CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE In conclusion, the result suggests that the CASP8 -652 6N del polymorphism plays a protective role in susceptibility to breast cancer in our population. 22659694 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. 20652397 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression disease BEFREE Fas/FasL-dependent and -independent activation of caspase-8 in doxorubicin-treated human breast cancer MCF-7 cells: ADAM10 down-regulation activates Fas/FasL signaling pathway. 21854868 2011
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Our results support that the presence of the CASP8 D302H polymorphism diminishes the high risk of BC conferred by BRCA1 and BRCA2 mutations, making possible that some of the carriers could escape from suffering BC along their life span. 19214744 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Recent work in breast carcinoma has implicated the histidine variant of CASP8 D302H (rs1045485) as a protective risk allele. 20033885 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Consistent with their breast cancer associations, rs3817198 (LSP1) and rs13281615 (8q) were associated with dense area and percent dense area (all P(x) and P(c) <0.05), and rs889312 (MAP3K1), rs2107425 (H19), and rs17468277 (CASP8) were marginally associated with dense area (some P(x) or P(c) <0.05). 20145138 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE The minor allele of CASP8 D302H was significantly associated with a reduced risk of breast cancer (per-allele HR, 0.85; 95% CI, 0.76-0.97; P(trend) = 0.011) and ovarian cancer (per-allele HR, 0.69; 95% CI, 0.53-0.89; P(trend) = 0.004) for BRCA1 but not for BRCA2 mutation carriers. 20978178 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE CASP8 -652 6N del was associated with reduced breast cancer risk at a borderline level (for del carriers: pooled OR = 0.884, 95% CI: 0.761-1.028); the power calculation pointed to lack of power in the individual studies. 19629679 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 PosttranslationalModification disease BEFREE The CpG sites in the promoter region of CASP8 and maspin were methylated in all four breast cancer cell lines but not in two non-tumorigenic breast cell lines. 20132554 2010
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE In order to further map the CASP8 gene with respect to breast cancer susceptibility, we performed extensive haplotype analyses using single nucleotide polymorphisms (SNP) chosen to tag all common variations in the gene (tSNP). 19318553 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. 18823701 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Both approaches showed statistically significant decreased breast cancer risks for CASP8 D302H. 19367188 2009
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Polymorphisms in CASP8 at 2q33.1 have been associated with the risk of developing cancer, specifically, the D302H variant (rs1045485) with breast cancer in the European population and the -652 6N ins/del promoter variant (rs3834129) with multiple tumours including colorectal cancer (CRC) in the Chinese population. 18362937 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE The present result indicates that the CASP8 -652 6N del variant has no significant effect on BC risk in Europeans. 17891485 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 AlteredExpression disease BEFREE AMR-Me induced DNA fragmentation and PARP degradation which were preceded by changing Bax/Bcl-2 ratios, cytochrome c release, and subsequent induction of pro-caspase-9 and -7 processing in breast carcinoma MCF-7 cells, but it did not act on Fas/Fas ligand pathways and the activation of caspase-8, suggesting AMR-Me triggered the mitochondrial apoptotic pathway. 18058803 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Recent work from large consortial studies has led to the discovery of novel breast cancer susceptibility loci in genic (CASP8, FGFR2, TNRC9, MAP3K1, LSP1) and nongenic regions (8q24, 2q35, 5p12) of the genome, and to the finding of substantial heterogeneity by tumor characteristics. 19088016 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE We confirmed previous associations between increased breast cancer risk and SNPs in CASP8, TOX3 (previously known as TNRC9) and ESR1. 19094228 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Our results thus suggest that the CASP8 5'-UTR C > T are associated with breast cancer risks and the effect may be modified by estrogen and progesterone receptor status. 17940865 2008
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease CTD_human A six-nucleotide insertion-deletion polymorphism in the CASP8 promoter is associated with susceptibility to multiple cancers. 17450141 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE In multivariate analyses, we observed a significantly decreased risk of breast cancer associated with the homozygous minor allele of CASP8 D302H [rs1045485, odds ratio (OR), 0.3; 95% confidence interval (95% CI), 0.1-0.8]. 17932347 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i. 17293864 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease CTD_human We found evidence of an association with breast cancer for CASP8 D302H (with odds ratios (OR) of 0.89 (95% confidence interval (c.i.): 0.85-0.94) and 0.74 (95% c.i. 17293864 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease BEFREE Impaired kinetics of Bax-GFP and Smac/DIABLO-GFP in caspase-8- and bid-silenced and Bcl-2 overexpressed breast cancer MCF-7 cells exposed to camptothecin. 17666167 2007
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE As CASP10 and CASP8 functionally co-operate during apoptosis, we analysed the mutual effect of both CASP10 V410I and CASP8 D302H, resulting in a significant association between the number of the variant alleles I410 and H302 and a highly decreased familial BC risk (OR = 0.35, P(trend) = 0.007), pointing to the interaction between the CASP10 and CASP8 polymorphisms in breast carcinogenesis. 16251207 2006
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 Biomarker disease CTD_human The reproducible, dose-dependent association of CASP8 D302H with breast cancer indicates the potential importance of inherited variation in the apoptosis pathway in breast cancer susceptibility. 15601643 2004