rs1447295
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 1.7 | 1.7x increased risk of prostate cancer |
| (A;C) | 1.4 | 1.4x increased risk of prostate cancer |
| (C;C) | 0 | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 127472793 |
| Gene | CASC8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1447295 |
| dbSNP (classic) | rs1447295 |
| ClinGen | rs1447295 |
| ebi | rs1447295 |
| HLI | rs1447295 |
| Exac | rs1447295 |
| Gnomad | rs1447295 |
| Varsome | rs1447295 |
| LitVar | rs1447295 |
| Map | rs1447295 |
| PheGenI | rs1447295 |
| Biobank | rs1447295 |
| 1000 genomes | rs1447295 |
| hgdp | rs1447295 |
| ensembl | rs1447295 |
| geneview | rs1447295 |
| scholar | rs1447295 |
| rs1447295 | |
| pharmgkb | rs1447295 |
| gwascentral | rs1447295 |
| openSNP | rs1447295 |
| 23andMe | rs1447295 |
| SNPshot | rs1447295 |
| SNPdbe | rs1447295 |
| MSV3d | rs1447295 |
| GWAS Ctlg | rs1447295 |
| GMAF | 0.1818 |
| Max Magnitude | 1.7 |
| ? | (A;A) (A;C) (C;C) | 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.10.1056/NEJMoa075819
[1] 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 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
]
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] 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.
| GWAS snp | |
|---|---|
| PMID | [PMID 17401366] |
| Trait | Prostate cancer |
| Title | Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24 |
| Risk Allele | A |
| P-val | 5.9999999999999997E-18 |
| Odds Ratio | 1.60 [1.43-1.77] |
| GWAS snp | |
|---|---|
| PMID | [PMID 17401363] |
| Trait | Prostate cancer |
| Title | Genome-wide association study of prostate cancer identifies a second risk locus at 8q24 |
| Risk Allele | A |
| P-val | 2E-14 |
| Odds Ratio | 1.43 [1.29-1.59] |
[PMID 19562729] Common variants in 8q24 are associated with risk for prostate cancer and tumor aggressiveness in men of European ancestry
[PMID 19602258] Significance of common variants on human chromosome 8q24 in relation to the risk of prostate cancer in native Japanese men
| GWAS snp | |
|---|---|
| PMID | [PMID 19767754]
|
| Trait | Prostate cancer |
| Title | Genome-wide association and replication studies identify four variants associated with prostate cancer susceptibility |
| Risk Allele | A |
| P-val | 2E-19 |
| Odds Ratio | 1.58 [1.43-1.74] |
[PMID 19900942] Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy
[PMID 19908238] Common variants at 8q24 are associated with prostate cancer risk in Taiwanese men
[PMID 19952762] The rs1447295 and DG8S737 markers on chromosome 8q24 and cancer risk in the Polish population
[PMID 20639049] Association of SNP rs1447295 and Microsatellite Marker DG8S737 With Familial Prostate Cancer and High Grade Disease
[PMID 20700145] Genetic marker polymorphisms on chromosome 8q24 and prostate cancer in the Dutch population: DG8S737 may not be the causative variant
[PMID 21102338] Possible association between a genetic polymorphism at 8q24 and risk of upper gastrointestinal cancer
[PMID 21229559] Chromosome 8q24 variants are associated with prostate cancer risk in a high risk population of African ancestry
[PMID 21756274] Systematic confirmation study of reported prostate cancer risk-associated single nucleotide polymorphisms in Chinese men
[PMID 21308149] Impact of genotyping on outcome of prostatic biopsies: a multicenter prospective study
[PMID 22067658] Networks of intergenic long-range enhancers and snpRNAs drive castration-resistant phenotype of prostate cancer and contribute to pathogenesis of multiple common human disorders
[PMID 22275265] Common genetic variants in the 8q24 region and risk of papillary thyroid cancer
[PMID 22583965] Association of common variations of 8q24 with the risk of prostate cancer in Koreans and a review of the Asian population
[PMID 17372260] The common variant rs1447295 on chromosome 8q24 and prostate cancer risk: results from an Australian population-based case-control study.
[PMID 17409399] Two common chromosome 8q24 variants are associated with increased risk for prostate cancer.
[PMID 17409400] A common 8q24 variant in prostate and breast cancer from a large nested case-control study.
[PMID 17416775] Confirmation of a positive association between prostate cancer risk and a locus at chromosome 8q24.
[PMID 17903305] A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study.
[PMID 17978284] Confirmation study of prostate cancer risk variants at 8q24 in African Americans identifies a novel risk locus.
[PMID 18190704] Genetic and genomic analysis modeling of germline c-MYC overexpression and cancer susceptibility.
[PMID 18213635] Chromosome 8q24 risk variants in hereditary and non-hereditary prostate cancer patients.
[PMID 18248681] Prevalence of common disease-associated variants in Asian Indians.
[PMID 18274536] Genome-wide association studies: progress and potential for drug discovery and development.
[PMID 18360876] Chromosome 8q24 markers: risk of early-onset and familial prostate cancer.
[PMID 18423739] Tumor characteristics of carriers and noncarriers of the deCODE 8q24 prostate cancer susceptibility alleles.
[PMID 18491292] Cumulative effect of five genetic variants on prostate cancer risk in multiple study populations.
[PMID 18535017] Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk.
[PMID 18577746] Multiple loci with different cancer specificities within the 8q24 gene desert.
[PMID 18625567] Association of chromosomal locus 8q24 and risk of prostate cancer: a hospital-based study of German patients treated with brachytherapy.
[PMID 18670647] Homozygous deletions and recurrent amplifications implicate new genes involved in prostate cancer.
[PMID 18682823] Canadian Urological Association, 63rd Annual Meeting, Edmonton, AB, June 22-25, 2008.
[PMID 18704501] Comprehensive resequence analysis of a 136 kb region of human chromosome 8q24 associated with prostate and colon cancers.
[PMID 18765558] Effect of genetic variability within 8q24 on aggressiveness patterns at diagnosis and familial status of prostate cancer.
[PMID 18768484] Family-based samples can play an important role in genetic association studies.
[PMID 18768513] Common 8q24 sequence variations are associated with Asian Indian advanced prostate cancer risk.
[PMID 18794092] Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.
[PMID 18990762] Associations between variants of the 8q24 chromosome and nine smoking-related cancer sites.
[PMID 19058137] Clinical utility of five genetic variants for predicting prostate cancer risk and mortality.
[PMID 19104501] Prostate cancer genomics: towards a new understanding.
[PMID 19155440] Meta association of colorectal cancer confirms risk alleles at 8q24 and 18q21.
[PMID 19366828] Evaluation of 8q24 and 17q risk loci and prostate cancer mortality.
[PMID 19366831] Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.
[PMID 19428064] The rs1447295 at 8q24 is a risk variant for prostate cancer in Taiwanese men.
[PMID 19434657] Individual and cumulative effect of prostate cancer risk-associated variants on clinicopathologic variables in 5,895 prostate cancer patients.
[PMID 19520795] Novel single nucleotide polymorphism associations with colorectal cancer on chromosome 8q24 in African and European Americans.
[PMID 19528667] Association of chromosome 8q variants with prostate cancer risk in Caucasian and Hispanic men.
[PMID 19549807] Prostate cancer risk associated loci in African Americans.
[PMID 19549893] Evaluation of the 8q24 prostate cancer risk locus and MYC expression.
[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.
[PMID 19727433] Cancer genetic association studies in the genome-wide age.
[PMID 20026053] 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 20039378] Estimation of genotype relative risks from pedigree data by retrospective likelihoods.
[PMID 20065031] Upregulation of c-MYC in cis through a large chromatin loop linked to a cancer risk-associated single-nucleotide polymorphism in colorectal cancer cells.
[PMID 20133699] Long-range enhancers on 8q24 regulate c-Myc.
[PMID 20450899] Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.
[PMID 20584312] 8q24 sequence variants in relation to prostate cancer risk among men of African descent: a case-control study.
[PMID 20690139] Meta-analysis of genome-wide and replication association studies on prostate cancer.
[PMID 21390317] Characterizing associations and SNP-environment interactions for GWAS-identified prostate cancer risk markers--results from BPC3.
[PMID 21455501] Genetic variants on chromosome 8q24 and colorectal neoplasia risk: a case-control study in China and a meta-analysis of the published literature.
[PMID 21476894] Common variants of the thyroglobulin gene are associated with differentiated thyroid cancer risk.
[PMID 21538423] Early onset prostate cancer has a significant genetic component.
[PMID 21557270] Chromosome 8q24 variants are associated with prostate cancer risk in a high risk population of African ancestry.
[PMID 22077888] Association of prostate cancer risk alleles with unfavourable pathological characteristics in potential candidates for active surveillance.
[PMID 22099997] Risk loci on chromosome 8q24 are associated with prostate cancer in northern Chinese men.
[PMID 22382457] Racial disparities in the association between variants on 8q24 and prostate cancer: a systematic review and meta-analysis.
[PMID 23405784] [Susceptibility to prostate cancer in Han Chinese: single nucleotide polymorphism analysis of 1 667 cases]
[PMID 23532531] Common Variants at 8q24 are Associated with Prostate Cancer Risk in Serbian Population
[PMID 24037955] The presence of prostate cancer at biopsy is predicted by a number of genetic variants
[PMID 24224612] Association of RNASEL and 8q24 variants with the presence and aggressiveness of hereditary and sporadic prostate cancer in a hispanic population
[PMID 22821767] 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 22848662] Polymorphisms on 8q24 are associated with lung cancer risk and survival in Han Chinese.
[PMID 22848671] Association of eleven common, low-penetrance colorectal cancer susceptibility genetic variants at six risk loci with clinical outcome.
[PMID 23628314] A replication study examining association of rs6983267, rs10090154, and rs1447295 common single nucleotide polymorphisms in 8q24 region with prostate cancer in Siberians.
[PMID 25252079] 8q24 risk alleles and prostate cancer in African-Barbadian men
| GWAS snp | |
|---|---|
| PMID | [PMID 24753544]
|
| Trait | Prostate cancer |
| Title | Genetic variation in prostate-specific antigen-detected prostate cancer and the effect of control selection on genetic association studies. |
| Risk Allele | A |
| P-val | 6E-18 |
| Odds Ratio | .51 [0.40-0.63] unit increase |
[PMID 25684153] A simple-to-use method incorporating genomic markers into prostate cancer risk prediction tools facilitated future validation
[PMID 25939847] Association of common variants on chromosome 8q24 with gastric cancer in Venezuelan patients
[PMID 28552848] Meta-analysis of association between rs1447295 polymorphism and prostate cancer susceptibility.
[PMID 28978014] Meta-analysis of association between rs1447295 polymorphism and prostate cancer susceptibility.
[PMID 29232378] Genetic variations at 8q24 and gastric cancer susceptibility: A meta-analysis study.
[PMID 32295536] Association study between common variations in some candidate genes and prostate adenocarcinoma predisposition through multi-stage approach in Iranian population.
