HNPCC7
MCID: CLR100
MIFTS: 18

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 58 74
Hereditary Nonpolyposis Colorectal Cancer Type 7 12 30 6
Hnpcc7 58 12 76
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 7 41
Hereditary Non-Polyposis Colorectal Cancer 7 76

Characteristics:

HPO:

33
colorectal cancer, hereditary nonpolyposis, type 7:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070276
OMIM 58 614385
MeSH 45 D003123
MedGen 43 C1858380
SNOMED-CT via HPO 70 254764001 263681008
UMLS 74 C1858380

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

UniProtKB/Swiss-Prot : 76 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 skin, colon and breast, 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.

Description from OMIM: 614385

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:

33
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 33 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 30 MLH3

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

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

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 7

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

76
# 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

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MLH3 NM_001040108.1(MLH3): c.2116del (p.Thr706Glnfs) deletion Likely pathogenic rs797045117 GRCh38 Chromosome 14, 75047540: 75047540
2 MLH3 NM_001040108.1(MLH3): c.2116del (p.Thr706Glnfs) deletion Likely pathogenic rs797045117 GRCh37 Chromosome 14, 75514243: 75514243
3 MLH3 NM_001040108.1(MLH3): c.70C> G (p.Gln24Glu) single nucleotide variant Uncertain significance rs28937870 GRCh37 Chromosome 14, 75516289: 75516289
4 MLH3 NM_001040108.1(MLH3): c.70C> G (p.Gln24Glu) single nucleotide variant Uncertain significance rs28937870 GRCh38 Chromosome 14, 75049586: 75049586
5 MLH3 NM_001040108.1(MLH3): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs28937871 GRCh37 Chromosome 14, 75514863: 75514863
6 MLH3 NM_001040108.1(MLH3): c.1496A> G (p.Asn499Ser) single nucleotide variant Uncertain significance rs28937871 GRCh38 Chromosome 14, 75048160: 75048160
7 MLH3 NM_001040108.1(MLH3): c.1870G> C (p.Glu624Gln) single nucleotide variant Benign rs28756986 GRCh37 Chromosome 14, 75514489: 75514489
8 MLH3 NM_001040108.1(MLH3): c.1870G> C (p.Glu624Gln) single nucleotide variant Benign rs28756986 GRCh38 Chromosome 14, 75047786: 75047786
9 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh37 Chromosome 14, 75514138: 75514138
10 MLH3 NM_001040108.1(MLH3): c.2221G> T (p.Val741Phe) single nucleotide variant Conflicting interpretations of pathogenicity rs28756990 GRCh38 Chromosome 14, 75047435: 75047435
11 MLH3 NM_001040108.1(MLH3): c.4351G> A (p.Glu1451Lys) single nucleotide variant Benign rs28939071 GRCh37 Chromosome 14, 75483796: 75483796
12 MLH3 NM_001040108.1(MLH3): c.4351G> A (p.Glu1451Lys) single nucleotide variant Benign rs28939071 GRCh38 Chromosome 14, 75017093: 75017093
13 MLH3 NM_001040108.1(MLH3): c.885delG (p.His296Thrfs) deletion Pathogenic GRCh38 Chromosome 14, 75048771: 75048771
14 MLH3 NM_001040108.1(MLH3): c.885delG (p.His296Thrfs) deletion Pathogenic GRCh37 Chromosome 14, 75515474: 75515474
15 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh37 Chromosome 14, 75498772: 75498772
16 MLH3 NM_001040108.1(MLH3): c.3826T> C (p.Trp1276Arg) single nucleotide variant Pathogenic rs121908439 GRCh38 Chromosome 14, 75032069: 75032069
17 MLH3 NM_001040108.1(MLH3): c.2793_2794delGA (p.Asn932Trpfs) deletion Conflicting interpretations of pathogenicity rs754716792 GRCh38 Chromosome 14, 75046862: 75046863
18 MLH3 NM_001040108.1(MLH3): c.2793_2794delGA (p.Asn932Trpfs) deletion Conflicting interpretations of pathogenicity rs754716792 GRCh37 Chromosome 14, 75513565: 75513566

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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