{{Rsnum
|rsid=1045485
|Gene=CASP8
|Chromosome=2
|position=201284866
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.06795
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=CASP8
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 1.5 | 21.5 | 76.9
| HCB | 0.0 | 0.0 | 100.0
| JPT | 0.0 | 0.0 | 100.0
| YRI | 0.0 | 3.2 | 96.8
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 0.0 | 100.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=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}}

[http://www.infozine.com/news/stories/op/storiesView/sid/20982/ article]

[http://cancergenetics.wordpress.com/2007/10/05/caspase-8-story-breast-cancer/ cancergenetics]

{{PMID|19318553|OA=1
}} 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]]

{{ neighbor
| rsid = 17860424
| distance = 7958
}}

{{PMID|18431743|OA=1
}}  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|OA=1
}} No association seen between [[rs1045485]] and colorectal cancer in 4,000 UK cases.

{{omim
|desc=CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8
|id=601763
|rsnum=1045485
|variant=0003
}}
{{PMID Auto
|PMID=19843670
|Title=Association of Breast Cancer Susceptibility Variants with Risk of Pancreatic Cancer
|OA=1
}}

{{PMID Auto
|PMID=20033885
|Title=Association of CASP8 D302H polymorphism with reduced risk of aggressive prostate carcinoma
|OA=1
}}

{{PMID Auto
|PMID=20564345
|Title=Caspase-8 polymorphisms and risk of gallbladder cancer in a Northern Indian population
}}

{{omim
|id=601763
|rsnum=1045485
|variant=0003
}}

{{PMID Auto
|PMID=21791674
|Title=Interactions Between Genetic Variants and Breast Cancer Risk Factors in the Breast and Prostate Cancer Cohort Consortium
|OA=1
}}

{{PMID Auto
|PMID=22323360
|Title=Genotypic variants at 2q33 and risk of esophageal squamous cell carcinoma in China: A meta-analysis of genome-wide association studies
|OA=1
}}

{{ClinVar
|rsid=1045485
|Reversed=0
|FwdREF=G
|FwdALT=C
|REF=G
|ALT=C
|RSPOS=202149589
|CHROM=2
|GMAF=0.0678
|dbSNPBuildID=86
|SSR=0
|SAO=1
|VP=0x050368000000150517110101
|GENEINFO=CASP8:841
|GENE_NAME=CASP8
|GENE_ID=841
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000002.11:g.202149589G>C
|CLNORIGIN=1
|CLNSIG=255
|Tags=PM;PMC;S3D;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.932; 0.06795
|CLNACC=RCV000008203.1
|CLNDBN=Breast cancer, protection against
|CLNSRC=OMIM Allelic Variant
|CLNSRCID=601763.0003
|COMMON=1
|Disease=Breast cancer
}}

{{PMID Auto
|PMID=17367212
|Title=Association between common variation in 120 candidate genes and breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=17932347
|Title=Polymorphisms in apoptosis- and proliferation-related genes, ionizing radiation exposure, and risk of breast cancer among U.S. Radiologic Technologists.
}}

{{PMID Auto
|PMID=17940599
|Title=Assembly of inflammation-related genes for pathway-focused genetic analysis.
|OA=1
}}

{{PMID Auto
|PMID=18563783
|Title=Genetic variants and haplotypes of the caspase-8 and caspase-10 genes contribute to susceptibility to cutaneous melanoma.
|OA=1
}}

{{PMID Auto
|PMID=18612136
|Title=Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18823309
|Title=Association of polymorphisms in CASP10 and CASP8 with FEV(1)/FVC and bronchial hyperresponsiveness in ethnically diverse asthmatics.
|OA=1
}}

{{PMID Auto
|PMID=19088016
|Title=Genetic susceptibility loci for breast cancer by estrogen receptor status.
|OA=1
}}

{{PMID Auto
|PMID=19094228
|Title=The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19330030
|Title=A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1).
|OA=1
}}

{{PMID Auto
|PMID=19414860
|Title=Genetic variation in caspase genes and risk of non-Hodgkin lymphoma: a pooled analysis of 3 population-based case-control studies.
|OA=1
}}

{{PMID Auto
|PMID=19423537
|Title=Five polymorphisms and breast cancer risk: results from the Breast Cancer Association Consortium.
|OA=1
}}

{{PMID Auto
|PMID=19629679
|Title=Association of two CASP8 polymorphisms with breast cancer risk: a meta-analysis.
}}

{{PMID Auto
|PMID=20146796
|Title=Familial relative risks for breast cancer by pathological subtype: a population-based cohort study.
|OA=1
}}

{{PMID Auto
|PMID=20237344
|Title=Performance of common genetic variants in breast-cancer risk models.
|OA=1
}}

{{PMID Auto
|PMID=20452958
|Title=Single-nucleotide polymorphisms in the p53 signaling pathway.
|OA=1
}}

{{PMID Auto
|PMID=20605201
|Title=Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study.
|OA=1
}}

{{PMID Auto
|PMID=21283657
|Title=Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
|OA=1
}}

{{PMID Auto
|PMID=21596841
|Title=Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium.
|OA=1
}}

{{PMID Auto
|PMID=21926110
|Title=Population-specific genetic associations with oesophageal squamous cell carcinoma in South Africa.
|OA=1
}}

{{PMID Auto
|PMID=22588838
|Title=The apoptosis pathway and the genetic predisposition to Achilles tendinopathy.
}}

{{GET Evidence
|gene=CASP8
|aa_change=Asp344His
|aa_change_short=D344H
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1045485
|overall_frequency_n=1192
|overall_frequency_d=10758
|overall_frequency=0.110801
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=5
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=3
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=24528085
|Title=Breast Cancer Association Studies in a Han Chinese Population using 10 European-ancestry-associated Breast Cancer Susceptibility SNPs
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}