rs121913364, BRAF

N. diseases: 34
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation BEFREE The tumor was found to be BRAF mutation positive (K601E). 20718682 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.780 GeneticVariation CLINVAR Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. 15035987 2004