| 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 | BRAF-V600E mutation was significantly associated with proximal localisation (OR = 2.71; P < 0.00001) and CIMP-H status (OR = 4.81; P < 0.0001) in both SSA and TSA, with polyp size <10 mm (OR = 0.41; P = 0.02) in TSA, and with endoscopic pit pattern II-O (OR = 13.11; P < 0.00001) and expression of MUC5A5 (OR = 4.43; P = 0.003) and MUC6 (OR = 2.28; P < 0.05) in SSA. | 30815911 | 2019 |
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0.070 | GeneticVariation | BEFREE | The BRAF(V600E) mutation was present in four polyps, all of SSA subtype (one with dysplasia). | 27020206 | 2016 |
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0.070 | GeneticVariation | BEFREE | BRAF((V600E)) mutation is not a frequent event in right colon serrated polyps in a subset of the Chinese population. | 24570042 | 2014 |
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0.070 | GeneticVariation | BEFREE | We proposed that immunohistochemical detection of BRAF((V600E)) using a BRAF((V600E)) mutation-specific antibody is a feasible technique for reproducibly identifying proximal serrated polyps with malignant potential in clinical practice, which may need more aggressive treatment and vigilant clinical monitoring. | 25550768 | 2014 |
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0.070 | GeneticVariation | BEFREE | Previous studies demonstrated a high prevalence of a BRAF p.V600E mutation in perineuriomas with serrated crypts and suggested that perineuriomas without crypt serration may represent an unrelated, different type of polyp. | 23588369 | 2013 |
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0.070 | GeneticVariation | BEFREE | All polyps showed the BRAF-V600E mutation. | 23648458 | 2013 |
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0.070 | GeneticVariation | BEFREE | Molecular testing was successful in 6 polyps, showing BRAF mutation (V600E) in 2 polyps, KRAS mutation in 2 polyps, and no mutation for either gene in 2 polyps. | 21733555 | 2011 |