Promethease 0.1.82

Rs1045485

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dbSNPrs1045485
hapmaprs1045485
hgdprs1045485
ensemblrs1045485
gopubmedrs1045485
scholarrs1045485
googlers1045485
pharmgkbrs1045485
hgvbaseg2prs1045485
medrefsnprs1045485
23andMers1045485
SNP Nexus

GeneCASP8
Chromosome2
Orientationplus
Position201857834
GenotypeEffect
rs1045485(C;C)*?
rs1045485(C;G)*?
rs1045485(G;G)*?


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 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

Neighborrs17860424
Distance7958
? (C;C) (C;G) (G;G)

[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.

Related to CASPASE 8, APOPTOSIS-RELATED CYSTEINE PROTEASE; CASP8 according to omim 601763. See also


[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

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