rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE A missense mutation was found at T1796A (V599E) in exon 15 in four of the six cell lines and 51 of 207 thyroid tumors (24.6%; 0 of 20 follicular adenoma, 0 of 11 follicular carcinoma, 49 of 170 papillary carcinomas, and 2 of 6 undifferentiated carcinomas). 12970315 2003
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE These data clearly confirm that BRAF(V599E) is the more common genetic alteration found to date in adult sporadic PTCs, that it is unique for this thyroid cancer histotype, and that it might drive the development of PTCs of the classic papillary subtype. 15126572 2004
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was detected in tumour samples from 31 of 60 conventional micro-PTC patients (52%), but was not detected in patients with other types of thyroid tumours. 16268813 2005
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF provides signals crucial for proliferation of thyroid carcinoma cells spontaneously harboring the (V600E)BRAF mutation and, therefore, BRAF suppression might have therapeutic potential in (V600E)BRAF-positive thyroid cancer. 16533790 2006
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE In Korea, most thyroid cancer is the classic papillary type and the BRAF(V600E) mutation is highly prevalent. 17054470 2006
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE They also potently blocked MEK phosphorylation in human thyroid cancer cell lines with either RET/PTC1 (TPC1) or BRAF(V600E) (NPA, ARO, and FRO) mutations. 16551863 2006
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF V600E mutation status was determined in 347 tumor samples from 314 patients with thyroid cancer (245 with conventional papillary thyroid cancer, 73 with follicular thyroid cancer, and 29 with the follicular variant of papillary thyroid cancer). 17717450 2007
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Small molecule inhibitors that selectively target B-Raf(V600E) may provide clinical benefit for patients with thyroid cancer. 17363500 2007
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE After treatment with the potent MEK 1/2 inhibitor AZD6244, MEK inhibition and cell growth were examined in four BRAF mutant (V600E) and two BRAF wild-type thyroid cancer cell lines and in xenografts from a BRAF mutant cell line. 17878251 2007
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Dideoxy sequencing is the most commonly used method for detecting the BRAF(V600E) mutation in thyroid cancer and melanoma. 18462259 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE In many cancers, including thyroid cancer, B-Raf(V600E) appears to play a crucial role in cell proliferation, survival and de-differentiation. 19356676 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Our results in thyroid cancer cells, namely those harbouring BRAF(V600E) mutation showed that BRAF signalling pathway provides important proliferation signals. 19878585 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Testing of a patient's thyroid cancer for B-Raf(V600E) will yield important information about potential tumor aggressiveness and also allow for future use of targeted therapies with selective B-Raf(V600E) inhibitors, such as PLX4720. 20498063 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE While BRAF(V600E) is a highly specific marker of thyroid cancer, RET rearrangements have been disclosed also in non malignant thyroid lesions and their biological significance is debated. 21048359 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE A literature search using PubMed identified all the pertinent literature on the identification and utilization of the B-Raf(V600E) mutation in thyroid cancer. 20637346 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE This study investigated the therapeutic potential of a BRAF(V600E)-selective inhibitor, PLX4032 (RG7204), for thyroid cancer by examining its effects on the MAP kinase signaling and proliferation of 10 thyroid cancer cell lines with wild-type BRAF or BRAF(T1799A) mutation. 21185263 2011
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Mice with BRAF(V600E)-induced PTC will provide an excellent system to study thyroid tumor initiation and progression and the evaluation of inhibitors of oncogenic BRAF signaling. 21512141 2011
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE BRAF(V600E) and microenvironment in thyroid cancer: a functional link to drive cancer progression. 21447745 2011
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Polymerase chain reaction was used to amplify exon 15 of the BRAF gene from paraffin-embedded thyroid tumor specimens, followed by direct sequencing to detect the BRAF(V600E) mutation. 22190222 2012
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
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 Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE Identification of BRAF(V600E) in thyroid neoplasia may be useful because it is specific for malignancy, connotes a worse prognosis, and is the target of novel therapies currently under investigation. 22997209 2012