Variant Gene Disease 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
0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2018
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 2011
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 CASP8 D302H polymorphism delays the age of onset of breast cancer in BRCA1 and BRCA2 carriers. 19214744 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 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 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 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
0.020 GeneticVariation BEFREE The CASP8 rs3834129 polymorphism and breast cancer risk in BRCA1 mutation carriers. 20652397 2011
dbSNP: rs3834129
rs3834129
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.020 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: rs2293554
rs2293554
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Several SNPs were associated with all, ER-positive, and HER2-positive breast cancers; however, after correcting for multiple comparisons (i.e., p < 0.0008), only rs2293554 was statistically significantly associated with HER2-positive breast cancer (OR = 1.98, 95% CI 1.34-2.92, uncorrected p = 0.0005). 26758508 2016
dbSNP: rs1045494
rs1045494
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation 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 2015
dbSNP: rs10931936
rs10931936
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation 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
dbSNP: rs3817578
rs3817578
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012
dbSNP: rs6723097
rs6723097
Entrez Id: 841
Gene Symbol: CASP8
CASP8
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We identified a three-SNP haplotype across rs3834129, rs6723097, and rs3817578 that was significantly associated with breast cancer (P < 5 × 10(-6)), with a dominant risk ratio and 95% CI of 1.28 (1.21-1.35) and frequency of 0.29 in controls. 22056502 2012