs63751234 GRCh37 Chromosome 2, 48026724: 48026724
5 MSH6 MSH6, 13-KB DEL deletion Pathogenic
6 MSH6 NM_000179.2(MSH6): c.1573_3439-429dupinsTAT duplication Pathogenic GRCh38 Chromosome 2, 47799556: 47804481
7 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
8 MSH6 NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs267608094 GRCh37 Chromosome 2, 48033780: 48033780
9 MSH6 NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs) deletion Pathogenic rs267608077 GRCh37 Chromosome 2, 48026257: 48026261
10 MSH6 NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs63750909 GRCh37 Chromosome 2, 48026566: 48026566
11 MSH6 NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs) deletion Pathogenic rs267608058 GRCh37 Chromosome 2, 48027272: 48027275
12 MSH6 NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs) duplication Pathogenic rs587779241 GRCh37 Chromosome 2, 48027657: 48027657
13 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 GRCh37 Chromosome 2, 48027853: 48027853
14 MSH6 NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs) deletion Pathogenic rs63751407 GRCh37 Chromosome 2, 48028175: 48028176
15 MSH6 NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs) duplication Pathogenic rs267608087 GRCh37 Chromosome 2, 48030647: 48030647
16 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
17 MSH6 NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs) duplication Pathogenic rs63751327 GRCh37 Chromosome 2, 48032124: 48032124
18 MSH6 NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs) deletion Pathogenic rs63751319 GRCh37 Chromosome 2, 48033629: 48033635
19 MSH6 NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs) deletion Pathogenic rs267608120 GRCh37 Chromosome 2, 48033748: 48033751
20 MSH6 NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter) single nucleotide variant Pathogenic rs730881816 GRCh38 Chromosome 2, 47799788: 47799788
21 MSH6 NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201042 GRCh37 Chromosome 2, 48010382: 48010382
22 MSH6 NM_000179.2(MSH6): c.908dupT (p.Met303Ilefs) duplication Pathogenic/Likely pathogenic rs1057517551 GRCh37 Chromosome 2, 48026030: 48026030
23 MSH6 NM_000179.2(MSH6): c.3215_3222delGTCCTATG (p.Gly1072Valfs) deletion Likely pathogenic rs1057517552 GRCh38 Chromosome 2, 47803462: 47803469
24 MSH6 NM_000179.2(MSH6): c.1871delG (p.Gly624Alafs) deletion Pathogenic rs1114167713 GRCh38 Chromosome 2, 47799854: 47799854

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

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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