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rs1045485

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Reduced Risk of Breast Cancer
(C;G) 1.5 slightly (0.89x) lowered risk for breast cancer
(G;G) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome2
Position201284866
GeneCASP8
is asnp
is mentioned by
dbSNPrs1045485
ebirs1045485
HLIrs1045485
Exacrs1045485
Varsomers1045485
Maprs1045485
PheGenIrs1045485
hapmaprs1045485
1000 genomesrs1045485
hgdprs1045485
ensemblrs1045485
gopubmedrs1045485
geneviewrs1045485
scholarrs1045485
googlers1045485
pharmgkbrs1045485
gwascentralrs1045485
openSNPrs1045485
23andMers1045485
23andMe allrs1045485
SNP Nexus

SNPshotrs1045485
SNPdbers1045485
MSV3drs1045485
GWAS Ctlgrs1045485
GMAF0.06795
Max Magnitude2
? (C;C) (C;G) (G;G) 28
rs1045485, also known as D302H, is a SNP in the caspase-8 CASP8 gene.

[PMID 15601643, PMID 17018785, PMID 17293864] Several large studies indicate that the (C) allele of this SNP, located in exon 10 of the CASP8 gene, may reduce the risk of breast cancer in a dose dependent manner. The odds ratio is 0.89 for (C;G) and 0.74 for (C;C) carriers. [PMID 17293864]

article

cancergenetics

[PMID 19318553OA-icon.png] A 4-SNP haplotype including rs1045485 was significantly associated with breast cancer in a large European study (3,000+ cases, 3,000+ controls), with a per allele odds ratio of 1.3 (CI:1.12-1.49).

[PMID 19074885] chronic lymphocytic leukemia rs2266690 rs17028658 rs4505265 rs1045485 rs2779251 rs3136687

Neighborrs17860424
Distance7958
[PMID 18431743OA-icon.png] showed no association with ovarian cancer risk 4,624 invasive epithelial ovarian cancer cases and 8,113 controls of white non-Hispanic origin ovarian cancer

[PMID 18362937OA-icon.png] No association seen between rs1045485 and colorectal cancer in 4,000 UK cases.

OMIM601763
DescCASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
Variant0003
Relatedalso
[PMID 19843670OA-icon.png] Association of Breast Cancer Susceptibility Variants with Risk of Pancreatic Cancer


[PMID 20033885OA-icon.png] Association of CASP8 D302H polymorphism with reduced risk of aggressive prostate carcinoma


[PMID 20564345] Caspase-8 polymorphisms and risk of gallbladder cancer in a Northern Indian population

OMIM601763
Desc
Variant0003
Relatedalso
[PMID 21791674OA-icon.png] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium


[PMID 22323360OA-icon.png] Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: A meta-analysis of genome-wide association studies


ClinVar
Risk rs1045485(C;C)
Alt rs1045485(C;C)
Reference rs1045485(G;G)
Significance Other
Disease Breast cancer
Variation info
Gene CASP8
CLNDBN Breast cancer, protection against
Reversed 0
HGVS NC_000002.11:g.202149589G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000008203.2,



[PMID 17367212OA-icon.png] Association between common variation in 120 candidate genes and breast cancer risk.


[PMID 17932347] Polymorphisms in apoptosis- and proliferation-related genes, ionizing radiation exposure, and risk of breast cancer among U.S. Radiologic Technologists.


[PMID 17940599OA-icon.png] Assembly of inflammation-related genes for pathway-focused genetic analysis.


[PMID 18563783OA-icon.png] Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.


[PMID 18612136OA-icon.png] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.


[PMID 18823309OA-icon.png] Association of polymorphisms in CASP10 and CASP8 with FEV(1)/FVC and bronchial hyperresponsiveness in ethnically diverse asthmatics.


[PMID 19088016OA-icon.png] Genetic susceptibility loci for breast cancer by estrogen receptor status.


[PMID 19094228OA-icon.png] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.


[PMID 19330030OA-icon.png] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).


[PMID 19414860OA-icon.png] Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies.


[PMID 19423537OA-icon.png] Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.


[PMID 19629679] Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis.


[PMID 20146796OA-icon.png] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.


[PMID 20237344OA-icon.png] Performance of common genetic variants in breast-cancer risk models.


[PMID 20452958OA-icon.png] Single-nucleotide polymorphisms in the p53 signaling pathway.


[PMID 20605201OA-icon.png] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.


[PMID 21283657OA-icon.png] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.


[PMID 21596841OA-icon.png] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.


[PMID 21926110OA-icon.png] Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.


[PMID 22588838] The apoptosis pathway and the genetic predisposition to Achilles tendinopathy.


GET Evidence
CASP8-D344H
aa_change Asp344His
aa_change_short D344H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.110801
summary



[PMID 24528085] Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs


[PMID 25502557OA-icon.png] CASP8 SNP D302H (rs1045485) Is Associated with Worse Survival in MYCN-Amplified Neuroblastoma Patients