MCID: CLR037
MIFTS: 19

Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Categories: Genetic diseases, Gastrointestinal 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 53 13 69
Hnpcc5 53 71
Hereditary Nonpolyposis Colorectal Cancer Type 5 28
Hereditary Non-Polyposis Colorectal Cancer 5 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
cancer onset usually in mid-adulthood


HPO:

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


Classifications:



External Ids:

OMIM 53 614350
MedGen 39 C1833477
MeSH 41 D003123
SNOMED-CT via HPO 65 263681008 254878006
UMLS 69 C1833477

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 hnpcc5, and has symptoms including endometrial carcinoma and hereditary nonpolyposis colorectal carcinoma. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6). Affiliated tissues include skin, colon and breast.

OMIM : 53 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:

53
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

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

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 28 MSH6

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

38
Skin, Colon, Breast, Ovary, Small Intestine, Uterus

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
# 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 38)
# 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.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh37 Chromosome 2, 48033395: 48033398
9 MSH6 NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs267608094 GRCh37 Chromosome 2, 48033780: 48033780
10 MSH6 NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs) deletion Pathogenic rs267608077 GRCh37 Chromosome 2, 48026257: 48026261
11 MSH6 NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro) single nucleotide variant Pathogenic rs63750741 GRCh37 Chromosome 2, 48026468: 48026468
12 MSH6 NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs63750909 GRCh37 Chromosome 2, 48026566: 48026566
13 MSH6 NM_000179.2(MSH6): c.2057G> A (p.Gly686Asp) single nucleotide variant Likely pathogenic rs587779227 GRCh37 Chromosome 2, 48027179: 48027179
14 MSH6 NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs) deletion Pathogenic rs267608058 GRCh37 Chromosome 2, 48027272: 48027275
15 MSH6 NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs) duplication Pathogenic rs587779241 GRCh37 Chromosome 2, 48027657: 48027657
16 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 GRCh37 Chromosome 2, 48027853: 48027853
17 MSH6 NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs) deletion Pathogenic rs63751407 GRCh37 Chromosome 2, 48028175: 48028176
18 MSH6 NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs) duplication Pathogenic rs267608087 GRCh37 Chromosome 2, 48030647: 48030647
19 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
20 MSH6 NM_000179.2(MSH6): c.3439-2A> G single nucleotide variant Likely pathogenic rs267608098 GRCh37 Chromosome 2, 48032047: 48032047
21 MSH6 NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs) duplication Pathogenic rs63751327 GRCh37 Chromosome 2, 48032124: 48032124
22 MSH6 NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs) deletion Pathogenic rs63751319 GRCh37 Chromosome 2, 48033629: 48033635
23 MSH6 NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs) duplication Pathogenic rs267608128 GRCh37 Chromosome 2, 48033636: 48033639
24 MSH6 NM_000179.2(MSH6): c.3959_3962delCAAG (p.Ala1320Glufs) deletion Pathogenic rs267608120 GRCh37 Chromosome 2, 48033748: 48033751
25 MSH6 NM_000179.2 (MSH6): c.3984_3987dupGTCA (p.Leu1330Valfs) duplication Pathogenic rs267608121 GRCh37 Chromosome 2, 48033773: 48033776
26 MSH6 NM_000179.2(MSH6): c.4001G> A (p.Arg1334Gln) single nucleotide variant Pathogenic rs267608122 GRCh37 Chromosome 2, 48033790: 48033790
27 MSH6 NM_000179.2(MSH6): c.467C> G (p.Ser156Ter) single nucleotide variant Pathogenic rs63749873 GRCh37 Chromosome 2, 48023042: 48023042
28 MSH6 NM_000179.2(MSH6): c.1805C> G (p.Ser602Ter) single nucleotide variant Pathogenic rs730881816 GRCh38 Chromosome 2, 47799788: 47799788
29 MSH6 NM_000179.2(MSH6): c.10C> T (p.Gln4Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786201042 GRCh37 Chromosome 2, 48010382: 48010382
30 MSH6 NM_000179.2(MSH6): c.1691C> A (p.Ser564Ter) single nucleotide variant Pathogenic/Likely pathogenic rs864622153 GRCh38 Chromosome 2, 47799674: 47799674
31 MSH6 NM_000179.2(MSH6): c.3753_3756dupATTA (p.Val1253Ilefs) duplication Pathogenic/Likely pathogenic rs876661222 GRCh37 Chromosome 2, 48033449: 48033452
32 MSH6 NM_000179.2(MSH6): c.1350_1351delAT (p.Phe451Hisfs) deletion Pathogenic rs878853702 GRCh37 Chromosome 2, 48026472: 48026473
33 MSH6 NM_000179.2(MSH6): c.908dupT (p.Met303Ilefs) duplication Pathogenic/Likely pathogenic rs1057517551 GRCh37 Chromosome 2, 48026030: 48026030
34 MSH6 NM_000179.2(MSH6): c.3215_3222delGTCCTATG (p.Gly1072Valfs) deletion Likely pathogenic rs1057517552 GRCh38 Chromosome 2, 47803462: 47803469
35 MSH6 NM_000179.2(MSH6): c.741dupA (p.Arg248Thrfs) duplication Pathogenic/Likely pathogenic rs1060502928 GRCh38 Chromosome 2, 47798724: 47798724
36 MSH6 NM_000179.2(MSH6): c.1871delG (p.Gly624Alafs) deletion Pathogenic rs1114167713 GRCh38 Chromosome 2, 47799854: 47799854
37 MSH6 NM_000179.2(MSH6): c.125_132dup (p.Gly45Leufs) duplication Likely pathogenic GRCh37 Chromosome 2, 48010497: 48010504
38 MSH6 NM_000179.2(MSH6): c.3757_3767delGTAGAAGATTA (p.Val1253Phefs) deletion Likely pathogenic GRCh38 Chromosome 2, 47806314: 47806324

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

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