MCID: CLR037
MIFTS: 20

Colorectal Cancer, Hereditary Nonpolyposis, Type 5

Categories: Genetic diseases, Cancer diseases, Gastrointestinal 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 73
Hereditary Nonpolyposis Colorectal Cancer Type 5 29 6
Hnpcc5 57 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 5 40
Cancer, Colorectal, Nonpolyposis, Hereditary Type 5 40
Hereditary Non-Polyposis Colorectal Cancer 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance
cancer onset usually in mid-adulthood


HPO:

32
colorectal cancer, hereditary nonpolyposis, type 5:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 57 614350
MedGen 42 C1833477
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 254878006
UMLS 73 C1833477

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 5 is MSH6 (MutS Homolog 6). Affiliated tissues include ovary, uterus and skin, and related phenotypes are hereditary nonpolyposis colorectal carcinoma and endometrial carcinoma

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)

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 5

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

Symptoms via clinical synopsis from OMIM:

57
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:

32
# 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

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:

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

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:

75
# 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 top 50) (show all 209)
# 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.651dupT (p.Lys218Terfs) duplication Pathogenic rs63750955 GRCh37 Chromosome 2, 48025773: 48025773
5 MSH6 NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs) deletion Pathogenic rs63751234 GRCh37 Chromosome 2, 48026724: 48026724
6 MSH6 NM_000179.2(MSH6): c.1602delC (p.Tyr535Thrfs) deletion Pathogenic rs63751234 GRCh38 Chromosome 2, 47799585: 47799585
7 MSH6 MSH6, 13-KB DEL deletion Pathogenic
8 MSH6 NM_000179.2(MSH6): c.1573_3439-429dupinsTAT duplication Pathogenic GRCh38 Chromosome 2, 47799556: 47804481
9 MSH6 NM_000179.2(MSH6): c.1573_3439-429dupinsTAT duplication Pathogenic GRCh37 Chromosome 2, 48026695: 48031620
10 MSH6 MSH6, TRP1024TER undetermined variant Pathogenic
11 MSH6 NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh37 Chromosome 2, 48033395: 48033398
12 MSH6 NM_000179.2(MSH6): c.3699_3702delAGAA (p.Lys1233Asnfs) deletion Pathogenic rs193922343 GRCh38 Chromosome 2, 47806256: 47806259
13 MSH6 NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs267608094 GRCh37 Chromosome 2, 48033780: 48033780
14 MSH6 NM_000179.2(MSH6): c.3991C> T (p.Arg1331Ter) single nucleotide variant Pathogenic rs267608094 GRCh38 Chromosome 2, 47806641: 47806641
15 MSH6 NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs) deletion Pathogenic rs267608077 GRCh37 Chromosome 2, 48026257: 48026261
16 MSH6 NM_000179.2(MSH6): c.1135_1139delAGAGA (p.Arg379Terfs) deletion Pathogenic rs267608077 GRCh38 Chromosome 2, 47799118: 47799122
17 MSH6 NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro) single nucleotide variant Pathogenic rs63750741 GRCh37 Chromosome 2, 48026468: 48026468
18 MSH6 NM_000179.2(MSH6): c.1346T> C (p.Leu449Pro) single nucleotide variant Pathogenic rs63750741 GRCh38 Chromosome 2, 47799329: 47799329
19 MSH6 NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs63750909 GRCh37 Chromosome 2, 48026566: 48026566
20 MSH6 NM_000179.2(MSH6): c.1444C> T (p.Arg482Ter) single nucleotide variant Pathogenic rs63750909 GRCh38 Chromosome 2, 47799427: 47799427
21 MSH6 NM_000179.2(MSH6): c.2057G> A (p.Gly686Asp) single nucleotide variant Likely pathogenic rs587779227 GRCh37 Chromosome 2, 48027179: 48027179
22 MSH6 NM_000179.2(MSH6): c.2057G> A (p.Gly686Asp) single nucleotide variant Likely pathogenic rs587779227 GRCh38 Chromosome 2, 47800040: 47800040
23 MSH6 NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs) deletion Pathogenic rs63750075 GRCh37 Chromosome 2, 48027184: 48027185
24 MSH6 NM_000179.2(MSH6): c.2062_2063delGT (p.Val688Leufs) deletion Pathogenic rs63750075 GRCh38 Chromosome 2, 47800045: 47800046
25 MSH6 NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs) deletion Pathogenic rs267608058 GRCh37 Chromosome 2, 48027272: 48027275
26 MSH6 NM_000179.2(MSH6): c.2150_2153delTCAG (p.Val717Alafs) deletion Pathogenic rs267608058 GRCh38 Chromosome 2, 47800133: 47800136
27 MSH6 NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs) duplication Pathogenic rs587779241 GRCh37 Chromosome 2, 48027657: 48027657
28 MSH6 NM_000179.2(MSH6): c.2535dupT (p.Glu846Terfs) duplication Pathogenic rs587779241 GRCh38 Chromosome 2, 47800518: 47800518
29 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 GRCh37 Chromosome 2, 48027853: 48027853
30 MSH6 NM_000179.2(MSH6): c.2731C> T (p.Arg911Ter) single nucleotide variant Pathogenic rs63751017 GRCh38 Chromosome 2, 47800714: 47800714
31 MSH6 NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter) single nucleotide variant Pathogenic rs63750563 GRCh37 Chromosome 2, 48028135: 48028135
32 MSH6 NM_000179.2(MSH6): c.3013C> T (p.Arg1005Ter) single nucleotide variant Pathogenic rs63750563 GRCh38 Chromosome 2, 47800996: 47800996
33 MSH6 NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs) deletion Pathogenic rs63751407 GRCh37 Chromosome 2, 48028175: 48028176
34 MSH6 NM_000179.2(MSH6): c.3053_3054delTC (p.Leu1018Hisfs) deletion Pathogenic rs63751407 GRCh38 Chromosome 2, 47801036: 47801037
35 MSH6 NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs63749843 GRCh37 Chromosome 2, 48030588: 48030588
36 MSH6 NM_000179.2(MSH6): c.3202C> T (p.Arg1068Ter) single nucleotide variant Pathogenic rs63749843 GRCh38 Chromosome 2, 47803449: 47803449
37 MSH6 NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs) duplication Pathogenic rs267608087 GRCh37 Chromosome 2, 48030647: 48030647
38 MSH6 NM_000179.2(MSH6): c.3261dupC (p.Phe1088Leufs) duplication Pathogenic rs267608087 GRCh38 Chromosome 2, 47803508: 47803508
39 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh37 Chromosome 2, 48030697: 48030698
40 MSH6 NM_000179.2(MSH6): c.3311_3312delTT (p.Phe1104Trpfs) deletion Pathogenic rs267608092 GRCh38 Chromosome 2, 47803558: 47803559
41 MSH6 NM_000179.2(MSH6): c.3439-2A> G single nucleotide variant Likely pathogenic rs267608098 GRCh37 Chromosome 2, 48032047: 48032047
42 MSH6 NM_000179.2(MSH6): c.3439-2A> G single nucleotide variant Likely pathogenic rs267608098 GRCh38 Chromosome 2, 47804908: 47804908
43 MSH6 NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs) duplication Pathogenic rs63751327 GRCh37 Chromosome 2, 48032124: 48032124
44 MSH6 NM_000179.2(MSH6): c.3514dupA (p.Arg1172Lysfs) duplication Pathogenic rs63751327 GRCh38 Chromosome 2, 47804985: 47804985
45 MSH6 NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter) single nucleotide variant Pathogenic rs63750139 GRCh37 Chromosome 2, 48033627: 48033627
46 MSH6 NM_000179.2(MSH6): c.3838C> T (p.Gln1280Ter) single nucleotide variant Pathogenic rs63750139 GRCh38 Chromosome 2, 47806488: 47806488
47 MSH6 NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs) deletion Pathogenic rs63751319 GRCh37 Chromosome 2, 48033629: 48033635
48 MSH6 NM_000179.2(MSH6): c.3840_3846delGGAGACT (p.Glu1281Leufs) deletion Pathogenic rs63751319 GRCh38 Chromosome 2, 47806490: 47806496
49 MSH6 NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs) duplication Pathogenic rs267608128 GRCh37 Chromosome 2, 48033636: 48033639
50 MSH6 NM_000179.2(MSH6): c.3847_3850dupATTA (p.Thr1284Asnfs) duplication Pathogenic rs267608128 GRCh38 Chromosome 2, 47806497: 47806500

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....