{{Rsnum
|rsid=6983267
|Chromosome=8
|position=127401060
|Orientation=plus
|GMAF=0.4366
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=CCAT2
|Gene_s=CCAT2,LOC101930033
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 21.2 | 54.9 | 23.9
| HCB | 15.3 | 48.2 | 36.5
| JPT | 10.6 | 38.9 | 50.4
| YRI | 96.6 | 3.4 | 0.0
| ASW | 68.4 | 26.3 | 5.3
| CHB | 15.3 | 48.2 | 36.5
| CHD | 20.4 | 46.3 | 33.3
| GIH | 30.0 | 45.0 | 25.0
| LWK | 95.5 | 4.5 | 0.0
| MEX | 38.6 | 47.4 | 14.0
| MKK | 78.8 | 21.2 | 0.0
| TSI | 17.6 | 50.0 | 32.4
| HapMapRevision=28
}}{{CPMC SNP
|link=http://cpmc1.coriell.org/about-the-cpmc-study/health-conditions-and-drug-response/colorectal-cancer/the-cpmc-study
}}
[[rs6983267]] is a SNP on chromosome [[8q24]], associated with increased risk for several {{PMID|19047180}} [[cancer]]s, particularly [[prostate cancer]]. In studies dividing the 8q24 region, this SNP falls in region 3. This SNP has also been reported to influence the cancer-risk-decreasing effect of [[aspirin]].

In a study of over 3,600 Caucasians with [[prostate cancer]], [[rs6983267]] is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the [[rs6983267]](G;G) and (G;T) risk genotypes yield an odds ratio for developing [[prostate cancer]] of 1.37 (CI: 1.18-1.59, p=3.4-10e-5) and may account for 22.2% of population attributable risk.{{doi|10.1056/NEJMoa075819}}

The increased risk of developing [[prostate cancer]] associated with [[rs6983267]] now appears to be independent of the risk associated with its close neighbor, [[rs1447295]]. The odds ratio for heterozygotes is estimated to be 1.26 (CI: 1.13 - 1.41), and for homozygotes, 1.58 (CI: 1.40 - 1.78), compared to the homozygote [[rs6983267(T;T)]] genotype. {{PMID|17401363}}

[http://www.pharmalive.com/News/index.cfm?articleid=428514&categoryid=40] The [[rs1447295]] location could be responsible for about seven percent of prostate cancer cases in white men of north European descent. Thus, taken together with [[rs6983267]], these two genetic changes could account for as much as one quarter of [[Prostate cancer|prostate cancer]] cases in white men. The increased risk conferred by these loci was observed for all age groups studied.

cancer related according to this [http://cancergenetics.wordpress.com/2007/08/07/association-with-prostate-and-colon-cancer-8q24/ blog]

We estimate that the population attributable risk of the new locus, marked by rs6983267, is higher than the locus marked by rs1447295 (21% vs. 9%) {{PMID|17826675}}

In a study of 1,563 patients of European ancestry, this SNP was designated as the representative of a [[prostate cancer]] risk region termed "locus 2", with an odds ratio of 1.70 (CI: 1.39-2.07) for carriers of a risk genotype. Two other regions of chromosome [[8q24]] were also studied.{{PMID|17925536}}

In follow-up studies looking at disease severity (and not just overall risk), this SNP is reported to account for the risk (from region 3) of advanced [[prostate cancer]]. A meta-analysis of 10+ studies comprising over 15,000 [[prostate cancer]] patients concluded that the odds ratio for [[rs6983267]](G) allele carriers is 1.25 (CI: 1.24-1.26).{{PMID|18231127|OA=1
}}

A study of 561 patients with [[colon cancer]] has found that [[rs6983267]](G;T) and (G;G) genotypes have an age-adjusted odds ratio of 1.39 (CI:1.03-1.88) and 1.68 (CI:1.21-2.33), respectively, for the development of that disease compared to (T;T) genotypes.{{PMID|18268117}}

{{PMID|17618284}}  [[rs6983267]] P = 1.27 x 10(-14) (allelic test) overall, with odds ratios (ORs) of 1.27 (95% confidence interval (c.i.): 1.16-1.39) and 1.47 (95% c.i.: 1.34-1.62) for heterozygotes and rare homozygotes, respectively with colorectal adenoma 

{{PMID|18056436}}  associated with risk of [[colorectal cancer]]: Inheriting the risk variant at both this SNP and [[rs4779584]] is estimated to increase the overall risk of developing [[colorectal cancer]] about 3 fold. The authors of this study are quoted as saying that "the lifetime risk [of bowel cancer] is about 5% in the UK so it's going up to 7% or so if you've got both bad copies of a variant." [http://www.nature.com/ng/journal/vaop/ncurrent/abs/ng.2007.41.html nature]

{{PMID|18362937|OA=1
}} [[rs6983267]] confirmed to increase risk for [[colorectal cancer]] in a study of 4,000 UK cases.

{{PMID|18268117}} [[rs6983267]] confirmed to increase risk for [[colorectal cancer]] in a study of 561 patients.

{{PMID|18535017|OA=1
}} [[rs6983267]] confirmed to increase risk for colorectal adenomas in a pooled analysis of 2,500+ cases.

{{PMID|18990762|OA=1
}} [[rs6983267]] associated with smoking-related upper aerodigestive tract cancers including oropharynx and larynx, also [[lung cancer]] and [[liver cancer]], but it was inversely associated with [[bladder cancer]] (OR 0.335, CI: 0.14-0.83).

{{PMID|18726982}} In a study of Japanese men, the [[rs6983267]](G) allele did not show significant association with susceptibility to [[prostate cancer]] (PC vs. non-PC: p = 0.967, OR 1.00; CI: 0.83-1.21). However, it was associated with disease in non-aggressive PC (non-aggressive PC vs. normal controls: p = 0.0068, OR 1.43; CI: 1.10-1.85).

'''Chemoprevention:''' {{PMID|24317174}} This study of 840+ colorectal patients concluded that a lower risk of [[colorectal cancer]] was associated with the [[rs6983267]](T) allele (additive adjusted OR 0.83, CI = 0.74 to 0.94; p trend = .002) for those taking [[aspirin]]. Compared with individuals with the GG genotype, taking [[aspirin]] led to adjusted odds ratios of colorectal cancer risk were 0.85 (CI = 0.69 to 1.04) for those with the GT genotype and 0.69 (95% CI = 0.54 to 0.87) for those with the TT genotype. No reduction in [[colorectal cancer]] incidence was seen for [[rs6983267]](G;G) individuals taking aspirin compared to GG individuals not taking aspirin.

[http://cancergenetics.wordpress.com/2008/02/15/prostate-cancer-oldnew-snps-and-decodeprca/ cancer-genetics] these snps influence genetic risk for [[prostate cancer]]
*the [[haplotype]] [[rs6983267]] [[rs1016343]] [[rs4242384]] 
*[[rs7501939]] 
*[[rs1859962]]
*[[rs2660753]]
*[[rs9364554]]
*[[rs6465657]]
*[[rs10993994]]
*[[rs7931342]]
*[[rs2735839]]
*[[rs5945619]]
*[[rs10993994]]

{{PMID|18839428}} [[colorectal cancer]] [[rs10505477]] and [[rs6983267]] yielded allelic p-values of 1.42 x 10(-7) and 2.57 x 10(-7), respectively with OR=1.50 (95% CI: 1.29-1.75). Risk region was delineated by SNPs rs10505477 and [[rs7014346]] and comprised 17 kb

[http://www.gnxp.com/blog/2009/06/from-genome-wide-association-studies-to.php blog] discussion of the molecular biology

{{GWAS Summary
|SNP=rs6983267
|PubMedID=17401363
|Condition=Prostate cancer
|Gene=Intergenic
|Risk Allele=G
|pValue=9.00E-013
|OR=1.26
|95CI=1.13-1.41
}}

{{PMID Auto GWAS
|PMID=18372905
|Trait=Colorectal cancer
|Title=A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
|RiskAllele=
|Pval=7.0000000000000004E-11
|OR=1.24
|ORtxt=[1.17-1.33]
}}
{{PMID Auto GWAS
|PMID=18264097
|Trait=Prostate cancer
|Title=Multiple newly identified loci associated with prostate cancer susceptibility
|RiskAllele=G
|Pval=9E-13
|OR=1.42
|ORtxt=[NR]
}}
{{PMID Auto GWAS
|PMID=18264096
|Trait=Prostate cancer
|Title=Multiple loci identified in a genome-wide association study of prostate cancer
|RiskAllele=G
|Pval=7.0000000000000001E-12
|OR=1.28
|ORtxt=[1.15-1.45]
}}
{{PMID Auto
|PMID=19520795
|Title=Novel Single Nucleotide Polymorphism Associations with Colorectal Cancer on Chromosome 8q24 in African and European Americans
|OA=1
}}
{{PMID Auto
|PMID=19528667
|Title=Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic Men
|OA=1
}}

{{PMID Auto
|PMID=19562729
|Title=Common variants in 8q24 are associated with risk for prostate cancer and tumor aggressiveness in men of European ancestry
|OA=1
}}
{{PMID Auto
|PMID=19561607
|Title=The 8q24 cancer risk variant rs6983267 shows long-range interaction with MYC in colorectal cancer
|OA=1
}}
{{PMID Auto
|PMID=19561604
|Title=The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling
}}

{{omim
|desc=PROSTATE CANCER, HEREDITARY, 10; HPC10
|id=611100
|rsnum=6983267
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 2; CRCS2
|id=611469
|rsnum=6983267
}}

{{omim
|desc=COLORECTAL CANCER, SUSCEPTIBILITY TO, 6; CRCS6
|id=612231
|rsnum=6983267
}}
{{PMID Auto
|PMID=19602258
|Title=Significance of common variants on human chromosome 8q24 in relation to the risk of prostate cancer in native Japanese men
|OA=1
}}
{{PMID Auto
|PMID=19786869
|Title=Recent insights into the pathogenesis of colorectal cancer
|OA=1
}}
{{PMID Auto
|PMID=19843678
|Title=Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort
}}
{{PMID Auto
|PMID=19857256
|Title=Association between an 8q24 locus and the risk of colorectal cancer in Japanese
|OA=1
}}
{{PMID Auto
|PMID=19895682
|Title=No effect of cancer-associated SNP rs6983267 in the 8q24 region on co-expression of MYC and TCF7L2 in normal colon tissue
|OA=1
}}

{{PharmGKB
|RSID=rs6983267
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17401363; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Genome-wide association study of prostate cancer identifies a second risk locus at 8q24 (Initial Sample Size: 1,172 cases, 1,157 controls; Replication Sample Size: 3,124 cases, 3,142 controls; Risk Allele: rs6983267-G).
|Drugs=
|Drug Classes=
|Diseases=Prostatic Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356602
}}

{{PMID Auto
|PMID=20065031
|Title=Upregulation of c-MYC in Cis Through a Large Chromatin Loop Linked to a Cancer Risk-Associated SNP in Colorectal Cancer Cells
|OA=1
}}

{{PMID Auto
|PMID=20530476
|Title=Risk of Genome-Wide Association Study-Identified Genetic Variants for Colorectal Cancer in a Chinese Population
}}
{{PMID Auto
|PMID=20627891
|Title=An 8q24 gene desert variant associated with prostate cancer risk confers differential in vivo activity to a MYC enhancer
|OA=1
}}
{{PMID Auto
|PMID=20638935
|Title=Susceptibility Genetic Variants Associated With Colorectal Cancer Risk Correlate With Cancer Phenotype
}}
{{PMID Auto
|PMID=20659471
|Title=Genetic Heterogeneity in Colorectal Cancer Associations in Americans of African vs. European Descent
|OA=1
}}

{{PharmGKB
|RSID=rs6983267
|Name_s=
|Gene_s=-
|Feature=
|Evidence=PubMed ID:17618284; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21 (Initial Sample Size: 930 cases, 960 controls; Replication Sample Size: 7,334 cases, 5,246 controls; Risk Allele: rs6983267-G).
|Drugs=
|Drug Classes=
|Diseases=Colorectal Neoplasms
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356670
}}
{{PMID Auto
|PMID=21051319
|Title=Risk of Urinary Bladder Cancer is Associated with 8q24 Variant rs9642880[T]: Results from the Los Angeles-Shanghai Case-Control Study
|OA=1
}}
{{PMID Auto
|PMID=21086507
|Title=GWAS SNP Replication among African American and European American men in the North Carolina-Louisiana prostate cancer project (PCaP)
}}
{{PMID Auto
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|Title=Colorectal cancer susceptibility loci on chromosome 8q23.3 and 11q23.1 as modifiers for disease expression in lynch syndrome
}}
{{PMID Auto
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|Title=Colorectal Cancer Susceptibility Loci in a Population-Based Study: Associations with Morphological Parameters
|OA=1
}}
{{PMID Auto
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|Title=Characterization of the association between 8q24 and colon cancer: gene-environment exploration and meta-analysis
|OA=1
}}
{{PMID Auto
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|Title=Chromosome 8q24 variants are associated with prostate cancer risk in a high risk population of African ancestry
}}
{{PMID Auto
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|Title=Common variant in 6q26-q27 is associated with distal colon cancer in an Asian population
|OA=1
}}

{{PMID Auto
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|Title=Effect of rs6983267 polymorphism in the 8q24 region and rs4444903 polymorphism in EGF gene on the risk of sporadic colorectal cancer in Iranian population
}}

{{PMID Auto
|PMID=21722176
|Title=Association of 8q24.21 locus with the risk of colorectal cancer: A systematic review and meta-analysis
}}

{{PMID Auto GWAS
|PMID=21743057
|Trait=None
|Title=Genome-wide association study identifies new prostate cancer susceptibility loci.
|RiskAllele=G
|Pval=0.000009
|OR=1.2000
|ORtxt=[1.11-1.32]
|OA=1
}}

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|Title=Impact of genotyping on outcome of prostatic biopsies: a multicenter prospective study
|OA=1
}}

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|Title=Networks of intergenic long-range enhancers and snpRNAs drive castration-resistant phenotype of prostate cancer and contribute to pathogenesis of multiple common human disorders
|OA=1
}}

{{PMID Auto
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|Title=The multi-cancer marker, rs6983267, located at region 3 of chromosome 8q24, is associated with prostate cancer in Greek patients but does not contribute to the aggressiveness of the disease
}}

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|Title=Meta-Analysis of Epidermal Growth Factor Polymorphisms and Cancer Risk: Involving 9,779 Cases and 15,932 Controls
}}

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}}

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}}

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}}

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}}

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}}

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}}

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|Title=GWAS-identified colorectal cancer susceptibility loci associated with clinical outcomes
}}

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}}

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}}

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}}

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}}

{{PMID Auto
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|Title=A common genetic risk factor for colorectal and prostate cancer.
|OA=1
}}

{{PMID Auto
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|Title=Lack of a relationship between the common 8q24 variant rs6983267 and risk of chronic lymphocytic leukemia.
}}

{{PMID Auto
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|Title=A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
|OA=1
}}

{{PMID Auto
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|Title=Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus.
|OA=1
}}

{{PMID Auto
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}}

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}}

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}}

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}}

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}}

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}}

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}}

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{{PMID Auto
|PMID=21945030
|Title=Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?
}}

{{PMID Auto
|PMID=22045029
|Title=Relationship between 16 susceptibility loci and colorectal cancer phenotype in 3146 patients.
}}

{{PMID Auto
|PMID=22235025
|Title=Susceptibility genetic variants associated with early-onset colorectal cancer.
}}

{{PMID Auto
|PMID=22382457
|Title=Racial disparities in the association between variants on 8q24 and prostate cancer: a systematic review and meta-analysis.
|OA=1
}}

{{PMID Auto
|PMID=22561070
|Title=8q24 and 17q Prostate cancer susceptibility loci in a multiethnic Asian cohort().
}}

{{PMID Auto
|PMID=22976378
|Title=The rs6983267 SNP Is Associated with MYC Transcription Efficiency, Which Promotes Progression and Worsens Prognosis of Colorectal Cancer
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6983267
|overall_frequency_n=52
|overall_frequency_d=128
|overall_frequency=0.40625
|n_genomes=30
|n_genomes_annotated=0
|n_haplomes=42
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23118011
|Title=Mice Lacking a Myc Enhancer That Includes Human SNP rs6983267 Are Resistant to Intestinal Tumors
}}

{{PMID Auto
|PMID=22677538
|Title=The prostate cancer risk locus at 10q11 is associated with DNA repair capacity
}}

{{PMID Auto
|PMID=23359760
|Title=Single-nucleotide polymorphism associations for colorectal cancer in southern chinese population
|OA=1
}}

{{PMID Auto GWAS
  |PMID=23266556
  |Trait=Colorectal cancer
  |Title=Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-wide Meta-analysis.
  |RiskAllele=G
  |Pval=1E-11
  |OR=1.13
  |ORtxt=[1.09-1.18]
  |OA=1
}}

{{PMID Auto
|PMID=23532531
|Title=Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population
}}

{{PMID Auto
|PMID=23796952
|Title=CCAT2, a novel non-coding RNA mapping to 8q24, underlies metastatic progression and chromosomal instability in colon cancer
|OA=1
}}

{{PMID Auto
|PMID=24115145
|Title=No evidence that associations of incident, sporadic colorectal adenoma with its major modifiable risk factors differ by chromosome 8q24 region rs6983267 genotype
}}

{{PMID Auto
|PMID=24224612
|Title=Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a hispanic population
}}

{{PMID Auto
|PMID=24317174
|Title=Aspirin Use, 8q24 Single Nucleotide Polymorphism rs6983267, and Colorectal Cancer According to CTNNB1 Alterations
}}

{{PMID Auto
|PMID=24345439
|Title=Prostate cancer risk alleles are associated with prostate cancer tumor volume and prostate size
}}

{{PMID Auto
|PMID=24390711
|Title=Allelic Imbalance at an 8q24 Oncogenic SNP is Involved in Activating MYC in Human Colorectal Cancer
}}

{{PMID Auto
|PMID=22821767
|Title=Urine TMPRSS2:ERG fusion transcript integrated with PCA3 score, genotyping, and biological features are correlated to the results of prostatic biopsies in men at risk of prostate cancer.
}}

{{PMID Auto
|PMID=22848662
|Title=Polymorphisms on 8q24 are associated with lung cancer risk and survival in Han Chinese.
|OA=1
}}

{{PMID Auto
|PMID=22848671
|Title=Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
|OA=1
}}

{{PMID Auto
|PMID=22999960
|Title=Much of the genetic risk of colorectal cancer is likely to be mediated through susceptibility to adenomas.
|OA=1
}}

{{PMID Auto
|PMID=23133607
|Title=Associations between gene expression variations and ovarian cancer risk alleles identified from genome wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=23434150
|Title=Are the common genetic variants associated with colorectal cancer risk for DNA mismatch repair gene mutation carriers?
|OA=1
}}

{{PMID Auto
|PMID=23570689
|Title=Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.
|OA=1
}}

{{PMID Auto
|PMID=23628314
|Title=A replication study examining association of rs6983267, rs10090154, and rs1447295 common single nucleotide polymorphisms in 8q24 region with prostate cancer in Siberians.
}}

{{PMID Auto
|PMID=23723249
|Title=GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications.
|OA=1
}}

{{PMID Auto
|PMID=23776012
|Title=Genetic variants at chromosome 8q24, colorectal epithelial cell proliferation, and risk for incident, sporadic colorectal adenomas.
}}

{{PMID Auto
|PMID=24801760
|Title=Common colorectal cancer risk alleles contribute to the multiple colorectal adenoma phenotype, but do not influence colonic polyposis in FAP
}}

{{PMID Auto
|PMID=24854447
|Title=Association analysis of colorectal cancer susceptibility variants with gastric cancer in a Chinese Han population
}}

{{PMID Auto
|PMID=24875374
|Title=Variation in the Association Between Colorectal Cancer Susceptibility Loci and Colorectal Polyps by Polyp Type
}}

{{PMID Auto
|PMID=24978480
|Title=A Colorectal Cancer Susceptibility New Variant at 4q26 in the Spanish Population Identified by Genome-Wide Association Analysis
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}