rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Overall, BRAF(V600E) PTC tumors display a broadly immunosuppressive profile and evidence of disturbed host tumor immune surveillance that may contribute to the poorer outcomes observed in this subset of patients with thyroid cancer. 24955518 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Orthotopic mouse models for the preclinical and translational study of targeted therapies against metastatic human thyroid carcinoma with BRAF(V600E) or wild-type BRAF. 24362526 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF V600E mutation is the most common genetic alteration in thyroid cancer. 25266729 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE PCCl3 rat thyroid cells, PCCl3 cells overexpressing BRAF(V600E), or primary cultured tumor cells from a thyroid cancer mouse model, under TSH stimulation were treated with various reagents for 24 hours. 24400871 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Epigenetic silencing of TSHR gene in thyroid cancer patients in relation to their BRAF V600E mutation status. 24927793 2014
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE According to our experimental results, the panel including cf-DNA, SLC5A8 and SLC26A4 hypermethylation, and BRAF(V600E) analysis appears easy, reproducible, and non-invasive for the diagnosis on TC. 23931930 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE These results reveal a novel (V600E)BRAF-induced mechanism in thyroid tumours progression and provides a rationale for using the PLX4720 inhibitor to target (V600E)BRAF signalling to effectively control progression of thyroid cancer. 23435375 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The results of this study allow us to conclude that low expression of MLH1 is associated with BRAF V600E mutations, RET/PTC rearrangements and transitions (IDH1 and NRAS) in patients with thyroid carcinoma. 23414134 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Second, homogeneous staining occurs in the vast majority of cases, demonstrating that the BRAF(T1799A) mutation is a clonal event in thyroid cancer. 23775351 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 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
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE When BRAF(V600E)-positive thyroid cancer cells were incubated with the specific BRAF inhibitor PLX4032, sensitivity to gefitinib was restored. 23559083 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation can be detected peripherally in the serum of patients with thyroid cancer. 23161556 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Epidermal growth factor receptor (EGFR) overexpression (EGFR-H) is implicated in thyroid carcinoma disease progression; however, the clinicopathologic significance of EGFR-H in tumors that harbor EGFR and/or v-Raf murine sarcoma viral oncogene homolog B1 (BRAF)(V600E) mutations is unknown. 23746767 2013
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Moreover, our results suggest that the mTOR pathway could be a good target to enhance therapy effects in certain types of thyroid carcinoma, namely in those harboring the BRAF(V600E) mutation. 22549934 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE This study tests the prevalence of BRAF (V600E) mutation in thyroid cancer patients in Indian subcontinental population. 22105775 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The diagnostic sensitivity for thyroid cancer is significantly increased by BRAF V600E mutation analysis, indicating that the screening for BRAF mutation in FNAB samples has a relevant diagnostic potential. 22535974 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF V600E protein was expressed in BM of 42/76 (55.3%) melanomas, 1/15 (6.7%) ovarian cancers, 4/72 (5.5%) colorectal cancers, 1/355 (0.3%) lung cancers, 2/6 thyroid cancers and 1/2 choriocarcinomas. 22012135 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE It is evident that the detection of the BRAF V600E mutation is crucial in order to identify novel avenues for thyroid cancer treatment. 22858857 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(T1799A) mutation is the most prevalent genetic alteration in thyroid cancers and is specific for PTC, characteristics that make it the most potentially helpful genetic tool to improve the diagnostic accuracy of FNAB. 22504197 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE From September 2008 to December 2009, we performed routine analysis of the BRAF(V600E) mutation using thyroid cancer tissue from 424 patients who underwent thyroidectomy with cervical lymph node dissection. 21803329 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Notch functions as an oncogene or tumor suppressor according to the type of malignancy, and the BRAF(V600E) mutation is commonly observed in thyroid cancer. 22118425 2012
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The inability of MEK and RAF inhibitors, U0126 and sorafenib, respectively, to block the mitochondrial localization of BRAF(V600E) has additional therapeutic implications for BRAF(V600E)-positive thyroid cancers. 20926530 2011
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Thus, regulation of AMPK activity may be potentially useful as a therapy for th</span>yroid cancer</span> if the cancer harbors a BRAF V600E mutation. 21795305 2011
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Thus, this study has confirmed that the BRAF(T1799A) mutation confers cancer cells sensitivity to PLX4032 and demonstrated its specific potential as an effective and BRAF(T1799A) mutation-selective therapeutic agent for thyroid cancer. 21185263 2011
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Here, we have shown that PLX4720 preferentially inhibits migration and invasion of B-Raf(V600E) thyroid cancer cells and tumor aggressiveness. 21355020 2011