CASP8, caspase 8, 841

N. diseases: 480; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3769821
rs3769821
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.710 GeneticVariation BEFREE Also, the C allele of rs3769821 was associated with a 43% increased risk of breast cancer (P = 0.005); however, after adjustment for confounding factors, no association with rs3769821 and breast cancer was observed. 31257627 2019
dbSNP: rs3769821
rs3769821
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
T 0.710 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Our data showed a protective effect for CC genotype of rs1045485 variant and C-C haplotype of rs10931936-rs104548 in CASP8 in association with the decrease risk of breast cancer whereas rs10931936 showed no significant association. 31362911 2019
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Association of caspase 8 polymorphisms -652 6N InsDel and Asp302His with progression-free survival and tumor infiltrating lymphocytes in early breast cancer. 31467295 2019
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Prognostic relevance of caspase 8 -652 6N InsDel and Asp302His polymorphisms for breast cancer. 27507139 2016
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE CASP8 D302H was found to be only associated with breast cancer risk. 25553350 2014
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Furthermore, the CASP8 D302H positive females showed a 50% probability of being free of BC by the age of 78 versus the 2% of the CASP8 negative ones. 19214744 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE CASP8 D302H was associated with reduced breast cancer risk (for H carriers: pooled OR = 0.874, 95% CI: 0.834-0.917). 19629679 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Recent work in breast carcinoma has implicated the histidine variant of CASP8 D302H (rs1045485) as a protective risk allele. 20033885 2010
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation 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
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE The CASP8 polymorphism D302H has recently been shown to influence the risk of breast cancer. 18823701 2009
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE One such variant in the caspase-8 (CASP8) gene, D302H (rs1045485), has been confirmed to be associated with breast cancer risk, although the functional effect of this polymorphism (if any) is not yet clear. 19318553 2009
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE Both approaches showed statistically significant decreased breast cancer risks for CASP8 D302H. 19367188 2009
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation 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
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation 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
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation 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
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation 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
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE For five SNPs--CASP8 D302H, IGFBP3 -202 c>a, PGR V660L, SOD2 V16A, and TGFB1 L10P--the associations with breast cancer were of borderline statistical significance (P = .016, .060, .047, .056, and .0088 respectively). 17018785 2006
dbSNP: rs1045485
rs1045485
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.100 GeneticVariation BEFREE 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
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation BEFREE Our results indicate that genetic variations in the promoter region of CASP8 gene, especially rs3834129, may serve as a genetic risk factor for breast cancer in an Iranian population. 31257627 2019
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation BEFREE The minor allele of two caspase 8 polymorphisms, namely CASP8 -652 6N InsDel (rs3834129) and CASP8 Asp302His (rs1045485), were repeatedly associated with reduced breast cancer susceptibility. 27507139 2016
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation BEFREE Bi-directional PCR allele-specific amplification (bi-PASA) for detection of caspase-8 -652 6N ins/del promoter polymorphism (rs3834129) in breast cancer. 22659694 2012
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation BEFREE These results suggest that the minor allele del of rs3834129 is associated under a dominant model with increased breast cancer risk in carriers of BRCA1 mutations but not in carriers of BRCA2 mutations. 20652397 2011
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.050 GeneticVariation 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
dbSNP: rs10931936
rs10931936
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.020 GeneticVariation BEFREE Our data showed a protective effect for CC genotype of rs1045485 variant and C-C haplotype of rs10931936-rs104548 in CASP8 in association with the decrease risk of breast cancer whereas rs10931936 showed no significant association. 31362911 2019