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 We successfully treated a BRAF V600E-mutated anaplastic oligoastrocytoma with multiple extraneural metastases with vemurafenib and everolimus. 30462564 2019
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.100 GeneticVariation BEFREE One case in a 6-year-old male was morphologically similar to the BRAF V600E mutation-positive adult cases and subsequently metastasized to the lungs; remarkably, the metastases then completely resolved on Braf targeted therapy. 31192863 2019
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 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 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 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 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 Overall median survival time (MST), stratified for variables, including BRAF V600E mutation and eligibility for treatments with new immunotherapy drugs, was retrospectively assessed in 41 patients with pelvic melanoma loco regional metastases. 29120401 2017
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 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
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 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 Therefore, we established a large collection of patient-derived xenografts (PDXs), derived from BRAF(V600E), NRAS(Q61), or BRAF(WT)/NRAS(WT) melanoma metastases prior to treatment with BRAF inhibitor and after resistance had occurred. 27320919 2016
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
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
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) 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 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 The utility of immunohistochemistry (IHC) as an alternative approach for detection of BRAF(V600E) in the thoracic metastases of sporadic mCRC patients has not been evaluated until now. 24798160 2014
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 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