Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Overall, our results suggest that DETD-35 may be useful as a therapeutic or adjuvant agent against BRAF(V600E) mutant and acquired vemurafenib resistance melanoma.Mol Cancer Ther; 15(6); 1163-76.©2016 AACR. 27048951 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE We previously repositioned the drug as the inhibitor of B-Raf V600E, but its anti-tumor effect in human cancer has never been reported. 30583070 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Using patient-derived (V600E)BRAF melanoma cells, we found that low-glutamine-induced histone hypermethylation resulted in cancer cell dedifferentiation and resistance to BRAF inhibitor treatment, which was largely mediated by methylation on H3K27, as knockdown of the H3K27-specific demethylase KDM6B and the methyltransferase EZH2 respectively reproduced and attenuated the low-glutamine effects in vitro and in vivo. 27617932 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Recently, increasing evidences indicate that BRAF((V600E)) mutation is a specific molecular feature and driver of the serrated pathway, and proximal serrated polyps with BRAF((V600E)) mutation have a high risk of progression to malignancy. 25550768 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The increased incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis. 20570909 2010
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Recent developments in v-raf murine sarcoma viral oncogene homolog B1 (BRAF)(V600E)-specific small molecule inhibitors and their clinical approval for other cancer types could turn BRAF(V600E) into a promising molecular predictor of outcome in pilocytic astrocytomas, given a treatment with a mutation-specific BRAF inhibitor is applied. 23160425 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE One (1.6%) cancer tissue sample showed a point mutation in the BRAF gene (GTG --> GAG; V599E). 15616773 2004
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE To evaluate the association of BRAF(V600E) mutation with US features of thyroid nodules in predicting the malignancy of thyroid nodules in Korean patients. 21707687 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE None of the 504 benign, 45 (31.9%) of the 141 ACUS, 46 (85.2%) of the 54 suspicious for malignancy, 129 (92.1%) of the 140 malignant, and one (10%) of the 10 suspicious for follicular neoplasm cases showed BRAF(V600E) mutation. 21239517 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE These data demonstrate that clonal BRAF(V600E) is a rare occurrence in PTC, although frequently this cancer consists of a mixture of tumor cells with wild-type and mutant BRAF. 22170714 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The presence of the noninheritable V600E BRAF mutation in this family supports Knudson's "double-hit" hypothesis for cancer development and suggests the involvement of more than 1 gene in the clinical expression of FNMTC. 29895015 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Detection of BRAF(V600E) mutation had limited value in diagnoses of malignancy in follicular neoplasms but can ascertain malignancy in subset of suspicious for malignancy FNABs. 21948220 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE This study sought to determine if cytologic markers of malignancy are associated with the BRAF(V600E) mutation and if preoperative BRAF(V600E) testing would alter the initial management of patients with indeterminate nodules. 23280049 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The BRAF gene has been identified as an oncogene in human cancer and the V600E mutation has been shown to be associated with clinico pathological features of primary invasive melanomas. 21262211 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE For the 37 cases cytologists favored to be cPTC, 31 (84%) had a molecular result that supported malignancy (28 BRAF V600E mutations, 2 NTRK1 fusions, 1 AGK-BRAF fusion). 29396809 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Interesting, Prof. Peng Hou and colleagues, at the First Affiliated Hospital of Xi'an Jiaotong University in China, identified unknown epigenetic mechanisms and their involvement in the tumorigenesis of B-RAF(V600E)-driven cancer. 28638488 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Braf(V600E)-driven tumors require autophagy and likely autophagy-provided substrates to maintain mitochondrial metabolism and to promote tumor growth, suggesting that autophagy ablation may improve cancer therapy. 24860158 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE Furthermore, when we introduce the equivalent of the most common cancer mutation in B-RAF (V600E) into C-RAF, it only has a weak effect on kinase activity and does not convert C-RAF into an oncogene. 16266992 2005
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The frequency of malignancy and the BRAF(V600E) mutation were compared between suspicious and probably benign nodules on US and between groups 1 and 2. 20945104 2011
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The AUS-NA subcategory was associated with the highest risk of malignancy and the greatest frequency of BRAF V600E (substitution of valine to glutamic acid at position 600) mutation. 24619974 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE BRAF(V600E)-mutated DNA was quantified in plasma samples and in cancer sections by quantitative real-time polymerase chain reaction (qPCR). 24858900 2014
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The BRAF (V600E) mutation is found in several human cancer, causing an increase of cell proliferation due to a modification of the ERK/MAPK-signal cascade. 31762942 2019
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE The usefulness of immunohistochemistry (IHC) as a new approach for the detection of BRAF V600E in cancer patients has been recently reported. 23927882 2013
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE BRAF V600E Gene Mutation Is Associated With Bilateral Malignancy of Papillary Thyroid Cancer. 30219154 2018
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.100 GeneticVariation BEFREE These findings indicate that adenomas might be less important in the cancer development in the group of families with BRAF-V600E mutations and indirectly support a previous hypothesis that tumors might develop through the hyperplastic polyp-serrated adenoma pathway. 17119056 2006