MCID: CLR087
MIFTS: 21

Colorectal Cancer 12

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

Aliases & Classifications for Colorectal Cancer 12

MalaCards integrated aliases for Colorectal Cancer 12:

Name: Colorectal Cancer 12 57 75
Colorectal Cancer, Susceptibility to, 12 57 29 13 6
Crcs12 57 75
Colorectal Cancer, Susceptibility to, on Chromosome 12q24 57
Susceptibility to Colorectal Cancer on Chromosome 12q24 75
Cancer, Colorectal, Susceptibility to, Type 12 40
Colorectal Cancer on Chromosome 12q24 57

Characteristics:

OMIM:

57
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:

32
colorectal cancer 12:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 57 615083
MeSH 44 D015179
SNOMED-CT via HPO 69 263681008 399505005

Summaries for Colorectal Cancer 12

UniProtKB/Swiss-Prot : 75 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 phenotype is colorectal polyposis.

OMIM : 57 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 9.7

Symptoms & Phenotypes for Colorectal Cancer 12

Symptoms via clinical synopsis from OMIM:

57
Abdomen Gastrointestinal:
colorectal adenomas
colorectal polyps
colorectal carcinoma

Neoplasia:
colorectal carcinoma
endometrial cancer


Clinical features from OMIM:

615083

Human phenotypes related to Colorectal Cancer 12:

32
# Description HPO Frequency HPO Source Accession
1 colorectal polyposis 32 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 29 POLE

Anatomical Context for Colorectal Cancer 12

MalaCards organs/tissues related to Colorectal Cancer 12:

41
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:

75
# 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
(show top 50) (show all 3369)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLE NM_006231.3(POLE): c.1270C> G (p.Leu424Val) single nucleotide variant Pathogenic rs483352909 GRCh37 Chromosome 12, 133250250: 133250250
2 POLE NM_006231.3(POLE): c.1270C> G (p.Leu424Val) single nucleotide variant Pathogenic rs483352909 GRCh38 Chromosome 12, 132673664: 132673664
3 POLE NM_006231.3(POLE): c.16G> C (p.Gly6Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202220778 GRCh37 Chromosome 12, 133263886: 133263886
4 POLE NM_006231.3(POLE): c.16G> C (p.Gly6Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs202220778 GRCh38 Chromosome 12, 132687300: 132687300
5 POLE NM_006231.3(POLE): c.6763A> T (p.Ile2255Phe) single nucleotide variant Benign/Likely benign rs73155056 GRCh37 Chromosome 12, 133201381: 133201381
6 POLE NM_006231.3(POLE): c.6763A> T (p.Ile2255Phe) single nucleotide variant Benign/Likely benign rs73155056 GRCh38 Chromosome 12, 132624795: 132624795
7 POLE NM_006231.3(POLE): c.6714C> T (p.Cys2238=) single nucleotide variant Benign/Likely benign rs200082120 GRCh37 Chromosome 12, 133201524: 133201524
8 POLE NM_006231.3(POLE): c.6714C> T (p.Cys2238=) single nucleotide variant Benign/Likely benign rs200082120 GRCh38 Chromosome 12, 132624938: 132624938
9 POLE NM_006231.3(POLE): c.6675C> T (p.Arg2225=) single nucleotide variant Benign/Likely benign rs149973644 GRCh38 Chromosome 12, 132624977: 132624977
10 POLE NM_006231.3(POLE): c.6675C> T (p.Arg2225=) single nucleotide variant Benign/Likely benign rs149973644 GRCh37 Chromosome 12, 133201563: 133201563
11 POLE NM_006231.3(POLE): c.6658-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs531482240 GRCh38 Chromosome 12, 132625001: 132625001
12 POLE NM_006231.3(POLE): c.6658-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs531482240 GRCh37 Chromosome 12, 133201587: 133201587
13 POLE NM_006231.3(POLE): c.6563C> G (p.Ser2188Cys) single nucleotide variant Uncertain significance rs780307061 GRCh38 Chromosome 12, 132625739: 132625739
14 POLE NM_006231.3(POLE): c.6563C> G (p.Ser2188Cys) single nucleotide variant Uncertain significance rs780307061 GRCh37 Chromosome 12, 133202325: 133202325
15 POLE NM_006231.3(POLE): c.6494G> A (p.Arg2165His) single nucleotide variant Benign/Likely benign rs5745068 GRCh38 Chromosome 12, 132626154: 132626154
16 POLE NM_006231.3(POLE): c.6494G> A (p.Arg2165His) single nucleotide variant Benign/Likely benign rs5745068 GRCh37 Chromosome 12, 133202740: 133202740
17 POLE NM_006231.3(POLE): c.6453C> T (p.Tyr2151=) single nucleotide variant Benign/Likely benign rs116076060 GRCh37 Chromosome 12, 133202781: 133202781
18 POLE NM_006231.3(POLE): c.6453C> T (p.Tyr2151=) single nucleotide variant Benign/Likely benign rs116076060 GRCh38 Chromosome 12, 132626195: 132626195
19 POLE NM_006231.3(POLE): c.6418G> A (p.Glu2140Lys) single nucleotide variant Benign/Likely benign rs5745066 GRCh37 Chromosome 12, 133202816: 133202816
20 POLE NM_006231.3(POLE): c.6418G> A (p.Glu2140Lys) single nucleotide variant Benign/Likely benign rs5745066 GRCh38 Chromosome 12, 132626230: 132626230
21 POLE NM_006231.3(POLE): c.6004+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372169366 GRCh37 Chromosome 12, 133210767: 133210767
22 POLE NM_006231.3(POLE): c.6004+5G> T single nucleotide variant Conflicting interpretations of pathogenicity rs372169366 GRCh38 Chromosome 12, 132634181: 132634181
23 POLE NM_006231.3(POLE): c.5804G> A (p.Cys1935Tyr) single nucleotide variant Benign rs5744991 GRCh37 Chromosome 12, 133212485: 133212485
24 POLE NM_006231.3(POLE): c.5804G> A (p.Cys1935Tyr) single nucleotide variant Benign rs5744991 GRCh38 Chromosome 12, 132635899: 132635899
25 POLE NM_006231.3(POLE): c.5678+4C> T single nucleotide variant Benign rs5744973 GRCh37 Chromosome 12, 133214596: 133214596
26 POLE NM_006231.3(POLE): c.5678+4C> T single nucleotide variant Benign rs5744973 GRCh38 Chromosome 12, 132638010: 132638010
27 POLE NM_006231.3(POLE): c.5570A> G (p.Lys1857Arg) single nucleotide variant Benign/Likely benign rs5744971 GRCh37 Chromosome 12, 133214708: 133214708
28 POLE NM_006231.3(POLE): c.5570A> G (p.Lys1857Arg) single nucleotide variant Benign/Likely benign rs5744971 GRCh38 Chromosome 12, 132638122: 132638122
29 POLE NM_006231.3(POLE): c.5135C> T (p.Ala1712Val) single nucleotide variant Benign/Likely benign rs5744950 GRCh37 Chromosome 12, 133218801: 133218801
30 POLE NM_006231.3(POLE): c.5135C> T (p.Ala1712Val) single nucleotide variant Benign/Likely benign rs5744950 GRCh38 Chromosome 12, 132642215: 132642215
31 POLE NM_006231.3(POLE): c.4635C> T (p.Leu1545=) single nucleotide variant Likely benign rs199945393 GRCh37 Chromosome 12, 133219499: 133219499
32 POLE NM_006231.3(POLE): c.4635C> T (p.Leu1545=) single nucleotide variant Likely benign rs199945393 GRCh38 Chromosome 12, 132642913: 132642913
33 POLE NM_006231.3(POLE): c.4259C> T (p.Ala1420Val) single nucleotide variant Benign/Likely benign rs41561818 GRCh37 Chromosome 12, 133220454: 133220454
34 POLE NM_006231.3(POLE): c.4259C> T (p.Ala1420Val) single nucleotide variant Benign/Likely benign rs41561818 GRCh38 Chromosome 12, 132643868: 132643868
35 POLE NM_006231.3(POLE): c.3670_3671delGCinsTT (p.Ala1224Leu) indel Uncertain significance rs864622698 GRCh38 Chromosome 12, 132649801: 132649802
36 POLE NM_006231.3(POLE): c.3670_3671delGCinsTT (p.Ala1224Leu) indel Uncertain significance rs864622698 GRCh37 Chromosome 12, 133226387: 133226388
37 POLE NM_006231.3(POLE): c.3582+5C> T single nucleotide variant Uncertain significance rs775661457 GRCh37 Chromosome 12, 133233717: 133233717
38 POLE NM_006231.3(POLE): c.3582+5C> T single nucleotide variant Uncertain significance rs775661457 GRCh38 Chromosome 12, 132657131: 132657131
39 POLE NM_006231.3(POLE): c.3046G> A (p.Val1016Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147692158 GRCh37 Chromosome 12, 133237569: 133237569
40 POLE NM_006231.3(POLE): c.3046G> A (p.Val1016Met) single nucleotide variant Conflicting interpretations of pathogenicity rs147692158 GRCh38 Chromosome 12, 132660983: 132660983
41 POLE NM_006231.3(POLE): c.2706+5G> A single nucleotide variant Uncertain significance rs375931088 GRCh37 Chromosome 12, 133240585: 133240585
42 POLE NM_006231.3(POLE): c.2706+5G> A single nucleotide variant Uncertain significance rs375931088 GRCh38 Chromosome 12, 132663999: 132663999
43 POLE NM_006231.3(POLE): c.2561+6T> C single nucleotide variant Benign/Likely benign rs116231808 GRCh38 Chromosome 12, 132664364: 132664364
44 POLE NM_006231.3(POLE): c.2561+6T> C single nucleotide variant Benign/Likely benign rs116231808 GRCh37 Chromosome 12, 133240950: 133240950
45 POLE NM_006231.3(POLE): c.2550C> T (p.Ile850=) single nucleotide variant Benign rs5744834 GRCh37 Chromosome 12, 133240967: 133240967
46 POLE NM_006231.3(POLE): c.2550C> T (p.Ile850=) single nucleotide variant Benign rs5744834 GRCh38 Chromosome 12, 132664381: 132664381
47 POLE NM_006231.3(POLE): c.2487G> A (p.Met829Ile) single nucleotide variant Uncertain significance rs372109189 GRCh37 Chromosome 12, 133241030: 133241030
48 POLE NM_006231.3(POLE): c.2487G> A (p.Met829Ile) single nucleotide variant Uncertain significance rs372109189 GRCh38 Chromosome 12, 132664444: 132664444
49 POLE NM_006231.3(POLE): c.2468+10C> T single nucleotide variant Benign/Likely benign rs5744823 GRCh38 Chromosome 12, 132665292: 132665292
50 POLE NM_006231.3(POLE): c.2468+10C> T single nucleotide variant Benign/Likely benign rs5744823 GRCh37 Chromosome 12, 133241878: 133241878

Cosmic variations for Colorectal Cancer 12:

9
(show top 50) (show all 18858)
# 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 5
2 COSM6940205 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.553G>T p.D185Y 23:15809314-15809314 5
3 COSM6452015 ZRSR2 large intestine,colon,carcinoma,adenocarcinoma c.917G>A p.R306Q 23:15820296-15820296 5
4 COSM33067 ZNHIT6 large intestine,colon,carcinoma,adenocarcinoma c.1364T>A p.L455H 1:85657855-85657855 5
5 COSM32824 ZNHIT1 large intestine,colon,carcinoma,adenocarcinoma c.400C>T p.R134W 7:101223799-101223799 5
6 COSM50818 ZNF813 large intestine,colon,carcinoma,adenocarcinoma c.1636G>A p.G546R 19:53491871-53491871 5
7 COSM50465 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.1158G>T p.W386C 19:30444720-30444720 5
8 COSM50466 ZNF536 large intestine,colon,carcinoma,adenocarcinoma c.2533C>G p.L845V 19:30548152-30548152 5
9 COSM50282 ZNF521 large intestine,rectum,carcinoma,adenocarcinoma c.799G>C p.E267Q 18:25227119-25227119 5
10 COSM50281 ZNF521 large intestine,colon,carcinoma,adenocarcinoma c.3524C>T p.T1175M 18:25224394-25224394 5
11 COSM50969 ZNF280D large intestine,colon,carcinoma,adenocarcinoma c.2020A>C p.R674R 15:56658461-56658461 5
12 COSM32994 ZNF217 large intestine,colon,carcinoma,adenocarcinoma c.967G>A p.D323N 20:53581860-53581860 5
13 COSM32679 ZNF155 large intestine,colon,carcinoma,adenocarcinoma c.1421A>G p.H474R 19:43997278-43997278 5
14 COSM50671 ZMIZ2 large intestine,colon,carcinoma,adenocarcinoma c.1850G>A p.R617H 7:44763403-44763403 5
15 COSM50764 ZFHX4 large intestine,colon,carcinoma,adenocarcinoma c.681C>A p.F227L 8:76704769-76704769 5
16 COSM50768 ZFHX4 large intestine,rectum,carcinoma,adenocarcinoma c.8291C>T p.P2764L 8:76855212-76855212 5
17 COSM6964399 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2339C>T p.A780V 16:72957807-72957807 5
18 COSM6944275 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2324C>T p.A775V 16:72957822-72957822 5
19 COSM6946346 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8875A>G p.K2959E 16:72793807-72793807 5
20 COSM6957094 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3412A>T p.I1138F 16:72889767-72889767 5
21 COSM3512090 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.1670C>T p.S557F 16:72958476-72958476 5
22 COSM6953704 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1623G>C p.Q541H 16:72958523-72958523 5
23 COSM6845173 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3863C>T p.T1288M 16:72811578-72811578 5
24 COSM973505 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7928G>A p.R2643H 16:72794754-72794754 5
25 COSM6964664 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2318C>T p.A773V 16:72957828-72957828 5
26 COSM6939325 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9997C>A p.Q3333K 16:72788279-72788279 5
27 COSM6970803 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.7279G>A p.D2427N 16:72795403-72795403 5
28 COSM6845177 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7490C>T p.S2497L 16:72795192-72795192 5
29 COSM6941798 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10754C>G p.S3585C 16:72787522-72787522 5
30 COSM6941382 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.392G>T p.G131V 16:72959754-72959754 5
31 COSM6973708 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.8360C>A p.P2787H 16:72794322-72794322 5
32 COSM6954498 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.10831C>A p.H3611N 16:72787445-72787445 5
33 COSM6964606 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.5555A>C p.Q1852P 16:72797127-72797127 5
34 COSM6960915 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.6692C>T p.P2231L 16:72795990-72795990 5
35 COSM6939326 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4242A>C p.E1414D 16:72798440-72798440 5
36 COSM6964400 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.500C>T p.P167L 16:72959646-72959646 5
37 COSM6941989 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.4251G>C p.Q1417H 16:72798431-72798431 5
38 COSM6941490 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10415C>T p.A3472V 16:72787861-72787861 5
39 COSM6955210 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7381G>A p.E2461K 16:72795301-72795301 5
40 COSM4062694 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.10346C>T p.A3449V 16:72787930-72787930 5
41 COSM6946348 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.4309A>G p.S1437G 16:72798373-72798373 5
42 COSM6955208 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.7804A>G p.T2602A 16:72794878-72794878 5
43 COSM6942790 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1532C>A p.P511H 16:72958614-72958614 5
44 COSM6977044 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.3367C>T p.R1123W 16:72889812-72889812 5
45 COSM6956224 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.950T>A p.L317H 16:72959196-72959196 5
46 COSM6941990 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.1081G>A p.G361R 16:72959065-72959065 5
47 COSM6845156 ZFHX3 large intestine,rectum,carcinoma,adenocarcinoma c.2875G>A p.D959N 16:72950810-72950810 5
48 COSM6978946 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.9227T>G p.M3076R 16:72793455-72793455 5
49 COSM6927022 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2822C>T p.S941L 16:72950863-72950863 5
50 COSM6959968 ZFHX3 large intestine,colon,carcinoma,adenocarcinoma c.2548C>A p.L850I 16:72957598-72957598 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

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