MCID: CLR087
MIFTS: 19

Colorectal Cancer 12

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Cancer diseases

Aliases & Classifications for Colorectal Cancer 12

MalaCards integrated aliases for Colorectal Cancer 12:

Name: Colorectal Cancer 12 53 71
Colorectal Cancer, Susceptibility to, 12 53 28 13
Crcs12 53 71
Colorectal Cancer, Susceptibility to, on Chromosome 12q24 53
Susceptibility to Colorectal Cancer on Chromosome 12q24 71
Colorectal Cancer on Chromosome 12q24 53

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
tumors are microsatellite stable
some tumors may be microsatellite instable and carry somatic mutations in msh mismatch repair genes
onset before age 40 years
patients develop multiple tumors


HPO:

31
colorectal cancer 12:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 53 615083
MeSH 41 D015179
SNOMED-CT via HPO 65 263681008 399505005

Summaries for Colorectal Cancer 12

UniProtKB/Swiss-Prot : 71 Colorectal cancer 12: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable.

MalaCards based summary : Colorectal Cancer 12, is also known as colorectal cancer, susceptibility to, 12, and has symptoms including colorectal polyposis An important gene associated with Colorectal Cancer 12 is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include colon.

OMIM : 53 Colorectal cancer-12 is an autosomal dominant disorder characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset usually occurs before age 40 years. The histologic features of the tumors may be unremarkable (Palles et al., 2013) or show microsatellite instability (MSI) (Elsayed et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of colorectal cancer, see 114500. (615083)

Related Diseases for Colorectal Cancer 12

Symptoms & Phenotypes for Colorectal Cancer 12

Symptoms via clinical synopsis from OMIM:

53
Abdomen Gastroin testinal:
colorectal adenomas
colorectal polyps
colorectal carcinoma

Neoplasia:
colorectal carcinoma
endometrial cancer


Clinical features from OMIM:

615083

Human phenotypes related to Colorectal Cancer 12:

31
# Description HPO Frequency HPO Source Accession
1 colorectal polyposis 31 HP:0200063

Drugs & Therapeutics for Colorectal Cancer 12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Apolipoprotein E Gene and Functional MRI Unknown status NCT01287819

Search NIH Clinical Center for Colorectal Cancer 12

Genetic Tests for Colorectal Cancer 12

Genetic tests related to Colorectal Cancer 12:

# Genetic test Affiliating Genes
1 Colorectal Cancer, Susceptibility to, 12 28 POLE

Anatomical Context for Colorectal Cancer 12

MalaCards organs/tissues related to Colorectal Cancer 12:

38
Colon

Publications for Colorectal Cancer 12

Variations for Colorectal Cancer 12

UniProtKB/Swiss-Prot genetic disease variations for Colorectal Cancer 12:

71
# Symbol AA change Variation ID SNP ID
1 POLE p.Val411Leu VAR_069343
2 POLE p.Leu424Val VAR_069344 rs483352909
3 POLE p.Tyr458Phe VAR_077350

ClinVar genetic disease variations for Colorectal Cancer 12:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLE NM_006231.3(POLE): c.1270C> G (p.Leu424Val) single nucleotide variant Pathogenic,risk factor rs483352909 GRCh37 Chromosome 12, 133250250: 133250250
2 POLE NM_006231.3(POLE): c.1420G> A (p.Val474Ile) single nucleotide variant Pathogenic rs980578884 GRCh38 Chromosome 12, 132673217: 132673217

Cosmic variations for Colorectal Cancer 12:

9 (show top 50) (show all 7256)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA Conf
1 COSM33066 ZZZ3 large intestine,colon,carcinoma,adenocarcinoma c.1366C>T p.P456S 5
2 COSM33067 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 5
3 COSM32824 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 5
4 COSM50818 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1636G>A p.G546R 5
5 COSM50466 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 5
6 COSM50465 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 5
7 COSM50281 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 5
8 COSM50282 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 5
9 COSM50969 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674R 5
10 COSM32994 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 5
11 COSM32679 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 5
12 COSM50671 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 5
13 COSM50768 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 5
14 COSM50764 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 5
15 COSM33074 ZEB2 large intestine,colon,carcinoma,adenocarcinoma c.2947G>A p.D983N 5
16 COSM32424 ZDHHC7 large intestine,colon,carcinoma,adenocarcinoma c.130G>A p.D44N 5
17 COSM32851 ZBTB46 large intestine,colon,carcinoma,adenocarcinoma c.25G>T p.E9* 5
18 COSM33142 YIPF1 large intestine,colon,carcinoma,adenocarcinoma c.475C>T p.R159* 5
19 COSM33161 XRCC1 large intestine,colon,carcinoma,adenocarcinoma c.1048C>T p.R350W 5
20 COSM33194 WRN large intestine,colon,carcinoma,adenocarcinoma c.275G>T p.G92V 5
21 COSM33101 WNT8B large intestine,colon,carcinoma,adenocarcinoma c.157G>C p.E53Q 5
22 COSM32303 WNT16 large intestine,rectum,carcinoma,adenocarcinoma c.376G>A p.V126M 5
23 COSM33107 WNK1 large intestine,colon,carcinoma,adenocarcinoma c.3596A>G p.E1199G 5
24 COSM32899 WAC large intestine,colon,carcinoma,adenocarcinoma c.1424C>T p.S475L 5
25 COSM50645 VWA3B large intestine,colon,carcinoma,adenocarcinoma c.1180C>A p.L394M 5
26 COSM51059 VWA3B large intestine,colon,carcinoma,adenocarcinoma c.312G>T p.L104L 5
27 COSM32407 VWA2 large intestine,colon,carcinoma,adenocarcinoma c.410T>G p.L137R 5
28 COSM32986 VRTN large intestine,colon,carcinoma,adenocarcinoma c.397G>A p.V133M 5
29 COSM32355 VPS13A large intestine,colon,carcinoma,adenocarcinoma c.482G>A p.R161H 5
30 COSM33155 VIM large intestine,colon,carcinoma,adenocarcinoma c.559G>T p.E187* 5
31 COSM6444473 VHL large intestine,rectum,carcinoma,adenocarcinoma c.305C>T p.P102L 5
32 COSM6444474 VHL large intestine,rectum,carcinoma,adenocarcinoma c.566A>T p.E189V 5
33 COSM6444471 VHL large intestine,colon,carcinoma,adenocarcinoma c.418C>T p.L140F 5
34 COSM14353 VHL large intestine,colon,carcinoma,adenocarcinoma c.575C>T p.P192L 5
35 COSM3364891 VHL large intestine,colon,carcinoma,adenocarcinoma c.328C>T p.H110Y 5
36 COSM18024 VHL large intestine,colon,carcinoma,adenocarcinoma c.598C>T p.R200W 5
37 COSM17737 VHL large intestine,colon,carcinoma,adenocarcinoma c.314C>T p.T105M 5
38 COSM6444472 VHL large intestine,colon,carcinoma,adenocarcinoma c.554A>T p.Y185F 5
39 COSM14397 VHL large intestine,colon,carcinoma,adenocarcinoma c.490C>T p.Q164* 5
40 COSM6444475 VHL large intestine,colon,carcinoma,adenocarcinoma c.304C>T p.P102S 5
41 COSM6444470 VHL large intestine,colon,carcinoma,adenocarcinoma c.455C>T p.T152I 5
42 COSM50257 USP32 large intestine,colon,carcinoma,adenocarcinoma c.1283G>A p.G428E 5
43 COSM32422 UQCRC2 large intestine,colon,carcinoma,adenocarcinoma c.176C>G p.S59* 5
44 COSM32283 UQCRC2 large intestine,colon,carcinoma,adenocarcinoma c.623T>A p.F208Y 5
45 COSM33645 UNC79 large intestine,colon,carcinoma,adenocarcinoma c.1-2C>T p.? 5
46 COSM33646 UNC79 large intestine,colon,carcinoma,adenocarcinoma c.3510+2T>C p.? 5
47 COSM53761 UNC79 large intestine,colon,carcinoma,adenocarcinoma c.4495G>A p.V1499I 5
48 COSM33197 UNC13B large intestine,colon,carcinoma,adenocarcinoma c.625C>T p.P209S 5
49 COSM32661 UHRF2 large intestine,colon,carcinoma,adenocarcinoma c.1392+3A>G p.? 5
50 COSM6056917 UGT1A9 large intestine,colon,carcinoma,adenocarcinoma c.1082C>T p.P361L 5

Expression for Colorectal Cancer 12

Search GEO for disease gene expression data for Colorectal Cancer 12.

Pathways for Colorectal Cancer 12

GO Terms for Colorectal Cancer 12

Sources for Colorectal Cancer 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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