HNPCC8
MCID: CLR089
MIFTS: 19

Colorectal Cancer, Hereditary Nonpolyposis, Type 8 (HNPCC8)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 8 58 13 74
Hereditary Nonpolyposis Colorectal Cancer Type 8 12 30 6
Hnpcc8 58 12 76
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 8 41
Hereditary Non-Polyposis Colorectal Cancer 8 76

Classifications:



External Ids:

Disease Ontology 12 DOID:0070270
OMIM 58 613244
MeSH 45 D003123
MedGen 43 C2750471
SNOMED-CT via HPO 70 254764001
UMLS 74 C2750471

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

UniProtKB/Swiss-Prot : 76 Hereditary non-polyposis colorectal cancer 8: 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 8, is also known as hereditary nonpolyposis colorectal cancer type 8. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 8 is EPCAM (Epithelial Cell Adhesion Molecule). Affiliated tissues include skin, colon and breast, and related phenotype is hereditary nonpolyposis colorectal carcinoma.

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.

Description from OMIM: 613244

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

33
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 33 HP:0006716

Clinical features from OMIM:

613244

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 8 30 EPCAM

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

42
Skin, Colon, Breast, Ovary, Uterus, Small Intestine

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

# Title Authors Year
1
Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3' exons of TACSTD1. ( 19098912 )
2009
2
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer. ( 16951683 )
2006

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 8:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 EPCAM NM_002354.2(EPCAM): c.859-1462_*1999del deletion Pathogenic GRCh38 Chromosome 2, 47383704: 47388612
2 EPCAM NM_002354.2(EPCAM): c.859-1462_*1999del deletion Pathogenic GRCh37 Chromosome 2, 47610843: 47615751
3 EPCAM NR_030286.1(MIR559): n.278_23134del deletion Pathogenic GRCh38 Chromosome 2, 47377952: 47400851
4 EPCAM NM_002354.2(EPCAM): c.577A> G (p.Ile193Val) single nucleotide variant Uncertain significance rs200676965 GRCh37 Chromosome 2, 47606113: 47606113
5 EPCAM NM_002354.2(EPCAM): c.577A> G (p.Ile193Val) single nucleotide variant Uncertain significance rs200676965 GRCh38 Chromosome 2, 47378974: 47378974
6 EPCAM NM_002354.2(EPCAM): c.556-14A> G single nucleotide variant Pathogenic rs376155665 GRCh38 Chromosome 2, 47378939: 47378939
7 EPCAM NM_002354.2(EPCAM): c.556-14A> G single nucleotide variant Pathogenic rs376155665 GRCh37 Chromosome 2, 47606078: 47606078
8 EPCAM NM_002354.2(EPCAM): c.111C> G (p.Asn37Lys) single nucleotide variant Uncertain significance rs543584983 GRCh37 Chromosome 2, 47600636: 47600636
9 EPCAM NM_002354.2(EPCAM): c.111C> G (p.Asn37Lys) single nucleotide variant Uncertain significance rs543584983 GRCh38 Chromosome 2, 47373497: 47373497
10 EPCAM NM_002354.2(EPCAM): c.179C> T (p.Ser60Leu) single nucleotide variant Uncertain significance rs147494515 GRCh37 Chromosome 2, 47600704: 47600704
11 EPCAM NM_002354.2(EPCAM): c.179C> T (p.Ser60Leu) single nucleotide variant Uncertain significance rs147494515 GRCh38 Chromosome 2, 47373565: 47373565
12 EPCAM NM_002354.2(EPCAM): c.426-20A> G single nucleotide variant Benign rs6744170 GRCh37 Chromosome 2, 47602353: 47602353
13 EPCAM NM_002354.2(EPCAM): c.426-20A> G single nucleotide variant Benign rs6744170 GRCh38 Chromosome 2, 47375214: 47375214
14 EPCAM NM_002354.2(EPCAM): c.859-7C> T single nucleotide variant Benign/Likely benign rs72882786 GRCh38 Chromosome 2, 47385159: 47385159
15 EPCAM NM_002354.2(EPCAM): c.859-7C> T single nucleotide variant Benign/Likely benign rs72882786 GRCh37 Chromosome 2, 47612298: 47612298

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 8.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 8

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