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 In Korea, where PTC comprises about 90-95% of the reported thyroid cancers, the prevalence of BRAF(V600E) mutation in papillary thyroid carcinoma (PTC) is above 80%. 21239517 2011
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) and microenvironment in thyroid cancer: a functional link to drive cancer progression. 21447745 2011
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE In this article, we review the pathogenesis of PTC, and the clinical implications of BRAF(V600E) mutation in the diagnosis, prognosis and potential targeted therapeutic strategies for thyroid cancers. 20230995 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE We examined the activity of PLX4032 and PLX4720 in thyroid carcinoma cell lines harboring BRAF V600E (8505C, BCPAP, SW1736, BHT101), NRAS Q61R (HTH7), KRAS G12R (CAL62), HRAS G13R (C643), or RET/PTC1 (TPC-1) oncogenes. 19880792 2010
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE We developed an allele-specific real-time PCR method for the detection of BRAF(T1799A) in blood samples and studied prospectively blood samples from 193 patients with thyroid cancer (173 PTC, 20 non-PTC) attending for routine follow-up. 19850689 2009
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF((V600E)) mutation is the most frequent genetic alteration in papillary thyroid carcinomas (PTCs) that are 80-90% of all thyroid cancers. 18310287 2008
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE BRAF(V600E) mutation, in both primary and metastatic thyroid cancers, is associated with a marked drop in thyroperoxidase (29-fold) and pendrin (20-fold) expression and a considerable increase (five-fold) in GLUT-1 expression. 17854396 2008
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Enhanced B-Raf protein expression is independent of V600E mutant status in thyroid carcinomas. 17714762 2007
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE Clinicopathologic features and BRAF(V600E) mutation analysis in cutaneous metastases from well-differentiated thyroid carcinomas. 17387744 2007
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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 carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was present in 93 (83%) of 112 thyroid cancers. 17054470 2006
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE In conclusion, the present study on the first Italian series of thyroid cancers shows a frequency of 38.3% of BRAF(V599E) in the classical variant of PTC, confirming the key role of this mutation in promoting tumourigenesis. 15272920 2004
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
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