CRCS12
MCID: CLR087
MIFTS: 23

Colorectal Cancer 12 (CRCS12)

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

Aliases & Classifications for Colorectal Cancer 12

MalaCards integrated aliases for Colorectal Cancer 12:

Name: Colorectal Cancer 12 58 76
Colorectal Cancer, Susceptibility to, 12 58 30 13 6
Crcs12 58 76
Colorectal Cancer, Susceptibility to, on Chromosome 12q24 58
Susceptibility to Colorectal Cancer on Chromosome 12q24 76
Cancer, Colorectal, Susceptibility to, Type 12 41
Colorectal Cancer on Chromosome 12q24 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
colorectal cancer 12:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 615083
MeSH 45 D015179
SNOMED-CT via HPO 70 263681008 399505005 68453008

Summaries for Colorectal Cancer 12

UniProtKB/Swiss-Prot : 76 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, also known as colorectal cancer, susceptibility to, 12, is related to colorectal cancer. An important gene associated with Colorectal Cancer 12 is POLE (DNA Polymerase Epsilon, Catalytic Subunit). Affiliated tissues include colon and liver, and related phenotypes are colorectal polyposis and carcinoma

OMIM : 58 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

Diseases in the Colorectal Cancer family:

Colorectal Cancer 1 Colorectal Cancer 2
Colorectal Cancer 3 Colorectal Cancer 5
Colorectal Cancer 6 Colorectal Cancer 7
Colorectal Cancer 8 Colorectal Cancer 9
Colorectal Cancer 10 Colorectal Cancer 11
Colorectal Cancer 12 Familial Colorectal Cancer
Familial Colorectal Cancer Type X

Diseases related to Colorectal Cancer 12 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 colorectal cancer 9.9

Symptoms & Phenotypes for Colorectal Cancer 12

Human phenotypes related to Colorectal Cancer 12:

33
# Description HPO Frequency HPO Source Accession
1 colorectal polyposis 33 HP:0200063
2 carcinoma 33 HP:0030731

Symptoms via clinical synopsis from OMIM:

58
Abdomen Gastrointestinal:
colorectal adenomas
colorectal polyps
colorectal carcinoma

Neoplasia:
colorectal carcinoma
endometrial cancer

Clinical features from OMIM:

615083

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 30 POLE

Anatomical Context for Colorectal Cancer 12

MalaCards organs/tissues related to Colorectal Cancer 12:

42
Colon, Liver

Publications for Colorectal Cancer 12

Articles related to Colorectal Cancer 12:

# Title Authors Year
1
Liver metastasis from colorectal cancer 12 years after liver transplantation. ( 28190365 )
2017

Variations for Colorectal Cancer 12

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

76
# Symbol AA change Variation ID SNP ID
1 POLE p.Val411Leu VAR_069343 rs105751994
2 POLE p.Leu424Val VAR_069344 rs483352909
3 POLE p.Tyr458Phe VAR_077350

ClinVar genetic disease variations for Colorectal Cancer 12:

6 (show top 50) (show all 4111)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLE NM_006231.3(POLE): c.16G> C (p.Gly6Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202220778 GRCh37 Chromosome 12, 133263886: 133263886
2 POLE NM_006231.3(POLE): c.16G> C (p.Gly6Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202220778 GRCh38 Chromosome 12, 132687300: 132687300
3 POLE NM_006231.3(POLE): c.6763A> T (p.Ile2255Phe) single nucleotide variant Benign/Likely benign rs73155056 GRCh37 Chromosome 12, 133201381: 133201381
4 POLE NM_006231.3(POLE): c.6763A> T (p.Ile2255Phe) single nucleotide variant Benign/Likely benign rs73155056 GRCh38 Chromosome 12, 132624795: 132624795
5 POLE NM_006231.3(POLE): c.6714C> T (p.Cys2238=) single nucleotide variant Benign/Likely benign rs200082120 GRCh37 Chromosome 12, 133201524: 133201524
6 POLE NM_006231.3(POLE): c.6714C> T (p.Cys2238=) single nucleotide variant Benign/Likely benign rs200082120 GRCh38 Chromosome 12, 132624938: 132624938
7 POLE NM_006231.3(POLE): c.6675C> T (p.Arg2225=) single nucleotide variant Benign/Likely benign rs149973644 GRCh38 Chromosome 12, 132624977: 132624977
8 POLE NM_006231.3(POLE): c.6675C> T (p.Arg2225=) single nucleotide variant Benign/Likely benign rs149973644 GRCh37 Chromosome 12, 133201563: 133201563
9 POLE NM_006231.3(POLE): c.6658-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs531482240 GRCh38 Chromosome 12, 132625001: 132625001
10 POLE NM_006231.3(POLE): c.6658-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs531482240 GRCh37 Chromosome 12, 133201587: 133201587
11 POLE NM_006231.3(POLE): c.6563C> G (p.Ser2188Cys) single nucleotide variant Uncertain significance rs780307061 GRCh38 Chromosome 12, 132625739: 132625739
12 POLE NM_006231.3(POLE): c.6563C> G (p.Ser2188Cys) single nucleotide variant Uncertain significance rs780307061 GRCh37 Chromosome 12, 133202325: 133202325
13 POLE NM_006231.3(POLE): c.6494G> A (p.Arg2165His) single nucleotide variant Benign/Likely benign rs5745068 GRCh38 Chromosome 12, 132626154: 132626154
14 POLE NM_006231.3(POLE): c.6494G> A (p.Arg2165His) single nucleotide variant Benign/Likely benign rs5745068 GRCh37 Chromosome 12, 133202740: 133202740
15 POLE NM_006231.3(POLE): c.6453C> T (p.Tyr2151=) single nucleotide variant Benign/Likely benign rs116076060 GRCh37 Chromosome 12, 133202781: 133202781
16 POLE NM_006231.3(POLE): c.6453C> T (p.Tyr2151=) single nucleotide variant Benign/Likely benign rs116076060 GRCh38 Chromosome 12, 132626195: 132626195
17 POLE NM_006231.3(POLE): c.6418G> A (p.Glu2140Lys) single nucleotide variant Benign/Likely benign rs5745066 GRCh37 Chromosome 12, 133202816: 133202816
18 POLE NM_006231.3(POLE): c.6418G> A (p.Glu2140Lys) single nucleotide variant Benign/Likely benign rs5745066 GRCh38 Chromosome 12, 132626230: 132626230
19 POLE NM_006231.3(POLE): c.6004+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372169366 GRCh37 Chromosome 12, 133210767: 133210767
20 POLE NM_006231.3(POLE): c.6004+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372169366 GRCh38 Chromosome 12, 132634181: 132634181
21 POLE NM_006231.3(POLE): c.5804G> A (p.Cys1935Tyr) single nucleotide variant Benign rs5744991 GRCh37 Chromosome 12, 133212485: 133212485
22 POLE NM_006231.3(POLE): c.5804G> A (p.Cys1935Tyr) single nucleotide variant Benign rs5744991 GRCh38 Chromosome 12, 132635899: 132635899
23 POLE NM_006231.3(POLE): c.5678+4C> T single nucleotide variant Benign rs5744973 GRCh37 Chromosome 12, 133214596: 133214596
24 POLE NM_006231.3(POLE): c.5678+4C> T single nucleotide variant Benign rs5744973 GRCh38 Chromosome 12, 132638010: 132638010
25 POLE NM_006231.3(POLE): c.5570A> G (p.Lys1857Arg) single nucleotide variant Benign/Likely benign rs5744971 GRCh37 Chromosome 12, 133214708: 133214708
26 POLE NM_006231.3(POLE): c.5570A> G (p.Lys1857Arg) single nucleotide variant Benign/Likely benign rs5744971 GRCh38 Chromosome 12, 132638122: 132638122
27 POLE NM_006231.3(POLE): c.5135C> T (p.Ala1712Val) single nucleotide variant Benign/Likely benign rs5744950 GRCh37 Chromosome 12, 133218801: 133218801
28 POLE NM_006231.3(POLE): c.5135C> T (p.Ala1712Val) single nucleotide variant Benign/Likely benign rs5744950 GRCh38 Chromosome 12, 132642215: 132642215
29 POLE NM_006231.3(POLE): c.4635C> T (p.Leu1545=) single nucleotide variant Likely benign rs199945393 GRCh37 Chromosome 12, 133219499: 133219499
30 POLE NM_006231.3(POLE): c.4635C> T (p.Leu1545=) single nucleotide variant Likely benign rs199945393 GRCh38 Chromosome 12, 132642913: 132642913
31 POLE NM_006231.3(POLE): c.4259C> T (p.Ala1420Val) single nucleotide variant Benign/Likely benign rs41561818 GRCh37 Chromosome 12, 133220454: 133220454
32 POLE NM_006231.3(POLE): c.4259C> T (p.Ala1420Val) single nucleotide variant Benign/Likely benign rs41561818 GRCh38 Chromosome 12, 132643868: 132643868
33 POLE NM_006231.3(POLE): c.3670_3671delGCinsTT (p.Ala1224Leu) indel Uncertain significance rs864622698 GRCh38 Chromosome 12, 132649801: 132649802
34 POLE NM_006231.3(POLE): c.3670_3671delGCinsTT (p.Ala1224Leu) indel Uncertain significance rs864622698 GRCh37 Chromosome 12, 133226387: 133226388
35 POLE NM_006231.3(POLE): c.3582+5C> T single nucleotide variant Uncertain significance rs775661457 GRCh37 Chromosome 12, 133233717: 133233717
36 POLE NM_006231.3(POLE): c.3582+5C> T single nucleotide variant Uncertain significance rs775661457 GRCh38 Chromosome 12, 132657131: 132657131
37 POLE NM_006231.3(POLE): c.3046G> A (p.Val1016Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147692158 GRCh37 Chromosome 12, 133237569: 133237569
38 POLE NM_006231.3(POLE): c.3046G> A (p.Val1016Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147692158 GRCh38 Chromosome 12, 132660983: 132660983
39 POLE NM_006231.3(POLE): c.2706+5G> A single nucleotide variant Uncertain significance rs375931088 GRCh37 Chromosome 12, 133240585: 133240585
40 POLE NM_006231.3(POLE): c.2706+5G> A single nucleotide variant Uncertain significance rs375931088 GRCh38 Chromosome 12, 132663999: 132663999
41 POLE NM_006231.3(POLE): c.2561+6T> C single nucleotide variant Benign/Likely benign rs116231808 GRCh38 Chromosome 12, 132664364: 132664364
42 POLE NM_006231.3(POLE): c.2561+6T> C single nucleotide variant Benign/Likely benign rs116231808 GRCh37 Chromosome 12, 133240950: 133240950
43 POLE NM_006231.3(POLE): c.2550C> T (p.Ile850=) single nucleotide variant Benign rs5744834 GRCh37 Chromosome 12, 133240967: 133240967
44 POLE NM_006231.3(POLE): c.2550C> T (p.Ile850=) single nucleotide variant Benign rs5744834 GRCh38 Chromosome 12, 132664381: 132664381
45 POLE NM_006231.3(POLE): c.2487G> A (p.Met829Ile) single nucleotide variant Uncertain significance rs372109189 GRCh37 Chromosome 12, 133241030: 133241030
46 POLE NM_006231.3(POLE): c.2487G> A (p.Met829Ile) single nucleotide variant Uncertain significance rs372109189 GRCh38 Chromosome 12, 132664444: 132664444
47 POLE NM_006231.3(POLE): c.2468+10C> T single nucleotide variant Benign/Likely benign rs5744823 GRCh38 Chromosome 12, 132665292: 132665292
48 POLE NM_006231.3(POLE): c.2468+10C> T single nucleotide variant Benign/Likely benign rs5744823 GRCh37 Chromosome 12, 133241878: 133241878
49 POLE NM_006231.3(POLE): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs754686646 GRCh38 Chromosome 12, 132665343: 132665343
50 POLE NM_006231.3(POLE): c.2427G> A (p.Lys809=) single nucleotide variant Likely benign rs754686646 GRCh37 Chromosome 12, 133241929: 133241929

Cosmic variations for Colorectal Cancer 12:

9 (show top 50) (show all 19207)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM33066 ZZZ3 large intestine,colon,carcinoma,adenocarcinoma c.1366C>T p.P456S 1:77631989-77631989 0
2 COSM6940205 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 0
3 COSM4378460 ZRSR2 large intestine,NS,carcinoma,adenocarcinoma c.1385G>A p.R462Q 23:15823178-15823178 0
4 COSM6452015 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 0
5 COSM33067 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 0
6 COSM32824 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 0
7 COSM50818 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1636G>A p.G546R 19:53491871-53491871 0
8 COSM50466 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 0
9 COSM50465 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 0
10 COSM50282 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 0
11 COSM50281 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 0
12 COSM33404 ZNF385D large intestine,NS,carcinoma,adenocarcinoma c.1161C>G p.H387Q 3:21421241-21421241 0
13 COSM50969 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674R 15:56658461-56658461 0
14 COSM1645478 ZNF276 large intestine,NS,carcinoma,adenocarcinoma c.1373G>A p.C458Y 16:89737999-89737999 0
15 COSM32994 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 0
16 COSM32679 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 0
17 COSM33366 ZMYM4 large intestine,NS,carcinoma,adenocarcinoma c.4228C>T p.R1410W 1:35415633-35415633 0
18 COSM50671 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 0
19 COSM50720 ZFPM2 large intestine,NS,carcinoma,adenocarcinoma c.3163G>T p.A1055S 8:105803245-105803245 0
20 COSM304455 ZFHX4 large intestine,NS,carcinoma,adenocarcinoma c.5144A>C p.N1715T 8:76852065-76852065 0
21 COSM50764 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 0
22 COSM50768 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 8:76855212-76855212 0
23 COSM6964399 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2339C>T p.A780V 16:72957807-72957807 0
24 COSM6974762 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9467G>A p.S3156N 16:72788809-72788809 0
25 COSM6944275 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2324C>T p.A775V 16:72957822-72957822 0
26 COSM6946346 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8875A>G p.K2959E 16:72793807-72793807 0
27 COSM6959905 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.6079G>A p.D2027N 16:72796603-72796603 0
28 COSM6957094 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3412A>T p.I1138F 16:72889767-72889767 0
29 COSM3512090 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.1670C>T p.S557F 16:72958476-72958476 0
30 COSM278205 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.3623C>T p.S1208L 16:72811945-72811945 0
31 COSM6961537 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.4043C>T p.P1348L 16:72798639-72798639 0
32 COSM6975522 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.4175C>T p.P1392L 16:72798507-72798507 0
33 COSM6953704 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1623G>C p.Q541H 16:72958523-72958523 0
34 COSM6975520 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.10851G>A p.W3617* 16:72787425-72787425 0
35 COSM1233350 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.305C>T p.A102V 16:72959841-72959841 0
36 COSM6845173 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3863C>T p.T1288M 16:72811578-72811578 0
37 COSM6932345 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.2880G>A p.M960I 16:72950805-72950805 0
38 COSM6940009 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.4543G>C p.E1515Q 16:72798139-72798139 0
39 COSM973505 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 0
40 COSM6964664 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2318C>T p.A773V 16:72957828-72957828 0
41 COSM6938356 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.3122A>C p.K1041T 16:72950563-72950563 0
42 COSM1270844 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.6445C>T p.R2149C 16:72796237-72796237 0
43 COSM6939325 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 0
44 COSM6952354 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.217G>A p.E73K 16:72959929-72959929 0
45 COSM6973025 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.2156A>G p.Y719C 16:72957990-72957990 0
46 COSM6941382 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 0
47 COSM3276750 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.10192G>C p.A3398P 16:72788084-72788084 0
48 COSM6973708 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8360C>A p.P2787H 16:72794322-72794322 0
49 COSM6954498 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.10831C>A p.H3611N 16:72787445-72787445 0
50 COSM6955826 ZFHX3 large intestine,NS,carcinoma,adenocarcinoma c.5237C>T p.A1746V 16:72797445-72797445 0

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

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