Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.070 | GeneticVariation | BEFREE | Here, we describe how the hyperactivation of Rac1 via the P29S mutation (Rac1<sup>P29S</sup>) in melanoma hijacks branched actin network assembly to coordinate proliferative cues that facilitate metastasis and drug resistance. | 31063759 | 2019 |
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0.070 | GeneticVariation | BEFREE | A point mutation (P29S) in the RAS-related C3 botulinum toxin substrate 1 (RAC1) was considered to be a trigger for melanoma, a form of skin cancer with highest mortality rate. | 27699663 | 2016 |
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0.070 | GeneticVariation | BEFREE | RAC1 P29S regulates PD-L1 expression in melanoma. | 26176707 | 2015 |
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0.070 | GeneticVariation | BEFREE | RAC1 is a GTPase member of the RAS superfamily, and RAC1(P29S) was recently identified as the third most common recurrent mutation in melanomas, affecting 4-7% of the patients. | 25465943 | 2015 |
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0.070 | GeneticVariation | BEFREE | Conversely, RNAi-mediated silencing of endogenous RAC1 P29S in a melanoma cell line with a co-occurring BRAF V600 mutation increased sensitivity to vemurafenib and dabrafenib. | 25056119 | 2014 |
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0.070 | GeneticVariation | BEFREE | Clinical and pathological associations of the activating RAC1 P29S mutation in primary cutaneous melanoma. | 25043693 | 2014 |
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0.070 | GeneticVariation | BEFREE | The melanoma RAC1(P29S) gain-of-function point mutation therefore represents a previously undescribed class of cancer-related GTPase activity. | 23284172 | 2013 |
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0.010 | GeneticVariation | BEFREE | In multivariate logistic regression, <i>RAC1</i> rs10951982 (OR 6.15, 95% CI: 2.98 to 13.41; <i>p</i> < 0.001) remained significantly associated with increased risk of melanoma. | 29342889 | 2018 |