Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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0.780 | GeneticVariation | BEFREE | We describe a case of papillary thyroid carcinoma with fibromatosis/fasciitis-like stroma (PTC-FLS) that contained the rare BRAF c.1799_1801delTGA (p.V600_K601delinsE) mutation, which has not previously been reported in this tumour, as well as the CTNNB1 c.133T>C (p.S45P) mutation. | 31327063 | 2019 |
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0.780 | GeneticVariation | BEFREE | We confirmed the presence of RAS mutations and BRAF K601E mutation in benign, borderline, and malignant follicular-patterned tumors. | 29723601 | 2018 |
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0.780 | GeneticVariation | BEFREE | The patients with BRAF K601E- and T599_V600insAGA-mutated tumors had similar clinicopathologic features to those with BRAF V600E-mutated tumors. | 29037218 | 2017 |
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0.780 | GeneticVariation | BEFREE | Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). | 26643848 | 2016 |
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0.780 | GeneticVariation | BEFREE | All cases positive for the BRAF(K601E) mutation were reviewed to confirm histopathologic diagnosis and establish tumor variant, and clinical charts were reviewed to obtain clinical characteristics and follow-up information. | 26422023 | 2016 |
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0.780 | GeneticVariation | BEFREE | Cytology was consistent with "follicular neoplasia" (negative for galectin-3 immunostaining); molecular analysis on the cytology sample detected a K601E mutation in the exon 15 of the BRAF gene. | 22136270 | 2011 |
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0.780 | GeneticVariation | BEFREE | This technique, together with an earlier described real-time test specific for V600E and K601E will be useful for research and molecular diagnostic laboratories involved in the study of BRAF-related neoplasia. | 20186005 | 2010 |
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0.780 | GeneticVariation | BEFREE | The tumor was found to be BRAF mutation positive (K601E). | 20718682 | 2010 |
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C | 0.780 | GeneticVariation | CLINVAR | Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. | 15035987 | 2004 |