rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and 6 of 10 distant metastases) harbored the V599E B-RAF mutation (39%), 12 contained a Q61R N-RAS mutation and 5 a Q61K N-RAS mutation. 14695143 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372 2003
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Detection of B-raf exon 15 mutations or prediction of the activating mutation V599E were not statistically associated with the risk for subsequent metastasis in the follow-up of patients. 15331929 2004
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. 15272920 2004
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, and 9 of 12 distant metastases) harbored the V599E B-RAF mutation (59%), 17 contained a Q61R N-RAS mutation, and 4 contained a Q61K N-RAS mutation. 15737846 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Unexpectedly, V599 and V599E mutations were absent in cutaneous/subcutaneous metastases derived from acrolentiginous melanomas as preceding primary tumours. 15935100 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In line with the previous reports, NRAS/BRAF mutations were rare; only one metastatic tumor had an NRAS E61R mutation, and one primary tumor and two metastases harbored BRAF V599E mutations. 16098043 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF(V600E) significantly correlated with absence of node metastasis. 16452550 2006
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In summary, this study provides a mechanistic basis for targeting Mek and not B-Raf in the mutant (V600E)B-Raf signaling cascade to inhibit melanoma metastases. 16912199 2006
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Together, these results suggest that targeting mutant (V600E)B-Raf reduces melanoma cell extravasation by decreasing IL-8 production and interrupting ICAM-1-beta2 integrin binding of melanoma cells to the endothelium mediated by PMNs in the microcirculation, which provides a rationale and mechanistic basis for targeting mutant (V600E)B-Raf to inhibit melanoma extravasation and subsequent metastasis development. 17575149 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF V600E was associated with extrathyroidal invasion (P < 0.0001), multicentricity (P = 0.0026), presence of nodal metastases (P = 0.0009), class III vs. classes I and II (P < 0.00000006), and absence of tumor capsule (P < 0.0001), in particular in follicular- and micro-PTC variants. 17785355 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was detected in 88 of the tumors examined, with significant differences between groups with and without lymph node (LN) metastases; the mean age of patients with BRAF(V600E) mutation was significantly higher than that of patients without mutations. 17685465 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In patients with conventional papillary thyroid cancer, BRAF V600E mutation was associated with older age (P = 0.0381), lymph node metastasis (P = 0.0323), distant metastasis (P = 0.045), higher TNM stage (I and II vs. III and IV, P = 0.0389), and recurrent and persistent disease (P = 0.009) with a median follow-up time of 6.0 years. 17717450 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is identified in a subset of cutaneous metastases from PTC. 17387744 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In this study, the BRAF (V600E) mutation in 54 PTCs was investigated and the relationship between the BRAF mutation and clinicopathological features such as age, gender, tumor size, extrathyroid extension, lymph node metastasis, and distant metastasis was analyzed. 17972530 2007
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Univariate analysis indicated that BRAF((V600E)) was associated with greater tumor size (P=0.0048), extra-thyroid invasion (P<0.0001), and cervical lymph nodal metastases (P=0.0001). 18310287 2008
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE At univariate analysis the worst outcome for PTC patients was significantly correlated with clinicopathological features (i.e. age, tumor size, extrathyroid extension, lymph node and distant metastases, advanced stage, vascular endothelial growth factor expression, and vascular invasion) and the BRAF(V600E) mutation (P < 0.002). 18682506 2008
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE The prevalence of BRAF(V600E) mutation of PTMCs with high aggressiveness (advanced disease stages, extrathyroidal extension, and nodal metastasis) was significantly higher (p < 0.05) than that of PTMCs without aggressive behavior. 19034577 2009
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE The activating mutation BRAF(V600E) is a frequent genetic event in papillary thyroid carcinomas (PTC) that predicts a poor prognosis, leading to loss of sodium/iodide symporter (NIS) expression and subsequent radioiodide-refractory metastatic disease. 19861538 2009
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In conclusion, B-Raf(V600E) plays an important role in PTC progression through genes (i.e., TSP-1) important in tumor invasion and metastasis. 20498063 2010
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE We therefore analyzed the correlation of BRAF V600E and ERK-activation in 20 malignant melanomas and 21 subsequently evolved, paired metastases of the same donor by BRAF exon 15 DNA sequencing and phospho-specific immunohistochemistry for ERK. 20605766 2010
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Patients with PTC harboring the BRAF(V600E) mutation seem to display a more aggressive clinical behavior, but little is known about the role of this mutation in crucial processes in the tumor microenvironment, such as tumor adhesion, migration, invasion, and metastasis. 21447745 2011
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE Patients with BRAF(V600E) wild-type primary tumor do not appear to acquire the mutation in their metastases, and BRAF(V600E) is associated with poorer outcomes in metastatic patients. 20635392 2011
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.100 GeneticVariation BEFREE In malignant FNABs, BRAF(V600E) mutation was significantly associated with presence of extra-thyroidal extension and metastases after surgery. 21948220 2011