MCID: CLR039
MIFTS: 18

Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Categories: Genetic diseases, Cancer diseases, Gastrointestinal diseases

Aliases & Classifications for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

MalaCards integrated aliases for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

Name: Colorectal Cancer, Hereditary Nonpolyposis, Type 4 57 13 73
Hereditary Nonpolyposis Colorectal Cancer Type 4 29 6
Hnpcc4 57 75
Cancer, Colorectal, Nonpolyposis, Hereditary, Type 4 40
Hereditary Non-Polyposis Colorectal Cancer 4 75

Characteristics:

HPO:

32
colorectal cancer, hereditary nonpolyposis, type 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614337
MedGen 42 C1838333
MeSH 44 D003123
SNOMED-CT via HPO 69 263681008 254878006 123843001
UMLS 73 C1838333

Summaries for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

UniProtKB/Swiss-Prot : 75 Hereditary non-polyposis colorectal cancer 4: 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 4, is also known as hereditary nonpolyposis colorectal cancer type 4. An important gene associated with Colorectal Cancer, Hereditary Nonpolyposis, Type 4 is PMS2 (PMS1 Homolog 2, Mismatch Repair System Component). Affiliated tissues include ovary, uterus and skin, and related phenotypes are hereditary nonpolyposis colorectal carcinoma and endometrial carcinoma

Description from OMIM: 614337

Related Diseases for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Symptoms & Phenotypes for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Clinical features from OMIM:

614337

Human phenotypes related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

32
# Description HPO Frequency HPO Source Accession
1 hereditary nonpolyposis colorectal carcinoma 32 HP:0006716
2 endometrial carcinoma 32 HP:0012114
3 ovarian neoplasm 32 HP:0100615

Drugs & Therapeutics for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Search Clinical Trials , NIH Clinical Center for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Genetic Tests for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Genetic tests related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

# Genetic test Affiliating Genes
1 Hereditary Nonpolyposis Colorectal Cancer Type 4 29 PMS2

Anatomical Context for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

MalaCards organs/tissues related to Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

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

Publications for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

Variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

75
# Symbol AA change Variation ID SNP ID
1 PMS2 p.Glu705Lys VAR_012974 rs267608161
2 PMS2 p.Ser46Ile VAR_066838 rs121434629
3 PMS2 p.Ser46Asn VAR_078518 rs121434629
4 PMS2 p.Cys843Tyr VAR_078538 rs267608174

ClinVar genetic disease variations for Colorectal Cancer, Hereditary Nonpolyposis, Type 4:

6
(show top 50) (show all 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh37 Chromosome 7, 6042221: 6042221
2 PMS2 NM_000535.6(PMS2): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic rs63750871 GRCh38 Chromosome 7, 6002590: 6002590
3 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh37 Chromosome 7, 6017260: 6017260
4 PMS2 NM_000535.6(PMS2): c.2404C> T (p.Arg802Ter) single nucleotide variant Pathogenic rs63751466 GRCh38 Chromosome 7, 5977629: 5977629
5 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh38 Chromosome 7, 5989923: 5989923
6 PMS2 NM_000535.6(PMS2): c.1021delA (p.Arg341Glyfs) deletion Pathogenic rs63750049 GRCh37 Chromosome 7, 6029554: 6029554
7 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh37 Chromosome 7, 6026514: 6026514
8 PMS2 NM_000535.6(PMS2): c.1882C> T (p.Arg628Ter) single nucleotide variant Pathogenic rs63750451 GRCh38 Chromosome 7, 5986883: 5986883
9 PMS2 NM_000535.6(PMS2): c.846delG (p.Ser283Valfs) deletion Pathogenic rs1057515571 GRCh38 Chromosome 7, 5995591: 5995591
10 PMS2 NM_000535.6(PMS2): c.846delG (p.Ser283Valfs) deletion Pathogenic rs1057515571 GRCh37 Chromosome 7, 6035222: 6035222
11 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh37 Chromosome 7, 6045549: 6045549
12 PMS2 NM_000535.6(PMS2): c.137G> T (p.Ser46Ile) single nucleotide variant Likely pathogenic rs121434629 GRCh38 Chromosome 7, 6005918: 6005918
13 PMS2 NM_000535.6(PMS2): c.1144+2T> A single nucleotide variant Likely pathogenic rs267608158 GRCh37 Chromosome 7, 6029429: 6029429
14 PMS2 NM_000535.6(PMS2): c.1144+2T> A single nucleotide variant Likely pathogenic rs267608158 GRCh38 Chromosome 7, 5989798: 5989798
15 PMS2 NM_000535.6(PMS2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs58777933 GRCh37 Chromosome 7, 6048650: 6048650
16 PMS2 NM_000535.6(PMS2): c.1A> G (p.Met1Val) single nucleotide variant Likely pathogenic rs58777933 GRCh38 Chromosome 7, 6009019: 6009019
17 PMS2 NM_000535.6(PMS2): c.2174+1G> A single nucleotide variant Pathogenic rs267608172 GRCh37 Chromosome 7, 6022454: 6022454
18 PMS2 NM_000535.6(PMS2): c.2174+1G> A single nucleotide variant Pathogenic rs267608172 GRCh38 Chromosome 7, 5982823: 5982823
19 PMS2 NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs) deletion Pathogenic rs267608173 GRCh37 Chromosome 7, 6018256: 6018259
20 PMS2 NM_000535.6(PMS2): c.2243_2246delAGAA (p.Lys748Metfs) deletion Pathogenic rs267608173 GRCh38 Chromosome 7, 5978625: 5978628
21 PMS2 NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs) indel Pathogenic rs267608150 GRCh37 Chromosome 7, 6037019: 6037024
22 PMS2 NM_000535.6(PMS2): c.736_741delCCCCCTinsTGTGTGTGAAG (p.Pro246Cysfs) indel Pathogenic rs267608150 GRCh38 Chromosome 7, 5997388: 5997393
23 PMS2 NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs) deletion Pathogenic rs63750246 GRCh37 Chromosome 7, 6035205: 6035206
24 PMS2 NM_000535.6(PMS2): c.862_863delCA (p.Gln288Valfs) deletion Pathogenic rs63750246 GRCh38 Chromosome 7, 5995574: 5995575
25 PMS2 NM_000535.6(PMS2): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs200640585 GRCh37 Chromosome 7, 6031649: 6031649
26 PMS2 NM_000535.6(PMS2): c.943C> T (p.Arg315Ter) single nucleotide variant Pathogenic rs200640585 GRCh38 Chromosome 7, 5992018: 5992018
27 PMS2 NM_000535.6(PMS2): c.904-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781339 GRCh37 Chromosome 7, 6031690: 6031690
28 PMS2 NM_000535.6(PMS2): c.904-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs587781339 GRCh38 Chromosome 7, 5992059: 5992059
29 PMS2 NM_000535.6(PMS2): c.697C> G (p.Gln233Glu) single nucleotide variant Uncertain significance rs587779343 GRCh38 Chromosome 7, 5999116: 5999116
30 PMS2 NM_000535.6(PMS2): c.697C> G (p.Gln233Glu) single nucleotide variant Uncertain significance rs587779343 GRCh37 Chromosome 7, 6038747: 6038747
31 PMS2 NM_000535.6(PMS2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs587780059 GRCh38 Chromosome 7, 6009018: 6009018
32 PMS2 NM_000535.6(PMS2): c.2T> A (p.Met1Lys) single nucleotide variant Pathogenic rs587780059 GRCh37 Chromosome 7, 6048649: 6048649
33 PMS2 NM_000535.6(PMS2): c.2174C> T (p.Ala725Val) single nucleotide variant Uncertain significance rs150630090 GRCh37 Chromosome 7, 6022455: 6022455
34 PMS2 NM_000535.6(PMS2): c.2174C> T (p.Ala725Val) single nucleotide variant Uncertain significance rs150630090 GRCh38 Chromosome 7, 5982824: 5982824
35 PMS2 NM_000535.6(PMS2): c.1717A> T (p.Thr573Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs63751211 GRCh37 Chromosome 7, 6026679: 6026679
36 PMS2 NM_000535.6(PMS2): c.1717A> T (p.Thr573Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs63751211 GRCh38 Chromosome 7, 5987048: 5987048
37 PMS2 NM_000535.6(PMS2): c.1693T> G (p.Leu565Val) single nucleotide variant Uncertain significance rs786202870 GRCh37 Chromosome 7, 6026703: 6026703
38 PMS2 NM_000535.6(PMS2): c.1693T> G (p.Leu565Val) single nucleotide variant Uncertain significance rs786202870 GRCh38 Chromosome 7, 5987072: 5987072
39 PMS2 NM_000535.6(PMS2): c.1559C> T (p.Ala520Val) single nucleotide variant Conflicting interpretations of pathogenicity rs63751300 GRCh37 Chromosome 7, 6026837: 6026837
40 PMS2 NM_000535.6(PMS2): c.1559C> T (p.Ala520Val) single nucleotide variant Conflicting interpretations of pathogenicity rs63751300 GRCh38 Chromosome 7, 5987206: 5987206
41 PMS2 NM_000535.6(PMS2): c.1266G> A (p.Glu422=) single nucleotide variant Benign/Likely benign rs138049175 GRCh37 Chromosome 7, 6027130: 6027130
42 PMS2 NM_000535.6(PMS2): c.1266G> A (p.Glu422=) single nucleotide variant Benign/Likely benign rs138049175 GRCh38 Chromosome 7, 5987499: 5987499
43 PMS2 NM_000535.6(PMS2): c.1080A> G (p.Ile360Met) single nucleotide variant Conflicting interpretations of pathogenicity rs567102013 GRCh37 Chromosome 7, 6029495: 6029495
44 PMS2 NM_000535.6(PMS2): c.1080A> G (p.Ile360Met) single nucleotide variant Conflicting interpretations of pathogenicity rs567102013 GRCh38 Chromosome 7, 5989864: 5989864
45 PMS2 NM_000535.6(PMS2): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs116314131 GRCh37 Chromosome 7, 6031648: 6031648
46 PMS2 NM_000535.6(PMS2): c.944G> A (p.Arg315Gln) single nucleotide variant Uncertain significance rs116314131 GRCh38 Chromosome 7, 5992017: 5992017
47 PMS2 NM_000535.6(PMS2): c.595C> T (p.Arg199Cys) single nucleotide variant Uncertain significance rs372297364 GRCh37 Chromosome 7, 6038849: 6038849
48 PMS2 NM_000535.6(PMS2): c.595C> T (p.Arg199Cys) single nucleotide variant Uncertain significance rs372297364 GRCh38 Chromosome 7, 5999218: 5999218
49 PMS2 NM_000535.6(PMS2): c.477G> A (p.Val159=) single nucleotide variant Benign/Likely benign rs147701251 GRCh37 Chromosome 7, 6042144: 6042144
50 PMS2 NM_000535.6(PMS2): c.477G> A (p.Val159=) single nucleotide variant Benign/Likely benign rs147701251 GRCh38 Chromosome 7, 6002513: 6002513

Expression for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

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GO Terms for Colorectal Cancer, Hereditary Nonpolyposis, Type 4

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