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rs9642880

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2 Slightly lower risk of Bladder Cancer.
(G;T) 1.5 1.2x increased bladder cancer risk
(T;T) 2 1.5x increased bladder cancer risk
ReferenceGRCh38 38.1/142
Chromosome8
Position127705823
GeneCASC11
is asnp
is mentioned by
dbSNPrs9642880
ebirs9642880
HLIrs9642880
Exacrs9642880
Varsomers9642880
Maprs9642880
PheGenIrs9642880
hapmaprs9642880
1000 genomesrs9642880
hgdprs9642880
ensemblrs9642880
gopubmedrs9642880
geneviewrs9642880
scholarrs9642880
googlers9642880
pharmgkbrs9642880
gwascentralrs9642880
openSNPrs9642880
23andMers9642880
23andMe allrs9642880
SNP Nexus

SNPshotrs9642880
SNPdbers9642880
MSV3drs9642880
GWAS Ctlgrs9642880
GMAF0.4963
Max Magnitude2
? (G;G) (G;T) (T;T) 28
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs9642880 is a SNP located in chromosome region 8q24, a region that has been linked to prostate, breast, and colon cancer.

A study ultimately totaling over 4,000 bladder cancer patients of European ancestry (and 40,000 controls) concluded that individuals carrying two copies of rs9642880(T) were at 1.49x increased risk (allele-specific odds ratio = 1.22, p = 9 x 10e-12) for the disease. This SNP was not associated, however, with risk for prostate, breast, or colon cancer.10.1038/ng.229

Another study in Chinese populations found similar results in regard to bladder cancer. [PMID 19369583]

[PMID 18794855OA-icon.png] rs9642880(T;T) estimated risk of developing 1.49 times that of noncarriers. 1,803 urinary bladder cancer cases and 34,336 controls. No association with prostate, colorectal and breast cancers.

[PMID 19801959] In contrast to GSTM1 SNPs, the rs9642880(T) was only associated with increased risk for bladder cancer in cases not selected based on exposure to bladder carcinogens such as aromatic amines and polycyclic aromatic hydrocarbons, based on an analysis of 515 bladder cancer cases and 893 controls where the quality and quantity of occupational exposure to bladder carcinogens was documented.

GWAS
SNP rs9642880
PubMedID [PMID 18794855OA-icon.png]
Condition Urinary bladder cancer
Gene MYC, BC042052
Risk Allele T
pValue 9.00E-012
OR 1.22
95% CI 1.15-1.29


OMIM109800
DescBLADDER CANCER
Variant
Relatedalso


GWAS snp
PMID [PMID 20348956OA-icon.png]
Trait Urinary bladder cancer
Title A sequence variant at 4p16.3 confers susceptibility to urinary bladder cancer
Risk Allele T
P-val 7E-12
Odds Ratio 1.21 [1.15-1.28]


[PMID 21051319OA-icon.png] Risk of Urinary Bladder Cancer is Associated with 8q24 Variant rs9642880[T]: Results from the Los Angeles-Shanghai Case-Control Study

GWAS snp
PMID [PMID 20972438OA-icon.png]
Trait
Title A multi-stage genome-wide association study of bladder cancer identifies multiple susceptibility loci
Risk Allele T
P-val 2E-18
Odds Ratio 1.2100 [1.16-1.27]


[PMID 20065031OA-icon.png] 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 22177160] Genetic variability in 8q24 confers susceptibility to urothelial carcinoma of the upper urinary tract and is linked with patterns of disease aggressiveness at diagnosis.


[PMID 23053209] Genetic polymorphisms on 8q24.1 and 4p16.3 are not linked with urothelial carcinoma of the bladder in contrast to their association with aggressive upper urinary tract tumours


GET Evidence
rs9642880
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.570312
summary



[PMID 22994575] Bladder cancer survival in a former industrial area in Saxony-Anhalt, Germany


[PMID 23284801OA-icon.png] Distinct SNP combinations confer susceptibility to urinary bladder cancer in smokers and non-smokers

GWAS snp
PMID [PMID 24163127OA-icon.png]
Trait Bladder cancer
Title Genome-wide association study identifies multiple loci associated with bladder cancer risk.
Risk Allele T
P-val 4E-38
Odds Ratio 1.24 [1.20-1.28]


[PMID 26884936] The association between rs9642880 gene polymorphism and bladder cancer risk: a meta-analysis.