Details of Disease

General Information of Disease (ID: DIS4FXJX)

Disease Name Colorectal cancer, susceptibility to, 12
Synonyms
CRCS12; susceptibility to colorectal cancer 12; colorectal cancer, susceptibility to, on chromosome 12Q24; colorectal cancer caused by mutation in POLE; colorectal cancer, susceptibility to, type 12; colorectal cancer, susceptibility to, 12; POLE colorectal cancer
Definition Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene.
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DIS98MYE: Inherited disease susceptibility
DIS4FXJX: Colorectal cancer, susceptibility to, 12
Disease Identifiers
MONDO ID
MONDO_0014038
UMLS CUI
C3554460
OMIM ID
615083
MedGen ID
767374

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 26 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BMP4 TTD3BSX Strong Genetic Variation [1]
CDH1 TTLAWO6 Strong Genetic Variation [2]
CDH3 TTARMD9 Strong Genetic Variation [1]
CUBN TT9YLCR Strong Genetic Variation [3]
CYP17A1 TTRA5BZ Strong Genetic Variation [4]
EPHA5 TTV9KOD Strong Genetic Variation [5]
ERAP1 TT60XFL Strong Genetic Variation [3]
FADS2 TTT2VDU Strong Genetic Variation [6]
FKBP5 TT0J5KQ Strong Genetic Variation [1]
GATA3 TT45KOB Strong Genetic Variation [7]
GREM1 TTOUZN5 Strong Genetic Variation [6]
KCNH1 TT9XKUC Strong Genetic Variation [8]
LPAR1 TTQ6S1K Strong Genetic Variation [1]
LRP1 TTF2V7I Strong Genetic Variation [1]
NOTCH4 TTXDIK2 Strong Genetic Variation [9]
PIGU TT2LHI6 Strong Genetic Variation [1]
SH2B3 TT36N7Z Strong Genetic Variation [6]
SLC22A16 TTITAVR Strong Genetic Variation [10]
SLC22A3 TTG2UMS Strong Genetic Variation [11]
SLCO2A1 TTKVTQO Strong Genetic Variation [9]
SMAD6 TTON5JB Strong Genetic Variation [1]
SMAD7 TT0J32Z Strong Genetic Variation [6]
SMAD9 TTX8EBV Strong Genetic Variation [1]
TCF7L2 TT80QAL Strong Genetic Variation [9]
TDP2 TTYF26D Strong Genetic Variation [12]
TRPC6 TTRBT3W Strong Genetic Variation [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 26 DTT(s)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC25A26 DT8HR5O Strong Genetic Variation [1]
SLC6A18 DTGQ7FH Strong Genetic Variation [1]
------------------------------------------------------------------------------------
This Disease Is Related to 93 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ACOXL OTW680HT Strong Genetic Variation [7]
ACTR1B OTGBCKLO Strong Genetic Variation [2]
ACTRT3 OT2U08K8 Strong Genetic Variation [2]
ATF1 OT251CI0 Strong Genetic Variation [1]
BAALC OTUZSRVF Strong Genetic Variation [13]
BABAM1 OTCFPER6 Strong Genetic Variation [8]
BICC1 OTYRKIJ1 Strong Genetic Variation [4]
BMP5 OTC0Y6E0 Strong Genetic Variation [1]
BOC OTXBCY9W Strong Genetic Variation [1]
BTBD9 OTWQ6GA3 Strong Genetic Variation [14]
CABLES2 OTGD9A2A Strong Genetic Variation [6]
CBLN2 OT29SSBE Strong Genetic Variation [14]
CCND2 OTDULQF9 Strong Genetic Variation [6]
CFAP44 OT1273MD Strong Genetic Variation [14]
CHD1 OT9R9G0H Strong Genetic Variation [1]
CHRDL2 OTJU2I5H Strong Genetic Variation [1]
CLEC3A OTTOAEGT Strong Genetic Variation [12]
COL4A2 OTJK1LKN Strong Genetic Variation [1]
COLCA1 OT8BP6UD Strong Genetic Variation [6]
CRTC3 OTVIGVUW Strong Genetic Variation [2]
DCBLD1 OTA702JK Strong Genetic Variation [15]
DENND5B OTNDJJUR Strong Genetic Variation [9]
DIP2B OTP6KH82 Strong Genetic Variation [3]
DOCK3 OTF3YS2W Strong Genetic Variation [14]
DRG1 OTIFYMI3 Strong Genetic Variation [14]
ECT2L OTOSDMGV Strong Genetic Variation [12]
EFCAB2 OTXEFI4O Strong Genetic Variation [9]
EIF4ENIF1 OTZWDB2X Strong Genetic Variation [14]
ELOVL5 OT375W1Z Strong Genetic Variation [16]
ETV6 OTCZMG61 Strong Genetic Variation [17]
FAM193A OTT0W53G Strong Genetic Variation [14]
FEN1 OT6QGG7O Strong Genetic Variation [2]
FMN1 OT9CID5R Strong Genetic Variation [1]
FRY OT74IAG2 Strong Genetic Variation [8]
GNG12 OTOGF42G Strong Genetic Variation [14]
GPATCH1 OTQRDBY6 Strong Genetic Variation [18]
GPR143 OTWUA2AV Strong Genetic Variation [19]
HERC2 OTNQYKOB Strong Genetic Variation [14]
HHIP OT77RQYS Strong Genetic Variation [1]
HLA-F OT76CM19 Strong Genetic Variation [14]
HNF1B OTSYIC3T Strong Genetic Variation [8]
HSPA12A OTFOCDD6 Strong Genetic Variation [20]
KCNIP4 OTB1BS0X Strong Genetic Variation [14]
KLF5 OT1ABI9N Strong Genetic Variation [1]
KRT8 OTTM4X11 Strong Genetic Variation [8]
L1TD1 OTB2W20Y Strong Genetic Variation [9]
LAMA5 OTIIXE4M Strong Genetic Variation [1]
LAMC1 OTIG527N Strong Genetic Variation [6]
LIMA1 OTONPC9R Strong Genetic Variation [21]
LRIG1 OTY5HZN5 Strong Genetic Variation [6]
LSAMP OTYXVQX2 Strong Genetic Variation [12]
MACF1 OTVIHD77 Strong Genetic Variation [22]
MAMSTR OT4J6Z7G Strong Genetic Variation [2]
MTX1 OTLSDNZO Strong Genetic Variation [8]
MYNN OT61R1HP Strong Genetic Variation [23]
MYO16 OTMS3D8W Strong Genetic Variation [14]
MYRF OTKF6AEB Strong Genetic Variation [9]
MZF1 OTMVZCPW Strong Genetic Variation [1]
NEK10 OTN0JAYL Strong Genetic Variation [8]
NXN OT35N40G Strong Genetic Variation [1]
OR1J2 OTIQTQHU Strong Genetic Variation [14]
PCNX1 OTFP8XHC Strong Genetic Variation [22]
PLCH1 OT6Z1L2E Strong Genetic Variation [24]
PLEKHG6 OTZWA27A Strong Genetic Variation [1]
PNKD OT6G9UXN Strong Genetic Variation [6]
POLD3 OTEQEFQ2 Strong Genetic Variation [6]
POLE OTFM3MMU Strong Autosomal dominant [25]
POU5F1B OT0FKQ51 Strong Genetic Variation [6]
PPP1R21 OTWN6N7T Strong Genetic Variation [9]
PREX1 OTUTPVA9 Strong Genetic Variation [9]
RAD51B OTCJVRMY Strong Genetic Variation [8]
RALY OT78NNWY Strong Genetic Variation [8]
RETREG3 OTEUQ2MI Strong Genetic Variation [12]
RHPN2 OTTYWMF6 Strong Genetic Variation [6]
RIPOR3 OTHZ4RKK Strong Genetic Variation [1]
RNF4 OTCMXQRE Strong Genetic Variation [14]
RNGTT OT59E0KX Strong Genetic Variation [12]
RTEL1 OTI3PJCT Strong Genetic Variation [1]
SBF2 OTBB8NO8 Strong Genetic Variation [2]
SCAF8 OTSCFMK3 Strong Genetic Variation [12]
SHROOM2 OTZ2FJ7Q Strong Genetic Variation [2]
SPSB2 OT7ZVT8R Strong Genetic Variation [4]
SYMPK OTYAUDXV Strong Genetic Variation [18]
TANC1 OTF6TZ8E Strong Genetic Variation [1]
TBX3 OTM64N7K Strong Genetic Variation [26]
TET2 OTKKT03T Strong Genetic Variation [1]
TFEB OTJUJJQY Strong Genetic Variation [2]
TMBIM1 OTE47B57 Strong Genetic Variation [6]
TMEM258 OTXSDU14 Strong Genetic Variation [9]
TMTC1 OTZ7NW96 Strong Genetic Variation [12]
TNS3 OTPG2D8Z Strong Genetic Variation [2]
TOX2 OT7RZRVK Strong Genetic Variation [1]
TTC22 OTFNNLI1 Strong Genetic Variation [1]
------------------------------------------------------------------------------------
⏷ Show the Full List of 93 DOT(s)

References

1 Discovery of common and rare genetic risk variants for colorectal cancer.Nat Genet. 2019 Jan;51(1):76-87. doi: 10.1038/s41588-018-0286-6. Epub 2018 Dec 3.
2 Association analyses identify 31 new risk loci for colorectal cancer susceptibility.Nat Commun. 2019 May 14;10(1):2154. doi: 10.1038/s41467-019-09775-w.
3 A new GWAS and meta-analysis with 1000Genomes imputation identifies novel risk variants for colorectal cancer.Sci Rep. 2015 May 20;5:10442. doi: 10.1038/srep10442.
4 Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk.Gastroenterology. 2016 Jun;150(7):1633-1645. doi: 10.1053/j.gastro.2016.02.076. Epub 2016 Mar 8.
5 Genome wide association study to identify predictors for severe skin toxicity in colorectal cancer patients treated with cetuximab.PLoS One. 2018 Dec 17;13(12):e0208080. doi: 10.1371/journal.pone.0208080. eCollection 2018.
6 Novel Common Genetic Susceptibility Loci for Colorectal Cancer.J Natl Cancer Inst. 2019 Feb 1;111(2):146-157. doi: 10.1093/jnci/djy099.
7 Genome-wide diet-gene interaction analyses for risk of colorectal cancer.PLoS Genet. 2014 Apr 17;10(4):e1004228. doi: 10.1371/journal.pgen.1004228. eCollection 2014 Apr.
8 Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.Cancer Res. 2016 Sep 1;76(17):5103-14. doi: 10.1158/0008-5472.CAN-15-2980. Epub 2016 Apr 20.
9 Large-Scale Genome-Wide Association Study of East Asians Identifies Loci Associated With Risk for Colorectal Cancer.Gastroenterology. 2019 Apr;156(5):1455-1466. doi: 10.1053/j.gastro.2018.11.066. Epub 2018 Dec 6.
10 Associations of single nucleotide polymorphisms with mucinous colorectal cancer: genome-wide common variant and gene-based rare variant analyses.Biomark Res. 2018 Jun 13;6:17. doi: 10.1186/s40364-018-0133-z. eCollection 2018.
11 Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population.Gut. 2011 Jun;60(6):799-805. doi: 10.1136/gut.2010.215947. Epub 2011 Jan 17.
12 Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1.Sci Rep. 2015 Dec 1;5:17369. doi: 10.1038/srep17369.
13 Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies.PLoS One. 2018 Apr 26;13(4):e0196245. doi: 10.1371/journal.pone.0196245. eCollection 2018.
14 Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomas.Oncotarget. 2017 Oct 9;8(58):98623-98634. doi: 10.18632/oncotarget.21697. eCollection 2017 Nov 17.
15 Genome-wide association study of colorectal cancer identifies six new susceptibility loci.Nat Commun. 2015 Jul 7;6:7138. doi: 10.1038/ncomms8138.
16 Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis.Carcinogenesis. 2016 Jan;37(1):87-95. doi: 10.1093/carcin/bgv161. Epub 2015 Nov 19.
17 Common genetic variation in ETV6 is associated with colorectal cancer susceptibility.Nat Commun. 2016 May 5;7:11478. doi: 10.1038/ncomms11478.
18 Novel colon cancer susceptibility variants identified from a genome-wide association study in African Americans.Int J Cancer. 2017 Jun 15;140(12):2728-2733. doi: 10.1002/ijc.30687. Epub 2017 Mar 28.
19 Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk.Nat Genet. 2012 May 27;44(7):770-6. doi: 10.1038/ng.2293.
20 Genome-wide association analyses in East Asians identify new susceptibility loci for colorectal cancer.Nat Genet. 2013 Feb;45(2):191-6. doi: 10.1038/ng.2505. Epub 2012 Dec 23.
21 Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.Hum Mol Genet. 2014 Sep 1;23(17):4729-37. doi: 10.1093/hmg/ddu177. Epub 2014 Apr 15.
22 Genome-wide association study of colorectal cancer in Hispanics.Carcinogenesis. 2016 Jun;37(6):547-556. doi: 10.1093/carcin/bgw046. Epub 2016 Apr 18.
23 Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33.Nat Genet. 2010 Nov;42(11):973-7. doi: 10.1038/ng.670. Epub 2010 Oct 24.
24 GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12.Carcinogenesis. 2018 May 3;39(5):652-660. doi: 10.1093/carcin/bgy026.
25 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
26 Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis.Gastroenterology. 2013 Apr;144(4):799-807.e24. doi: 10.1053/j.gastro.2012.12.020. Epub 2012 Dec 22.