{{Rsnum
|rsid=1447295
|Gene=LOC727677
|Chromosome=8
|position=127472793
|Orientation=plus
|GMAF=0.1818
|Gene_s=FUNDC2P2
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 0.9 | 12.4 | 86.7
| HCB | 1.5 | 24.1 | 74.5
| JPT | 4.4 | 28.3 | 67.3
| YRI | 18.4 | 46.9 | 34.7
| ASW | 8.8 | 49.1 | 42.1
| CHB | 1.5 | 24.1 | 74.5
| CHD | 2.8 | 19.3 | 78.0
| GIH | 1.0 | 20.8 | 78.2
| LWK | 15.6 | 38.5 | 45.9
| MEX | 0.0 | 15.5 | 84.5
| MKK | 3.9 | 36.8 | 59.4
| TSI | 1.0 | 12.7 | 86.3
| HapMapRevision=28
}}[[rs1447295]] is a SNP on chromosome 8q24, associated with increased risk for [[prostate cancer]] in several studies.

In a study of over 3,600 Caucasians with [[prostate cancer]], [[rs1447295]] is one of five SNPs used (with family history as a sixth factor) to cumulatively predict overall risk. On their own, the [[rs1447295]](A;A) and (A;C) risk genotypes yield an odds ratio for developing [[prostate cancer]] of 1.22 (CI: 1.06-1.40, p=5.3x10-3) and may account for 5.4% of population attributable risk.{{doi|10.1056/NEJMoa075819}}

[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 was observed for all age groups studied.

Another study, in this case of 1,563 patients of European ancestry, found 4 SNPs (including [[rs1447295]]) in this region of chromosome 8q24 (termed "locus 1") to be strongly linked and associated with [[prostate cancer]]. The other 3 SNPs are [[rs4242382]], [[rs7017300]], and [[rs7837688]]. The odds ratio for having a risk genotype at locus 1 is 1.70 (CI: 1.39-2.07), and increases if risk genotypes are present at "locus 2" ([[rs6983267]]) or "locus 3" ([[rs10086908]]).{{PMID|17925536}}

A meta-analysis of 10+ studies comprising over 15,000 [[prostate cancer]] patients concluded that the odds ratio for [[rs1447295]](A) allele carriers is 1.42 (CI: 1.40-1.44).{{PMID|18231127|OA=1
}}

The allele of  higher risk for [[prostate cancer]] is [[rs1447295]](A).

{{PMID|18726982}} In a study of Japanese men, the [[rs1447295]](A) allele was associated with susceptibility to [[prostate cancer]] (PC vs. non-PC: p = 0.041, OR 1.28, CI: 1.01-1.61), and was more significantly associated with disease in aggressive PC (aggressive PC vs. normal controls, p = 0.013, OR 1.43, CI: 1.08-1.90).

{{PMID|24270849|OA=1
}} [[rs1447295]] was found to be associated with [[prostate cancer]] based on a study by the eMERGE network in which electronic medical records were searched to find clinical associations associated with selected SNPs.

[http://cancergenetics.wordpress.com/2007/08/07/association-with-prostate-and-colon-cancer-8q24/ blogged]

{{ neighbor
| rsid = 10109700
| distance = 926
}}

{{PMID Auto GWAS
|PMID=17401366
|Trait=Prostate cancer
|Title=Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
|RiskAllele=A
|Pval=5.9999999999999997E-18
|OR=1.60
|ORtxt=[1.43-1.77]
}}
{{PMID Auto GWAS
|PMID=17401363
|Trait=Prostate cancer
|Title=Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
|RiskAllele=A
|Pval=2E-14
|OR=1.43
|ORtxt=[1.29-1.59]
}}

{{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
}}

{{omim
|desc=PROSTATE CANCER, HEREDITARY, 10; HPC10
|id=611100
|rsnum=1447295
}}
{{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 GWAS
|PMID=19767754
|Trait=Prostate cancer
|Title=Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility
|RiskAllele=A
|Pval=2E-19
|OR=1.58
|ORtxt=[1.43-1.74]
|OA=1
}}
{{PMID Auto
|PMID=19900942
|Title=Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy
}}
{{PMID Auto
|PMID=19908238
|Title=Common variants at 8q24 are associated with prostate cancer risk in Taiwanese men
}}

{{PMID Auto
|PMID=19952762
|Title=The rs1447295 and DG8S737 markers on chromosome 8q24 and cancer risk in the Polish population
}}

{{PMID Auto
|PMID=20639049
|Title=Association of SNP rs1447295 and Microsatellite Marker DG8S737 With Familial Prostate Cancer and High Grade Disease
}}
{{PMID Auto
|PMID=20700145
|Title=Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant
|OA=1
}}
{{PMID Auto
|PMID=21102338
|Title=Possible association between a genetic polymorphism at 8q24 and risk of upper gastrointestinal cancer
|OA=1
}}
{{PMID Auto
|PMID=21229559
|Title=Chromosome 8q24 variants are associated with prostate cancer risk in a high risk population of African ancestry
}}

{{PMID Auto
|PMID=21756274
|Title=Systematic confirmation study of reported prostate cancer risk-associated single nucleotide polymorphisms in Chinese men
|OA=1
}}

{{PMID Auto
|PMID=21308149
|Title=Impact of genotyping on outcome of prostatic biopsies: a multicenter prospective study
|OA=1
}}

{{PMID Auto
|PMID=22067658
|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
|PMID=22275265
|Title=Common genetic variants in the 8q24 region and risk of papillary thyroid cancer
|OA=1
}}

{{PMID Auto
|PMID=22583965
|Title=Association of common variations of 8q24 with the risk of prostate cancer in Koreans and a review of the Asian population
}}

{{PMID Auto
|PMID=17372260
|Title=The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study.
}}

{{PMID Auto
|PMID=17409399
|Title=Two common chromosome 8q24 variants are associated with increased risk for prostate cancer.
}}

{{PMID Auto
|PMID=17409400
|Title=A common 8q24 variant in prostate and breast cancer from a large nested case-control study.
}}

{{PMID Auto
|PMID=17416775
|Title=Confirmation of a positive association between prostate cancer risk and a locus at chromosome 8q24.
}}

{{PMID Auto
|PMID=17903305
|Title=A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=17978284
|Title=Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus.
|OA=1
}}

{{PMID Auto
|PMID=18190704
|Title=Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=18213635
|Title=Chromosome 8q24 risk variants in hereditary and non-hereditary prostate cancer patients.
}}

{{PMID Auto
|PMID=18248681
|Title=Prevalence of common disease-associated variants in Asian Indians.
|OA=1
}}

{{PMID Auto
|PMID=18274536
|Title=Genome-wide association studies: progress and potential for drug discovery and development.
|OA=1
}}

{{PMID Auto
|PMID=18360876
|Title=Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.
|OA=1
}}

{{PMID Auto
|PMID=18423739
|Title=Tumor characteristics of carriers and noncarriers of the deCODE 8q24 prostate cancer susceptibility alleles.
}}

{{PMID Auto
|PMID=18491292
|Title=Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations.
|OA=1
}}

{{PMID Auto
|PMID=18535017
|Title=Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk.
|OA=1
}}

{{PMID Auto
|PMID=18577746
|Title=Multiple loci with different cancer specificities within the 8q24 gene desert.
|OA=1
}}

{{PMID Auto
|PMID=18625567
|Title=Association of chromosomal locus 8q24 and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy.
}}

{{PMID Auto
|PMID=18670647
|Title=Homozygous deletions and recurrent amplifications implicate new genes involved in prostate cancer.
|OA=1
}}

{{PMID Auto
|PMID=18682823
|Title=Canadian Urological Association, 63rd Annual Meeting, Edmonton, AB, June 22-25, 2008.
|OA=1
}}

{{PMID Auto
|PMID=18704501
|Title=Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
|OA=1
}}

{{PMID Auto
|PMID=18765558
|Title=Effect of genetic variability within 8q24 on aggressiveness patterns at diagnosis and familial status of prostate cancer.
}}

{{PMID Auto
|PMID=18768484
|Title=Family-based samples can play an important role in genetic association studies.
|OA=1
}}

{{PMID Auto
|PMID=18768513
|Title=Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18794092
|Title=Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.
|OA=1
}}

{{PMID Auto
|PMID=18990762
|Title=Associations between variants of the 8q24 chromosome and nine smoking-related cancer sites.
|OA=1
}}

{{PMID Auto
|PMID=19058137
|Title=Clinical utility of five genetic variants for predicting prostate cancer risk and mortality.
|OA=1
}}

{{PMID Auto
|PMID=19104501
|Title=Prostate cancer genomics: towards a new understanding.
|OA=1
}}

{{PMID Auto
|PMID=19155440
|Title=Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.
|OA=1
}}

{{PMID Auto
|PMID=19366828
|Title=Evaluation of 8q24 and 17q risk loci and prostate cancer mortality.
|OA=1
}}

{{PMID Auto
|PMID=19366831
|Title=Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.
|OA=1
}}

{{PMID Auto
|PMID=19428064
|Title=The rs1447295 at 8q24 is a risk variant for prostate cancer in Taiwanese men.
}}

{{PMID Auto
|PMID=19434657
|Title=Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.
|OA=1
}}

{{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=19549807
|Title=Prostate cancer risk associated loci in African Americans.
|OA=1
}}

{{PMID Auto
|PMID=19549893
|Title=Evaluation of the 8q24 prostate cancer risk locus and MYC expression.
|OA=1
}}

{{PMID Auto
|PMID=19567509
|Title=Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
|OA=1
}}

{{PMID Auto
|PMID=19727433
|Title=Cancer genetic association studies in the genome-wide age.
|OA=1
}}

{{PMID Auto
|PMID=20026053
|Title=WITHDRAWN: Relationships between 8q24 and 17q risk loci and sporadic or latent prostate cancer and the impacts of these loci on the clinicopathologic characteristics of prostate cancer.
}}

{{PMID Auto
|PMID=20039378
|Title=Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
|OA=1
}}

{{PMID Auto
|PMID=20065031
|Title=Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells.
|OA=1
}}

{{PMID Auto
|PMID=20133699
|Title=Long-range enhancers on 8q24 regulate c-Myc.
|OA=1
}}

{{PMID Auto
|PMID=20450899
|Title=Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.
}}

{{PMID Auto
|PMID=20584312
|Title=8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=20690139
|Title=Meta-analysis of genome-wide and replication association studies on prostate cancer.
}}

{{PMID Auto
|PMID=21390317
|Title=Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
|OA=1
}}

{{PMID Auto
|PMID=21455501
|Title=Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature.
|OA=1
}}

{{PMID Auto
|PMID=21476894
|Title=Common variants of the thyroglobulin gene are associated with differentiated thyroid cancer risk.
}}

{{PMID Auto
|PMID=21538423
|Title=Early onset prostate cancer has a significant genetic component.
|OA=1
}}

{{PMID Auto
|PMID=21557270
|Title=Chromosome 8q24 variants are associated with prostate cancer risk in a high risk population of African ancestry.
}}

{{PMID Auto
|PMID=22077888
|Title=Association of prostate cancer risk alleles with unfavourable pathological characteristics in potential candidates for active surveillance.
}}

{{PMID Auto
|PMID=22099997
|Title=Risk loci on chromosome 8q24 are associated with prostate cancer in northern Chinese men.
}}

{{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
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1447295
|overall_frequency_n=104
|overall_frequency_d=128
|overall_frequency=0.8125
|n_genomes=52
|n_genomes_annotated=0
|n_haplomes=88
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23405784
|Title=[Susceptibility to prostate cancer in Han Chinese: single nucleotide polymorphism analysis of 1 667 cases]
}}

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

{{PMID Auto
|PMID=24037955
|Title=The presence of prostate cancer at biopsy is predicted by a number of genetic variants
}}

{{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=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=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=25252079
|Title=8q24 risk alleles and prostate cancer in African-Barbadian men
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}