HNPCC7
MCID: CLR100
MIFTS: 25

Colorectal Cancer, Hereditary Nonpolyposis, Type 7 (HNPCC7)

Categories: Cancer diseases, Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 7 57 72
Hereditary Nonpolyposis Colorectal Cancer Type 7 12 29 6
Hnpcc7 57 12 74
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7 40
Hereditary Non-Polyposis Colorectal Cancer 7 74

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070276
MeSH 44 D003123
MedGen 42 C1858380
UMLS 72 C1858380

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

UniProtKB/Swiss-Prot : 74 Hereditary non-polyposis colorectal cancer 7: 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 7, is also known as hereditary nonpolyposis colorectal cancer type 7. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 7 is MLH3 (MutL Homolog 3). 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 mutation in the MLH3 gene on chromosome 14q24.3.

More information from OMIM: 614385 PS120435

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

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

Clinical features from OMIM:

614385

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 7 29 MLH3

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Articles related to Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

(show top 50) (show all 63)
# Title Authors PMID Year
1
The role of hMLH3 in familial colorectal cancer. 8 71
12702580 2003
2
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
3
Lynch Syndrome: A Primer for Urologists and Panel Recommendations. 71
25711197 2015
4
ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 71
25645574 2015
5
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 71
25356965 2015
6
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
7
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
8
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
9
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 71
24493721 2014
10
ACMG technical standards and guidelines for genetic testing for inherited colorectal cancer (Lynch syndrome, familial adenomatous polyposis, and MYH-associated polyposis). 71
24310308 2014
11
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 71
23788249 2013
12
Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts. 71
23408351 2013
13
Informing family members of individuals with Lynch syndrome: a guideline for clinical geneticists. 71
23535968 2013
14
Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. 71
19156873 2009
15
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins. 71
19120036 2009
16
Homozygosity of MSH2 c.1906G-->C germline mutation is associated with childhood colon cancer, astrocytoma and signs of Neurofibromatosis type I. 71
19101824 2009
17
Identification in daily practice of patients with Lynch syndrome (hereditary nonpolyposis colorectal cancer): revised Bethesda guidelines-based approach versus molecular screening. 71
18759827 2008
18
Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors. 71
18772310 2008
19
The first functional study of MLH3 mutations found in cancer patients. 71
18521850 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
MLH3 and EXO1 alterations in familial colorectal cancer patients not fulfilling Amsterdam criteria. 71
17656264 2007
23
Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics. 71
17312306 2007
24
Mutation screening of mismatch repair gene Mlh3 in familial esophageal cancer. 71
16981255 2006
25
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
26
MLH1 germline epimutations as a factor in hereditary nonpolyposis colorectal cancer. 71
16285940 2005
27
Spectrum and frequencies of mutations in MSH2 and MLH1 identified in 1,721 German families suspected of hereditary nonpolyposis colorectal cancer. 71
15849733 2005
28
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. 71
16083711 2005
29
Conversion analysis for mutation detection in MLH1 and MSH2 in patients with colorectal cancer. 71
15713769 2005
30
hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients. 71
15655560 2005
31
Six novel heterozygous MLH1, MSH2, and MSH6 and one homozygous MLH1 germline mutations in hereditary nonpolyposis colorectal cancer. 71
15571801 2004
32
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
33
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 71
15604628 2004
34
Lynch Syndrome 71
20301390 2004
35
Altered expression of MLH1, MSH2, and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. 71
14512394 2003
36
Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia. 71
12655568 2003
37
The founder mutation MSH2*1906G-->C is an important cause of hereditary nonpolyposis colorectal cancer in the Ashkenazi Jewish population. 71
12454801 2002
38
Genetic testing in hereditary non-polyposis colorectal cancer families with a MSH2, MLH1, or MSH6 mutation. 71
12414824 2002
39
Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States. 71
12362047 2002
40
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
41
Prevalence of germline mutations of MLH1 and MSH2 in hereditary nonpolyposis colorectal cancer families from Spain. 71
11920650 2002
42
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
43
Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families. 71
11854906 2001
44
A nonsense mutation in MLH1 causes exon skipping in three unrelated HNPCC families. 71
11585727 2001
45
A role for MLH3 in hereditary nonpolyposis colorectal cancer. 71
11586295 2001
46
The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas. 71
11524701 2001
47
Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal cancer--supporting documentation. 71
11598466 2001
48
MSH6 and MSH3 are rarely involved in genetic predisposition to nonpolypotic colon cancer. 71
11245474 2001
49
Efficient detection of hereditary nonpolyposis colorectal cancer gene carriers by screening for tumor microsatellite instability before germline genetic testing. 71
11208710 2001
50
Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. 71
10777691 2000

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

6 (show all 11)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MLH3 NM_001040108.1(MLH3): c.885del (p.His296fs) deletion Pathogenic 14:75515474-75515474 14:75048771-75048771
2 MLH3 NM_001040108.1(MLH3): c.2116del (p.Thr706fs) deletion Likely pathogenic rs797045117 14:75514243-75514243 14:75047540-75047540
3 MLH3 NM_001040108.1(MLH3): c.2791_2792GA[1] (p.Asn932fs) short repeat Conflicting interpretations of pathogenicity rs754716792 14:75513565-75513566 14:75046862-75046863
4 MLH3 NM_001040108.1(MLH3): c.4091-2A> C single nucleotide variant Uncertain significance rs906969002 14:75485685-75485685 14:75018982-75018982
5 MLH3 NM_001040108.1(MLH3): c.70C> G (p.Gln24Glu) single nucleotide variant Uncertain significance rs28937870 14:75516289-75516289 14:75049586-75049586
6 MLH3 NM_001040108.1(MLH3): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs28937871 14:75514863-75514863 14:75048160-75048160
7 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Uncertain significance rs121908439 14:75498772-75498772 14:75032069-75032069
8 MLH3 NM_001040108.1(MLH3): c.2911G> A (p.Val971Ile) single nucleotide variant Uncertain significance rs41555714 14:75513448-75513448 14:75046745-75046745
9 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Benign/Likely benign rs28756990 14:75514138-75514138 14:75047435-75047435
10 MLH3 NM_001040108.1(MLH3): c.4351G> A (p.Glu1451Lys) single nucleotide variant Benign rs28939071 14:75483796-75483796 14:75017093-75017093
11 MLH3 NM_001040108.1(MLH3): c.1870G> C (p.Glu624Gln) single nucleotide variant Benign rs28756986 14:75514489-75514489 14:75047786-75047786

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7:

74
# Symbol AA change Variation ID SNP ID
1 MLH3 p.Gln24Glu VAR_012946 rs28937870
2 MLH3 p.Asn499Ser VAR_012947 rs28937871
3 MLH3 p.Glu624Gln VAR_012948 rs28756986
4 MLH3 p.Arg647Cys VAR_012949 rs28756987
5 MLH3 p.Ser817Gly VAR_012950 rs143278116
6 MLH3 p.Gly981Ser VAR_012951 rs377337763
7 MLH3 p.Asn1007Ser VAR_012952 rs776639203
8 MLH3 p.Ala1394Thr VAR_012953 rs138006166
9 MLH3 p.Glu1451Lys VAR_012954 rs28939071

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Search GEO for disease gene expression data for Colorectal Cancer, Hereditary Nonpolyposis, Type 7.

Pathways for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Sources for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
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73 UMLS via Orphanet
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