MCID: CLR055
MIFTS: 17

Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Categories: Genetic diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 6 57 13 73
Hereditary Nonpolyposis Colorectal Cancer Type 6 29 6
Hnpcc6 57 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6 40
Colon Cancer, Hereditary Nonpolyposis, Type 6 57
Hereditary Non-Polyposis Colorectal Cancer 6 75

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614331
MedGen 42 C1860896
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008
UMLS 73 C1860896

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

UniProtKB/Swiss-Prot : 75 Hereditary non-polyposis colorectal cancer 6: 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 6, is also known as hereditary nonpolyposis colorectal cancer type 6. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 6 is TGFBR2 (Transforming Growth Factor Beta Receptor 2). Affiliated tissues include colon, uterus and ovary, and related phenotype is hereditary nonpolyposis colorectal carcinoma.

Description from OMIM: 614331

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Clinical features from OMIM:

614331

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

32
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 6 29 TGFBR2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

75
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Thr315Met VAR_008156 rs34833812

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TGFBR2 NM_001024847.2(TGFBR2): c.1676_1677dupTG (p.Ala560Trpfs) duplication Pathogenic rs587776769 GRCh38 Chromosome 3, 30691496: 30691497
2 TGFBR2 NM_001024847.2(TGFBR2): c.1676_1677dupTG (p.Ala560Trpfs) duplication Pathogenic rs587776769 GRCh37 Chromosome 3, 30732988: 30732989
3 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
4 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 6.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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
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