Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE However, there was no significant association between BRAF(V600E) mutation and factors including age > 45 (OR = 0.98; 95%CI = 0.89-1.07), tumor size (OR = 0.84; 95%CI = 0.64-1.09) and distant metastasis (OR = 1.23; 95%CI = 0.67-2.27). 26871894

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Interestingly, cells carrying the BRAF(V600E) mutation were not only found among cells surrounding the primary tumor but were also present in the stroma of melanoma metastases as well as in a histologically tumor-free re-excision sample from a patient who subsequently developed a local recurrence. 27338362

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The effect of BRAF-I on IFNAR1 expression was assessed in three melanoma cell lines and in four biopsies of BRAF(V600E) metastases. 26851802

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We investigated whether the presence of a BRAF V600E mutation is differentially associated with sites and appearance of metastatic disease in patients matched by primary tumor location. 27956538

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The clinical response to timely postsurgical RAI therapy is not inferior in BRAF(V600E) mutation PTC patients without distant metastases, which suggests that RAI therapy might improve the general clinical outcome in this patient group. 26780618

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE There was no significant correlation with BRAF (V600E) mutation and age, gender, tumor size, ETE, central lymph node metastasis, the status of pT, pN1a-b, and distant metastasis. 26951110

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Compared with wild-type BRAF, the BRAF(V600E) mutation was associated with aggressive clinicopathological factors, including extrathyroidal extension, higher TNM stage, lymph node metastasis, and recurrence, and was associated with reduced overall survival; however, there was no significant association between the presence of BRAF mutation and distant metastasis. 27600854

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Tumour engraftment permits dynamic imaging of neovascularization, niche partitioning of tumour-propagating cells in embryonal rhabdomyosarcoma, emergence of clonal dominance in T-cell acute lymphoblastic leukaemia and tumour evolution resulting in elevated growth and metastasis in BRAF(V600E)-driven melanoma. 26790525

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We also observed a positive association between BRAF V600E and TERT C228T mutations in the cohort of DM-PTCs. 25583906

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This is the largest study on the aggressive role of TERT promoter mutations in ATC, demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC. 25584719

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We also studied the role of BRAF V600E mutation in a set of melanoma patients who had been investigated for sentinel node metastasis. 25442222

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Previous studies implicating aberrant AKT signaling in human melanoma metastases led us to evaluate the effect of activated AKT1 expression in non-metastatic BRAF(V600E)/Cdkn2a(Null) mouse melanomas in vivo. 26565903

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We present a case of a 56-year old woman with a history of stage IIIA malignant melanoma resected in 2004 that was diagnosed in May 2013 with BRAF V600E-mutated metastatic disease (left arm mass, lungs and adrenal glands). 25576527

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The higher incidence of p.V600E mutations in LNs may prompt further studies to elucidate if the p.V600E mutation in primary tumors is associated with a higher risk of LN metastasis. 25456393

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In this study we compared drug responses to RAF and MEK inhibitors on tumor cell migration in 2D and 3D culture of BRAF(V600E) mutant cell lines derived from human papillary (BCPAP) and anaplastic (SW1736) thyroid carcinomas. 26384551

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This study correlates histological features, immunoreactivity for CK19, HBME, and Gal, and BRAF V600E mutation with lymph node (LN) metastasis and follow-up in FVPTC. 25702102

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We also studied the role of BRAF V600E mutation in a set of melanoma patients who had been investigated for sentinel node metastasis. 25442222

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The higher incidence of p.V600E mutations in LNs may prompt further studies to elucidate if the p.V600E mutation in primary tumors is associated with a higher risk of LN metastasis. 25456393

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We also observed a positive association between BRAF V600E and TERT C228T mutations in the cohort of DM-PTCs. 25583906

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE This is the largest study on the aggressive role of TERT promoter mutations in ATC, demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC. 25584719

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE This study correlates histological features, immunoreactivity for CK19, HBME, and Gal, and BRAF V600E mutation with lymph node (LN) metastasis and follow-up in FVPTC. 25702102

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In this study we compared drug responses to RAF and MEK inhibitors on tumor cell migration in 2D and 3D culture of BRAF(V600E) mutant cell lines derived from human papillary (BCPAP) and anaplastic (SW1736) thyroid carcinomas. 26384551

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE dMMR and BRAF V600E mutations were identified in 31 of 208 (14.9%) and 23 of 211 (10.9%) tumors, respectively. dMMR was more commonly found in patients with primary colon tumors rather than rectal cancer (20.4% vs 7.6%, P =0.01), but there was no difference in MMR status between the right-sided and left-sided colon tumors (20.8% vs 34.6%, P = 0.24). dMMR was associated with early-stage rather than metastatic disease (17.3% vs 0%, P = 0.015). 25624727

2015

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We present a case of a 56-year old woman with a history of stage IIIA malignant melanoma resected in 2004 that was diagnosed in May 2013 with BRAF V600E-mutated metastatic disease (left arm mass, lungs and adrenal glands). 25576527

2015