Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutation in anaplastic thyroid carcinomas and their accompanying differentiated carcinomas. 17453004

2007

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E and RAS mutations were mutually exclusive; all ATC cell lines exhibited a combination of mutations in either BRAF and TP53 or NRAS and TP53. 25576899

2015

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E mutation was the most common mutation, which is present in almost all HVPTC samples (16/17, 94%), most CPTC samples (20/26, 77%), and none of the ATC and PDTC samples. 28423545

2017

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutation was detected in 20 of 43 PTCs and all three anaplastic thyroid carcinomas (ATCs). 19156774

2009

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutations were identified in 22.2% of the carcinoma cases (n = 18, 15 PTCs and 3 anaplastic thyroid carcinomas). 23746767

2013

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Combined BRAF(V600E)- and SRC-inhibition induces apoptosis, evokes an immune response and reduces tumor growth in an immunocompetent orthotopic mouse model of anaplastic thyroid cancer. 24994118

2014

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Conclusion Dabrafenib plus trametinib is the first regimen demonstrated to have robust clinical activity in BRAF V600E-mutated anaplastic thyroid cancer and was well tolerated. 29072975

2018

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE DTC was present in half of the cases.BRAF V600E mutation was identified in nine of 36 (25%) ATCs; seven cases had identical mutations in both the ATC and DTC components. 17989125

2008

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Expression of miR-126 was down-regulated in BRAF(V600E) mutated undifferentiated thyroid carcinoma. 26384552

2015

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE First, absent/faint staining for BRAF V600E correlates perfectly with the lack of the BRAF(T1799A) mutation, whereas strong staining is highly specific for the BRAF(T1799A) mutation in PTCs, PDTCs, and ATCs. 23775351

2013

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Further, type I collagen enhanced the motility of Braf(V600E)/Pten(-/-)/TPO-Cre tumor cells in vitro In clinical specimens, we found COL1A1 and LOX to be upregulated in PTC and expressed at highest levels in PDTC and anaplastic thyroid cancer. 26818109

2016

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Genomic Alterations of Anaplastic Thyroid Carcinoma Detected by Targeted Massive Parallel Sequencing in a BRAF(V600E) Mutation-Prevalent Area. 26980298

2016

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Here, we outlined the common pathways that are altered in ATC, including the BRAF(V600E)/ERK1/2-MEK1/2 and PI3K-AKT pathways. 25347569

2015

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE In ATC that carries a BRAF V600E somatic mutation, combination therapy with BRAF and MEK inhibitors has shown promise but needs further study. 30717908

2019

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE In papillary thyroid cancer (PTC) and papillary-derived anaplastic thyroid cancer (ATC), the BRAF(V600E) mutation promotes follicular cell transformation. 25961545

2015

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE In the setting of BRAF V600E mutated ATC, dabrafenib/trametinib combination therapy and vemurafenib monotherapy have both demonstrated efficacy. 31277524

2019

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE PLX4720 therapy should be tested and considered for a phase I study for the treatment of patients with B-Raf(V600E) ATC. 21355020

2011

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE Similar results were confirmed by in vivo study with orthotopic xenograft mouse model. c-Met-mediated reactivation of the PI3K/AKT pathway and MAPK pathway contributes to the relative insensitivity of BRAF (V600E) mutant anaplastic thyroid cancer cells to PLX4032. 26456083

2016

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
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