Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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G | 0.760 | SusceptibilityMutation | CLINVAR | A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. | 23236557 | 2013 |
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G | 0.760 | SusceptibilityMutation | CLINVAR | There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant. | 17553133 | 2007 |
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G | 0.760 | SusceptibilityMutation | CLINVAR | Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer. | 17545528 | 2007 |
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G | 0.760 | SusceptibilityMutation | CLINVAR | This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors. | 16280033 | 2005 |
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G | 0.760 | SusceptibilityMutation | CLINVAR | A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. | 10945602 | 2000 |
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T | 0.720 | GeneticVariation | GWASDB | A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. | 22976474 | 2012 |
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0.700 | GeneticVariation | UNIPROT |