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
Autoimmune Lymphoproliferative Syndrome Type 2B
0.940 GeneticVariation disease UNIPROT Thus, caspase-8 deficiency in humans is compatible with normal development and shows that caspase-8 has a postnatal role in immune activation of naive lymphocytes. 12353035 2002
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.900 GeneticVariation disease BEFREE Also, the data suggest that caspase-8 gene mutation might lead to the loss of its cell death function and contribute to the pathogenesis of HCC. 15531912 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.900 GeneticVariation disease BEFREE Caspase-8 is frequently mutated or silenced in several tumors including hepatocellular carcinomas (HCC) thereby potentially contributing to chemoresistance. 17922191 2007
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.900 GeneticVariation disease BEFREE These results suggest that the CASP8 -652 6N ins/del polymorphism may play a protective role in the development, progression, and survival of HBV-related HCC among the Chinese Han population. 28643196 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.900 GeneticVariation disease LHGDN Also, the data suggest that caspase-8 gene mutation might lead to the loss of its cell death function and contribute to the pathogenesis of HCC. 15531912 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE A dose-dependent association was observed between the risk of breast cancer and the genetic risk score, which was an aggregate measure of alleles in seven selected variants, namely FGFR2-rs2981579, TOX3/TNRC9-rs3803662, C6orf97-rs2046210, 8q24-rs13281615, SLC4A7-rs4973768, LSP1-rs38137198, and CASP8-rs10931936. 22160591 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Five miRNA binding site SNPs associated significantly with breast cancer risk: rs1045494 (odds ratio (OR) 0.92; 95% confidence interval (CI): 0.88-0.96), rs1052532 (OR 0.97; 95% CI: 0.95-0.99), rs10719 (OR 0.97; 95% CI: 0.94-0.99), rs4687554 (OR 0.97; 95% CI: 0.95-0.99, and rs3134615 (OR 1.03; 95% CI: 1.01-1.05) located in the 3' UTR of CASP8, HDDC3, DROSHA, MUSTN1, and MYCL1, respectively. 25390939 2014
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 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 Ten SNPs (rs2075555 in COL1A1, rs12652447 in FBXL17, rs10941679 in 5p12/MRPS30, rs11878583 in ZNF577, rs7166081 in SMAD3, rs16917302 in ZNF365, rs311499 in 20q13.3, rs1045485 in CASP8, rs12964873 in CDH1 and rs8170 in 19p13.1) were here genotyped in 1009 Chinese females (487 patients with breast cancer and 522 control subjects) using the Sequenom MassARRAY iPLEX platform. 24528085 2014
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 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 We also apply our approach to fine-mapping a region around the CASP8 gene using the iCOGS consortium breast cancer SNP data. 31298427 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE BC patients (n = 1687) randomly sampled in an adjuvant, randomized phase III trial (SUCCESS A study) were genotyped for nine BC risk SNPs: rs17468277 <i>(CASP8)</i> , rs2981582 <i>(FGFR2)</i> , rs13281615(8q24), rs3817198 <i>(LSP1)</i> , rs889312 <i>(MAP3K1)</i> , rs3803662 <i>(TOX3)</i> , rs13387042(2q35), rs4973768 <i>(SLC4A7)</i> , rs6504950 <i>(COX11)</i> . 28757652 2017
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 GeneticVariation disease BEFREE To define a risk haplotype and map the CASP8 gene region with respect to underlying susceptibility variant/s, we screened four genes in the CASP8 region on 2q33-q34 for breast cancer risk. 22056502 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.700 GeneticVariation disease BEFREE Further subgroup analysis indicated that CASP8 -652 6N del polymorphism was associated with breast cancer, lung and gastrointestinal cancer susceptibility. 25553350 2014
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 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 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 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. 20652397 2011
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 Confirmed BC risk SNPs rs17468277 (CASP8), rs1982073 (TGFB1), rs2981582 (FGFR2), rs13281615 (8q24), rs3817198 (LSP1), rs889312 (MAP3K1), rs3803662 (TOX3), rs13387042 (2q35), rs4973768 (SLC4A7), rs6504950 (COX11) and rs10941679 (5p12) were genotyped for 25 853 BC patients with the available follow-up; 62 other SNPs, which have been suggested as BC risk SNPs by a GWAS or as candidate SNPs from individual studies, were genotyped for replication purposes in subsets of these patients. 22532573 2012
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