| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | BEFREE | Collectively, these data demonstrate an important role for the K303R ERalpha mutation in hormonal regulation of tumor growth and estrogen-regulated promoter dynamics in human breast cancer. | 19842032 | 2010 |
||||
|
0.080 | GeneticVariation | BEFREE | Our data suggest that the K303R mutation and the S305 ERalpha residue may be a novel determinant of AI response in breast cancer, and blockade of S305 phosphorylation represents a new therapeutic strategy for treating tumors resistant to hormone therapy. | 20101208 | 2010 |
||||
|
0.080 | GeneticVariation | BEFREE | Expression of the K303R estrogen receptor-alpha breast cancer mutation induces resistance to an aromatase inhibitor via addiction to the PI3K/Akt kinase pathway. | 19487288 | 2009 |
||||
|
0.080 | GeneticVariation | BEFREE | Indeed, a breast cancer-associated mutation at K303 (K303R) alters methylation at K302 in vitro and in vivo. | 18471979 | 2008 |
||||
|
0.080 | GeneticVariation | BEFREE | ESR1 A908G mutation-positive breast cancer was significantly associated with a first-degree family history of breast cancer (odds ratio [OR] = 2.69, 95% confidence interval [CI] = 1.15 to 6.28), whereas mutation-negative breast cancer was not. | 17553133 | 2007 |
||||
|
0.080 | GeneticVariation | BEFREE | The A908G (Lys303-->Arg) change in the gene encoding oestrogen receptor-alpha (ER-alpha) creates a hypersensitivity to oestradiol and would have significant consequences if present in breast carcinoma, especially those treated with endocrine therapy. | 15642159 | 2005 |
||||
|
0.080 | GeneticVariation | BEFREE | 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 |
||||
|
0.080 | GeneticVariation | BEFREE | No hypersensitive estrogen receptor-alpha mutation (K303R) in Japanese breast carcinomas. | 15026626 | 2004 |