rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Our finding of tumor-specific patterns of NR expression, as well as significant differences in NR expression between BRAF(V600E) and wild type BRAF PTC, provides a basis for further mechanistic studies and highlights potential novel therapeutic targets for this malignancy. 24559275 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The AUS-NA subcategory was associated with the highest risk of malignancy and the greatest frequency of BRAF V600E (substitution of valine to glutamic acid at position 600) mutation. 24619974 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Hence, this IHC detection is sensitive for clinic uses as a simple, fast, inexpensive, and reliable method to screen cancer patients for the BRAF(V600E) mutation and could be easily adapted for use in most hospital pathology laboratories. 24563339 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Morphological parameters able to predict BRAF(V600E) -mutated malignancies on thyroid fine-needle aspiration cytology: Our institutional experience. 25156883 2014
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The therapeutic significance of this inhibition in cancer cells was shown while unraveling a novel mechanism of resistance to B-RAF(V600E/K) inhibitors. 23651636 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE We calculated and compared the diagnostic performances of cytology and cytology with BRAF(V600E) mutation analysis to detect malignancy among thyroid nodules according to ultrasound features and size. 23717622 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Right-sided colon tumors more frequently have BRAF (p.V600E) mutations and have higher methylation grades when compared to left-sided malignancies. 24244575 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, we observed ubiquitous phospho-ERK expression in this malignancy. 23349307 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The BRAF V600E mutation was associated with an advanced stage of cancer (P = .045) and was found to be associated with poor prognostic factors. 23690118 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Expression analysis of B-Raf oncogene in V600E-negative benign and malignant tumors of the thyroid gland: correlation with late disease onset. 23263826 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Approximately 75% of the cases were cytologically diagnosed as being positive for malignancy and these cases were associated with both the classic and tall cell variants of PTC at the time of resection, a greater likelihood of extrathyroidal extension, and the V600E type of BRAF mutation. 22887810 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE These data suggest additive, combinatorial activity between radiation and PLX4720 in cancers carrying BRAF V600E mutations. 23354848 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The BRAF(V600E) mutation was identified in 13 patients (4%), 12 of whom had either cytologic atypia or were Bethesda category V. Three percent of Bethesda category III or IV nodules that were malignant harbored the mutation compared with 42% of Bethesda category V malignancies. 23280049 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE BRAF V600E is an emerging drug target in lung cancer, but the clinical significance of non-V600 BRAF mutations in lung cancer and other malignancies is less clear. 24035431 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE BRAF-V600E mutations are found in a broad spectrum of cancer types and can be successfully targeted by specific therapeutic compounds. 23343956 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The usefulness of immunohistochemistry (IHC) as a new approach for the detection of BRAF V600E in cancer patients has been recently reported. 23927882 2013
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy. 22313586 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE Recent developments in v-raf murine sarcoma viral oncogene homolog B1 (BRAF)(V600E)-specific small molecule inhibitors and their clinical approval for other cancer types could turn BRAF(V600E) into a promising molecular predictor of outcome in pilocytic astrocytomas, given a treatment with a mutation-specific BRAF inhibitor is applied. 23160425 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE In conclusion, we show that SkE, a very potent inhibitor of B-Raf-V600E, is highly effective against cancer cell lines that exhibit constitutive activation of the ERK1/2 pathway. 23518796 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The aims of this study were to evaluate the utility of US-guided FNAB in the diagnostic assessment of nodules with or without clinical/US features suggestive for malignancy and to investigate the additional contribution of BRAF V600E mutation analysis in the detection of differentiated thyroid cancer. 22535974 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE The BRAF inhibitor vemurafenib has become an important treatment option for melanoma patients, the majority of whom have a BRAF(V600E) mutation driving their malignancy. 23074264 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE These data demonstrate that clonal BRAF(V600E) is a rare occurrence in PTC, although frequently this cancer consists of a mixture of tumor cells with wild-type and mutant BRAF. 22170714 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.100 GeneticVariation BEFREE A set of 668 stage II and III CC samples from the PETACC-3 (Pan-European Trails in Alimentary Tract Cancers) clinical trial were used to assess differential gene expression between c.1799T>A (p.V600E) BRAF mutant and non-BRAF, non-KRAS mutant cancers (double wild type) and to construct a gene expression-based classifier for detecting BRAF mutant samples with high sensitivity. 22393095 2012
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
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