rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889 2003
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is identified in a subset of cutaneous metastases from PTC. 17387744 2007
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE Additional analyses of multiple metastatic samples from individual patients using the highly sensitive MS-PCR without microdissection revealed that 5/19 (26%) patients had metastases that were discordant for the BRAF(V600E) mutation. 22235286 2012
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation in papillary thyroid carcinoma: significant association with node metastases and extra thyroidal invasion. 22105775 2012
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE One-hundred and twenty-nine papillary thyroid microcarcinomas were tested for BRAF(V600E) mutation by single-strand conformation polymorphism, and their clinicopathologic features (age, sex, tumor size, multifocality, nodal metastases, histologic subtype, tumor cell morphology, architecture, tumor-associated stromal reaction, tumor interface to non-neoplastic thyroid (well circumscribed vs infiltrative), extrathyroidal extension, lymphovascular invasion, intratumoral multinucleated giant cells, and adjacent non-neoplastic thyroid pathology) were examined. 22918165 2013
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE In this study, the occurrence and percentage of the BRAF V600E mutated allele was not preferentially associated with the development of metastases and the average mutated allele percentage decreased as the tumor progresses from the primary site to the lymph node metastatic sites. 23533235 2013
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E gene mutation was documented in this lesion, and the patient received vemurafenib, with dramatic improvement noted on positron emission tomography scan after 2 months of treatment, soon followed by development of extensive metastases, including to brain. 23715079 2013
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE Extended BRAF testing using PCR for 9 mutations and VE1 immunohistochemistry for BRAF V600E detection on 95 lesions including 40 primary melanomas with their matched metastases (n = 42), recurrences (n = 9) and second primaries (n = 4) was performed.Nine patients had multiple metastases. 25236573 2014
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF(V600E) was characterized in 113 PTC patients diagnosed with pT1aNo-x (one PTC focus with a diameter <1 cm, without lymph node or distant metastases according to IUCC/AJCC TNM staging system 2010). 24354346 2014
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E-mutated lung adenocarcinoma with metastases to the brain responding to treatment with vemurafenib. 24888229 2014
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E was associated with advanced TNM (P < 0.001), more distant metastases (P = 0.025), and worse overall survival (OS, P < 0.001; multivariate HR = 4.2, P = 0.004) in colon cancer patients. 25367198 2014