rs121913377, BRAF

N. diseases: 480
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 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 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 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 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 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 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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation was identified in 1% of patients only. p53 protein was lowly expressed in TGCT metastases compared to the matched primary tumors. 27085458 2016
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation and BRAF kinase inhibitors in conjunction with stereotactic radiosurgery for intracranial melanoma metastases. 27203149 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutations were commonly identified in right-sided tumors and showed a high incidence of peritoneal and distant lymph nodes metastases. 29037218 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation testing of colorectal tumors demonstrating aberrant MLH1 protein expression by IHC was the most common secondary tumor test, with 53% of laboratories performing the test; 15% of laboratories also applied the BRAF V600E test to endometrial tumors with aberrant MLH1 expression despite no evidence for its utility. 30294856 2018
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 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 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 Clinically, patients with V600K tumors experience distant metastases sooner and have an increased risk of relapse and shorter survival than patients with V600E tumors. 28858076 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE Concordance in BRAF V600E status over time in malignant melanoma and corresponding metastases. 29119584 2018
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 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 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 In the context of metastatic PTC with SCC dedifferentiation, the presence of the identical BRAF (V600E) (c.1799 T > A) mutation in both components might help rule out tumor to tumor metastasis. 26521063 2016
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 Interestingly, by droplet digital PCR, the V600E mutation was also detected in the first primary, and the V600K in the second primary and metastases. 30222690 2019
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE Mutant allele-specific imbalance of the p.V600E mutation was predominantly present in specimens with distant organ metastases (79% versus 27% in LN metastases versus 13% in primary cutaneous tumors or adjacent soft tissue, P < .001). p.V600K was detected in 23% of men older than 60 years old, compared with 6% in women older than 60 years old and 2% in both men and women younger than 60 years old (P < .001). 25456393 2015