rs1045485
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 201284866 |
| Gene | CASP8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1045485 |
| dbSNP (classic) | rs1045485 |
| ClinGen | rs1045485 |
| ebi | rs1045485 |
| HLI | rs1045485 |
| Exac | rs1045485 |
| Gnomad | rs1045485 |
| Varsome | rs1045485 |
| LitVar | rs1045485 |
| Map | rs1045485 |
| PheGenI | rs1045485 |
| Biobank | rs1045485 |
| 1000 genomes | rs1045485 |
| hgdp | rs1045485 |
| ensembl | rs1045485 |
| geneview | rs1045485 |
| scholar | rs1045485 |
| rs1045485 | |
| pharmgkb | rs1045485 |
| gwascentral | rs1045485 |
| openSNP | rs1045485 |
| 23andMe | rs1045485 |
| SNPshot | rs1045485 |
| SNPdbe | rs1045485 |
| MSV3d | rs1045485 |
| GWAS Ctlg | rs1045485 |
| GMAF | 0.06795 |
| Max Magnitude | 2 |
| ? | (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]
[PMID 19318553
] 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
[PMID 18431743] 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 18362937] No association seen between rs1045485 and colorectal cancer in 4,000 UK cases.
[PMID 19843670] Association of Breast Cancer Susceptibility Variants with Risk of Pancreatic Cancer
[PMID 20033885] 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
[PMID 21791674] Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
[PMID 22323360] 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 Caspase-8 deficiency not specified |
| Variation | info |
| Gene | CASP8 |
| CLNDBN | Breast cancer, protection against Caspase-8 deficiency not specified |
| Reversed | 0 |
| HGVS | NC_000002.11:g.202149589G>C |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008203.3, RCV000308703.1, RCV000454902.1, |
[PMID 17367212] 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 17940599] Assembly of inflammation-related genes for pathway-focused genetic analysis.
[PMID 18563783] Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.
[PMID 18612136] Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.
[PMID 18823309] Association of polymorphisms in CASP10 and CASP8 with FEV(1)/FVC and bronchial hyperresponsiveness in ethnically diverse asthmatics.
[PMID 19088016] Genetic susceptibility loci for breast cancer by estrogen receptor status.
[PMID 19094228] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
[PMID 19330030] A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
[PMID 19414860] Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies.
[PMID 19423537] 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 20146796] Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
[PMID 20237344] Performance of common genetic variants in breast-cancer risk models.
[PMID 20452958] Single-nucleotide polymorphisms in the p53 signaling pathway.
[PMID 20605201] Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
[PMID 21283657] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
[PMID 21596841] Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
[PMID 21926110] Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.
[PMID 22588838] The apoptosis pathway and the genetic predisposition to Achilles tendinopathy.
[PMID 24528085] Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs
[PMID 25502557] CASP8 SNP D302H (rs1045485) Is Associated with Worse Survival in MYCN-Amplified Neuroblastoma Patients
[PMID 28405167] Genetic variants and increased risk of meningioma: an updated meta-analysis.
[PMID 28674227] A systematic analysis of the association studies between CASP8 D302H polymorphisms and breast cancer risk.
