HNPCC6
MCID: CLR055
MIFTS: 19

Colorectal Cancer, Hereditary Nonpolyposis, Type 6 (HNPCC6)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic 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 58 13 74
Hereditary Nonpolyposis Colorectal Cancer Type 6 12 30 6
Hnpcc6 58 12 76
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6 41
Colon Cancer, Hereditary Nonpolyposis, Type 6 58
Hereditary Non-Polyposis Colorectal Cancer 6 76

Characteristics:

HPO:

33
colorectal cancer, hereditary nonpolyposis, type 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070273
OMIM 58 614331
MeSH 45 D003123
MedGen 43 C1860896
SNOMED-CT via HPO 70 254764001 263681008
UMLS 74 C1860896

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

UniProtKB/Swiss-Prot : 76 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, skin and breast, and related phenotype is hereditary nonpolyposis colorectal carcinoma.

Disease Ontology : 12 A Lynch syndrome that has material basis in heterozygous mutation in the TGFBR2 gene on chromosome 3p22.

Description from OMIM: 614331

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

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

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

Clinical features from OMIM:

614331

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 30 TGFBR2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 6:

# Title Authors Year
1
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. ( 15731757 )
2005
2
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. ( 9927040 )
1999
3
HNPCC associated with germline mutation in the TGF-beta type II receptor gene. ( 9590282 )
1998
4
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. ( 7761852 )
1995

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

76
# 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 (show all 28)
# 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.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh37 Chromosome 3, 30713619: 30713619
4 TGFBR2 NM_003242.5(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 GRCh38 Chromosome 3, 30672127: 30672127
5 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh37 Chromosome 3, 30732970: 30732970
6 TGFBR2 NM_003242.5(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 GRCh38 Chromosome 3, 30691478: 30691478
7 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh37 Chromosome 3, 30729962: 30729962
8 TGFBR2 NM_003242.5(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 GRCh38 Chromosome 3, 30688470: 30688470
9 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh37 Chromosome 3, 30713834: 30713834
10 TGFBR2 NM_003242.5(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 GRCh38 Chromosome 3, 30672342: 30672342
11 TGFBR2 NM_003242.5(TGFBR2): c.94+16293C> A single nucleotide variant Uncertain significance rs138262219 GRCh37 Chromosome 3, 30664762: 30664762
12 TGFBR2 NM_003242.5(TGFBR2): c.94+16293C> A single nucleotide variant Uncertain significance rs138262219 GRCh38 Chromosome 3, 30623270: 30623270
13 TGFBR2 NM_001024847.2(TGFBR2): c.1282C> T (p.Arg428Cys) single nucleotide variant Uncertain significance rs886038960 GRCh37 Chromosome 3, 30713882: 30713882
14 TGFBR2 NM_001024847.2(TGFBR2): c.1282C> T (p.Arg428Cys) single nucleotide variant Uncertain significance rs886038960 GRCh38 Chromosome 3, 30672390: 30672390
15 TGFBR2 NM_001024847.2(TGFBR2): c.1090C> T (p.Arg364Trp) single nucleotide variant Uncertain significance rs761991787 GRCh38 Chromosome 3, 30672198: 30672198
16 TGFBR2 NM_001024847.2(TGFBR2): c.1090C> T (p.Arg364Trp) single nucleotide variant Uncertain significance rs761991787 GRCh37 Chromosome 3, 30713690: 30713690
17 TGFBR2 NM_001024847.2(TGFBR2): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs780542125 GRCh38 Chromosome 3, 30671752: 30671752
18 TGFBR2 NM_001024847.2(TGFBR2): c.644G> A (p.Arg215His) single nucleotide variant Uncertain significance rs780542125 GRCh37 Chromosome 3, 30713244: 30713244
19 TGFBR2 NM_003242.5(TGFBR2): c.1126G> A (p.Val376Met) single nucleotide variant Uncertain significance rs755967723 GRCh37 Chromosome 3, 30713801: 30713801
20 TGFBR2 NM_003242.5(TGFBR2): c.1126G> A (p.Val376Met) single nucleotide variant Uncertain significance rs755967723 GRCh38 Chromosome 3, 30672309: 30672309
21 TGFBR2 NM_003242.5(TGFBR2): c.913C> T (p.Leu305Phe) single nucleotide variant Uncertain significance rs1553630171 GRCh37 Chromosome 3, 30713588: 30713588
22 TGFBR2 NM_003242.5(TGFBR2): c.913C> T (p.Leu305Phe) single nucleotide variant Uncertain significance rs1553630171 GRCh38 Chromosome 3, 30672096: 30672096
23 TGFBR2 NM_003242.5(TGFBR2): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 30713613: 30713613
24 TGFBR2 NM_003242.5(TGFBR2): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 30672121: 30672121
25 TGFBR2 NM_001024847.2(TGFBR2): c.488G> A (p.Cys163Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 30691911: 30691911
26 TGFBR2 NM_001024847.2(TGFBR2): c.488G> A (p.Cys163Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 30650419: 30650419
27 TGFBR2 NM_001024847.2(TGFBR2): c.1757G> C (p.Gly586Ala) single nucleotide variant Uncertain significance GRCh37 Chromosome 3, 30733069: 30733069
28 TGFBR2 NM_001024847.2(TGFBR2): c.1757G> C (p.Gly586Ala) single nucleotide variant Uncertain significance GRCh38 Chromosome 3, 30691577: 30691577

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

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