Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Here, we use mice carrying a conditional allele of PIK3CA to demonstrate that, although mutationally activated PIK3CA(H1047R) is unable to drive transformation on its own, when combined with BRAF(V600E) in thyrocytes, this leads to development of lethal ATC in mice. 24770869

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE CD70 expression was associated with the presence of a precursor papillary thyroid carcinoma and the presence of BRAF V600E mutations in the anaplastic thyroid cancer lesion. 28383817

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We report 2 cases of BRAF(V600E)-positive ATC treated with a BRAF inhibitor. 26957611

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Additionally, preclinical and clinical studies investigating combination therapy with agents such as selective (PLX 4032) and potent (BAY 73-4506 and ARQ 736) small-molecule BRAF inhibitors and MAP/extracellular signal-regulated kinase (ERK) kinase inhibitors (AZD6244) hold great promise in the treatment of BRAF(V600E) cancers and may eventually play a powerful role in changing the clinical course of PTC and ATC. 21900390

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) is present in approximately 50% of PTC and also found in aggressive histologic variants and PTC-derived anaplastic thyroid cancer, but is rare in follicular variants, and not found in follicular thyroid cancer. 20230995

2010

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The (V600E) BRAF mutation was observed in three ATCs; the results about the inhibition of proliferation by CLM29 and CLM24, obtained in ATC from tumors with (V600E) BRAF mutation were similar to those from tumors without BRAF mutation. 26286966

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The (V600E)BRAF mutation was observed in two ATC patients; the inhibition of proliferation by drugs was similar in tumors with or without (V600E)BRAF mutation. 18583391

2008

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This is the largest study on the aggressive role of TERT promoter mutations in ATC, demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC. 25584719

2015

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Our results suggest that angiogenic/cachectic and pro-inflammatory/immune response factors could play a crucial role in BRAF(V600E)-positive human ATC aggressiveness. 26189429

2016