Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We used a polymerase chain reaction-based assay to detect mutations in BRAF (V600E) and in KRAS in 2720 stage III cancer samples, collected prospectively from patients participating in an adjuvant chemotherapy trial (NCCTG N0147). 25305506

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We calculated and compared the diagnostic performances of cytology and cytology with BRAF(V600E) mutation analysis to detect malignancy among thyroid nodules according to ultrasound features and size. 23717622

2013

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In FNA biopsy samples (n=186), immunocytochemical expression of caveolin-1 and BRAF V600E mutation coincided with malignancy. 27818286

2017

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Evidence has also shown that the detection of the BRAF(V600E) mutation in cancer is crucial in order to identify novel avenues for thyroid cancer treatment.Based on the BRAF kinase structure, novel drugs can potentially be designed to target oncogenic BRAF in cancer therapeutics. 25961545

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In serrated adenomas, BRAF-V600E mutation does not seem to be associated with age and sex, with the prevalence of dysplasia and cancer and with the morphology of the dysplastic component. 30815911

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thus, regulation of AMPK activity may be potentially useful as a therapy for thyroid cancer if the cancer harbors a BRAF V600E mutation. 21795305

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here we show that Sleeping Beauty (SB) transposon-mediated mutagenesis drives melanoma progression in Braf(V600E) mutant mice and identify 1,232 recurrently mutated candidate cancer genes (CCGs) from 70 SB-driven melanomas. 25848750

2015

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Papillary thyroid cancer (PTC) is a common endocrine malignancy that frequently harbors the oncogenic T1799A BRAF mutation. 19883729

2010

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Furthermore, RAS function is not required for the growth of cancer cell lines with the V599E mutation. 12068308

2002

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) phosphorylates and activates the MEK1 and MEK2 kinases, which in turn phosphorylate and activate the ERK1 and ERK2 kinases, stimulating the mitogen-activated protein kinase (MAPK) pathway to promote cancer. 24717435

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy. 22313586

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E Gene Mutation Is Associated With Bilateral Malignancy of Papillary Thyroid Cancer. 30219154

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Two patients with treatment-refractory high-grade colorectal neuroendocrine tumors harboring BRAF(V600E) exhibited rapid and durable response to combined BRAF-MEK inhibition, providing the first clinical evidence of efficacy in this aggressive tumor type.Cancer Discov; 6(6); 594-600. 27048246

2016

dbSNP: rs113488022
rs113488022
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

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Regulation of mutant TERT by BRAF V600E/MAP kinase pathway through FOS/GABP in human cancer. 29422527

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Therefore, in cases of indeterminate FNA with unclassifiable atypical cells BRAF (V600E) mutated, the possibility of a localization of hystiocytosis or a secondary thyroid malignancy should be taken into account. 26782803

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The recognition of this functional trilogy provides insight on how BRAF(V600E) determines cancer initiation, progression, and invasiveness in PTC, also identifying new therapeutic targets for the treatment of highly aggressive forms. 21903858

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Unlike BRAF(V600E), the most common mutation, K601E is strongly associated with follicular-patterned cancer, particularly with the encapsulated follicular variant of PTC, and may also be found in follicular thyroid carcinomas. 26422023

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Reverse Phase Proteomic Array (RPPA, MD Anderson Cell Lines Project), RNAseq (Cancer Cell Line Encyclopedia) and vemurafenib sensitivity (Cancer Therapeutic Response Portal) data for BRAF-V600E cancer cell lines were curated. 31672130

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Our finding of tumor-specific patterns of NR expression, as well as significant differences in NR expression between BRAF(V600E) and wild type BRAF PTC, provides a basis for further mechanistic studies and highlights potential novel therapeutic targets for this malignancy. 24559275

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Although the presence of the BRAF V600E mutation is indicative of a sporadic cancer, up to 30% to 50% of colorectal carcinomas with MLH1 promoter hypermethylation will lack a BRAF mutation. 27438990

2016