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 We report a 65-year-old woman with anaplastic thyroid carcinoma (BRAF V600E mutation) who had lymph node metastases (pT4 N1b) treated by total thyroidectomy, postoperative radiotherapy, adjuvant chemotherapy (paclitaxel and pazopanib) and targeted therapy (vemurafenib). 26347145

2016

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 We report 2 cases of BRAF(V600E)-positive ATC treated with a BRAF inhibitor. 26957611

2016

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

dbSNP: rs113488022
rs113488022
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.100 GeneticVariation BEFREE We characterized and utilized mouse cell lines derived from PTC and ATC tumors arising in genetically engineered mice with thyroid-specific expression of endogenous Braf(V600E/WT) and deletion of either Trp53 (p53) or Pten. 24295207

2014

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 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 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 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 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 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
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 The combinatorial treatment of PLX4032 and PHA665752, a c-Met inhibitor reversed EMT.Similar results were confirmed in vivo. c-Met-mediated reactivation of the PI3K/AKT pathway contributes to the drug resistance to PLX4032 in BRAF (V600E) mutant anaplastic thyroid cancer cells and further promotes tumor cell migration and invasion by upregulated EMT mechanism. 27880942

2017

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 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 Three of the lines carried a heterozygous BRAF mutation V600E, which is in line with reports of BRAF mutations in primary ATC and papillary thyroid cancer. 17465858

2007

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 We used a Cre-regulated Braf(V600E) mouse and a conditional Trp53 allelic series to demonstrate that p53 constrains progression from PTC to ATC. 24711431

2014

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 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 Three ATCs harbored the common BRAF mutation V600E. 18753363

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 We used RNA interference to evaluate the effect of BRAF knockdown in the human anaplastic thyroid carcinoma cell lines FRO and ARO carrying the BRAF V600E (V600EBRAF) mutation. 16533790

2006

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