HNPCC6
MCID: CLR055
MIFTS: 25

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 57 13 72
Hereditary Nonpolyposis Colorectal Cancer Type 6 12 29 6
Hnpcc6 57 12 74
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 6 40
Colon Cancer, Hereditary Nonpolyposis, Type 6 57
Hereditary Non-Polyposis Colorectal Cancer 6 74

Characteristics:

HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0070273
MeSH 44 D003123
MedGen 42 C1860896
UMLS 72 C1860896

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

UniProtKB/Swiss-Prot : 74 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, ovary and uterus, 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.

More information from OMIM: 614331 PS120435

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:

32
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 32 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 29 TGFBR2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

(show top 50) (show all 61)
# Title Authors PMID Year
1
Mutational inactivation of transforming growth factor beta receptor type II in microsatellite stable colon cancers. 8 71
9927040 1999
2
HNPCC associated with germline mutation in the TGF-beta type II receptor gene. 8 71
9590282 1998
3
Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability. 8 71
7761852 1995
4
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 71
27854360 2017
5
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 71
25711197 2015
6
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
7
Hereditary colorectal cancer syndromes: American Society of Clinical Oncology Clinical Practice Guideline endorsement of the familial risk-colorectal cancer: European Society for Medical Oncology Clinical Practice Guidelines. 71
25452455 2015
8
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
9
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-Society Task Force on Colorectal Cancer. 71
25003300 2014
10
Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer. 71
25070057 2014
11
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
12
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 71
24310308 2014
13
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
14
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 71
23408351 2013
15
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 71
23535968 2013
16
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 71
19120036 2009
17
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 71
19101824 2009
18
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 71
18759827 2008
19
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 71
18772310 2008
20
No association between MUTYH and MSH6 germline mutations in 64 HNPCC patients. 71
18301448 2008
21
The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome. 71
18496770 2008
22
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 71
17312306 2007
23
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. 71
16724012 2006
24
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 71
16285940 2005
25
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 71
15849733 2005
26
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 71
16083711 2005
27
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. 71
15731757 2005
28
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 71
15713769 2005
29
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 71
15655560 2005
30
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 71
15571801 2004
31
Mismatch repair gene PMS2: disease-causing germline mutations are frequent in patients whose tumors stain negative for PMS2 protein, but paralogous genes obscure mutation detection and interpretation. 71
15256438 2004
32
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 71
15604628 2004
33
Lynch Syndrome 71
20301390 2004
34
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 71
14512394 2003
35
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 71
12655568 2003
36
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 71
12454801 2002
37
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 71
12414824 2002
38
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 71
12362047 2002
39
Impact of gender and parent of origin on the phenotypic expression of hereditary nonpolyposis colorectal cancer in a large Newfoundland kindred with a common MSH2 mutation. 71
12352241 2002
40
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 71
11920650 2002
41
Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression. 71
11870161 2002
42
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. 71
11854906 2001
43
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 71
11585727 2001
44
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 71
11524701 2001
45
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 71
11598466 2001
46
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 71
11245474 2001
47
Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. 71
11208710 2001
48
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 71
10777691 2000
49
A missense mutation in both hMSH2 and APC in an Ashkenazi Jewish HNPCC kindred: implications for clinical screening. 71
10528862 1999
50
Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer. 71
10446963 1999

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 6

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

6 (show all 14)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TGFBR2 NM_003242.6(TGFBR2): c.1583G> A (p.Arg528His) single nucleotide variant Pathogenic rs104893815 3:30732970-30732970 3:30691478-30691478
2 TGFBR2 NM_003242.6(TGFBR2): c.1483C> T (p.Arg495Ter) single nucleotide variant Pathogenic rs104893819 3:30729962-30729962 3:30688470-30688470
3 TGFBR2 NM_003242.6(TGFBR2): c.1597_1598TG[4] (p.Ala535fs) short repeat Pathogenic rs587776769 3:30732988-30732989 3:30691496-30691497
4 TGFBR2 NM_003242.6(TGFBR2): c.944C> T (p.Thr315Met) single nucleotide variant Conflicting interpretations of pathogenicity rs34833812 3:30713619-30713619 3:30672127-30672127
5 TGFBR2 NM_003242.6(TGFBR2): c.1015C> T (p.Arg339Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs761991787 3:30713690-30713690 3:30672198-30672198
6 TGFBR2 NM_003242.6(TGFBR2): c.1159G> A (p.Val387Met) single nucleotide variant Conflicting interpretations of pathogenicity rs35766612 3:30713834-30713834 3:30672342-30672342
7 TGFBR2 NM_001024847.2(TGFBR2): c.166C> A (p.His56Asn) single nucleotide variant Uncertain significance rs138262219 3:30664762-30664762 3:30623270-30623270
8 TGFBR2 NM_003242.6(TGFBR2): c.1207C> T (p.Arg403Cys) single nucleotide variant Uncertain significance rs886038960 3:30713882-30713882 3:30672390-30672390
9 TGFBR2 NM_003242.6(TGFBR2): c.938G> A (p.Arg313Gln) single nucleotide variant Uncertain significance 3:30713613-30713613 3:30672121-30672121
10 TGFBR2 NM_003242.6(TGFBR2): c.413G> A (p.Cys138Tyr) single nucleotide variant Uncertain significance 3:30691911-30691911 3:30650419-30650419
11 TGFBR2 NM_003242.6(TGFBR2): c.1682G> C (p.Gly561Ala) single nucleotide variant Uncertain significance 3:30733069-30733069 3:30691577-30691577
12 TGFBR2 NM_003242.6(TGFBR2): c.569G> A (p.Arg190His) single nucleotide variant Uncertain significance rs780542125 3:30713244-30713244 3:30671752-30671752
13 TGFBR2 NM_003242.6(TGFBR2): c.1126G> A (p.Val376Met) single nucleotide variant Uncertain significance rs755967723 3:30713801-30713801 3:30672309-30672309
14 TGFBR2 NM_003242.6(TGFBR2): c.913C> T (p.Leu305Phe) single nucleotide variant Uncertain significance rs1553630171 3:30713588-30713588 3:30672096-30672096

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

74
# Symbol AA change Variation ID SNP ID
1 TGFBR2 p.Thr315Met VAR_008156 rs34833812

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 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....