Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE <b>Purpose:</b> Sixty percent of papillary thyroid cancers (PTC) have an oncogenic (V600E) BRAF mutation. 30065097

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE <i>BRAF</i>V600E (c.1799T>A) somatic mutation evaluation in fine needle aspiration biopsies (FNAB) is a powerful diagnostic tool in the settings of papillary thyroid cancer (PTC). 30374428

2018

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE 38.2% of human PTCs displayed high expression of AXL that positively correlated with RAI-refractoriness and disease persistence or recurrence, especially when combined with v-raf murine sarcoma viral oncogene homolog B(BRAF) V600E mutation. 31181609

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE 42 (37 PTC; 5 benign) surgical tissue samples were analysed for the BRAF V600E activating point mutation. 17298986

2007

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE 58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified. 15859312

2005

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE 80 (60.61%) of papillary thyroid carcinomas exhibited BRAF(V600E) mutation in a range of 7.7% to 46.3% of the total BRAF alleles. 25400776

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE 99 PTC and 11 nodular hyperplasia FFPE thyroid tissues are evaluated for the BRAF V600E mutation by the Idylla tests and compared with peptide nucleic acid-clamping PCR, real-time PCR and pyrosequencing. 27543599

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Papillary thyroid cancer subjects harboring RET/PTC rearrangements developed this cancer earlier than did cases with BRAF(V600E) mutation (P = 0.03). 18757433

2008

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

2010

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE PTC cases were also examined for their BRAF(V600E) mutational status. 21730105

2011

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE PTC, the most frequent thyroid carcinoma histotype, is associated with gene rearrangements that generate RET/PTC and TRK oncogenes and with BRAF-V600E and RAS gene mutations. 23132790

2013

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Compared with patients harboring neither mutation, HRs (95% CIs) for PTC-specific mortality were 3.08 (0.87-10.84) for BRAF V600E alone; 8.18 (2.04-32.75) with TERT mutation alone; and 37.77 (12.50-114.09) with both mutations. 27581851

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Papillary thyroid carcinoma samples with BRAF V600E mutation were shown to have higher glucose transporter 1, hexokinase II, carbonic anhydrase IX, and tumoral monocarbonylate transporter 4 expression levels. 28347233

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE PTC status, measures of aggressiveness (e.g. tumor size) and BRAF V600E mutation were included as outcomes. 28772138

2017

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE PTC with BRAF V600E mutation showed higher expression of ATX, LPA1, LPA2, and LPA3 than PTC without BRAF V600E mutation (p < 0.001). 31455351

2019

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE V600E BRAF mutation is emerging as an independent marker of papillary thyroid carcinoma aggressive behavior. 19693938

2010

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE V600E BRAF gene mutation was demonstrated in 19/43 malignant nodules, in 0/56 benign nodules and in only 1/54 indeterminate nodules that, after histology, turned out to be at a papillary thyroid carcinoma. 25194426

2014

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A high percentage of BRAF(V600E) alleles defines a PTC molecular subtype and predicts a poorer disease outcome. 22508706

2012

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A total of 47 intracerebral melanoma metastases and 21 primary papillary thyroid carcinomas were evaluated by direct sequencing of BRAF and by immunohistochemistry using the BRAF V600E mutation-specific antibody clone VE1. 21638088

2011

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE A valuable adjunct to FNA diagnosis of papillary thyroid carcinoma: in-house PCR assay for BRAF T1799A (V600E). 20607744

2011

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE According to the morpho-molecular analysis (i.e., traditional cytology combined with BRAF V600E analysis) 74/90 (82.2%) patients could be assigned a definitive diagnosis of PTC. 19534623

2009

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Activating BRAF(T1799A) mutation is closely associated with a papillary thyroid carcinoma (PTC) histotype. 17044028

2007

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Activating mutations in the valine-to-glutamic acid substitution at position 600 of the v-raf murine sarcoma viral oncogene homolog B1 (BRAF-1) gene are detected frequently in patients with papillary thyroid carcinoma (PTC). 23192956

2013

dbSNP: rs113488022
rs113488022
0.800 GeneticVariation BEFREE Activating mutations in the BRAF gene, primarily at V600E, are associated with poorer outcomes in patients with papillary thyroid cancer. 17878251

2007