rs121913377, BRAF

N. diseases: 480
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE <b>:</b> The introduction of v-raf murine sarcoma viral oncogene homolog B (BRAF) inhibitors in melanoma patients with BRAF (V600E) mutations has demonstrated significant clinical benefits. 31416288 2019
Head and Neck Carcinoma
CUI: C3887461
Disease: Head and Neck Carcinoma
0.010 GeneticVariation BEFREE <b>Conclusions:</b> The complete response observed here illustrate the role of molecular profiling in complicate clinical situation of rare head and neck cancer and the potential benefit of BRAF-targeted therapy in ameloblastoma carrying <i>BRAF</i> V600E mutation. 31781502 2019
Malignant Head and Neck Neoplasm
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
0.010 GeneticVariation BEFREE <b>Conclusions:</b> The complete response observed here illustrate the role of molecular profiling in complicate clinical situation of rare head and neck cancer and the potential benefit of BRAF-targeted therapy in ameloblastoma carrying <i>BRAF</i> V600E mutation. 31781502 2019
Ameloblastoma
CUI: C0002448
Disease: Ameloblastoma
0.100 GeneticVariation BEFREE <b>Conclusions:</b> The complete response observed here illustrate the role of molecular profiling in complicate clinical situation of rare head and neck cancer and the potential benefit of BRAF-targeted therapy in ameloblastoma carrying <i>BRAF</i> V600E mutation. 31781502 2019
Secondary malignant neoplasm of lymph node
0.100 GeneticVariation BEFREE <b>Objective:</b> The COMBI-AD trial demonstrated the efficacy and safety of dabrafenib and trametinib in combination vs placebo as adjuvant treatment of patients with BRAF V600E/K mutation-positive resected Stage IIIA (lymph node metastasis >1 mm), IIIB, or IIIC melanoma. 31223037 2019
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE <b>Purpose:</b> Sixty percent of papillary thyroid cancers (PTC) have an oncogenic (V600E) BRAF mutation. 30065097 2018
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE <i>BRAF</i> (v-raf murine sarcoma viral oncogene homolog B1) V600E mutant colorectal cancer is associated with short survival. 30719102 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE <i>BRAF</i> (v-raf murine sarcoma viral oncogene homolog B1) V600E mutant colorectal cancer is associated with short survival. 30719102 2019
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E colorectal cancers are insensitive to RAF inhibitor monotherapy due to feedback reactivation of receptor tyrosine kinase signaling. 28951457 2017
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876 2018
Malignant neoplasm of thyroid
CUI: C0007115
Disease: Malignant neoplasm of thyroid
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876 2018
Thyroid carcinoma
CUI: C0549473
Disease: Thyroid carcinoma
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876 2018
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.100 GeneticVariation BEFREE <i>BRAF</i> V600E mutations have been successfully treated with targeted therapy in melanoma, non-small cell lung cancer, and thyroid cancer. 29295876 2018
Monomorphic Epitheliotropic Intestinal T-Cell Lymphoma
0.010 GeneticVariation BEFREE <i>BRAF</i> V600E-positive monomorphic epitheliotropic intestinal T-cell lymphoma complicating the course of hairy cell leukemia. 31354304 2019
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE (2018) report that chondroitin-4-sulfate, which is found in a common supplement meant to alleviate degenerative joint disorders, promotes the growth of BRAF V600E mutant melanoma. 29547718 2018
Follicular neoplasm
CUI: C0474808
Disease: Follicular neoplasm
0.030 GeneticVariation BEFREE - The morphologic similarity and RAS mutations in FAs, NIFTPs, and IE-PTC-FVs supports the genetic similarity of those follicular neoplasms in contrast to the unique presence of BRAF V600E mutations in PTC-EFGs. 29582677 2018
melanoma
CUI: C0025202
Disease: melanoma
0.800 GeneticVariation BEFREE 21 (78%, 57·7-91·4) of 27 patients with Val600Glu BRAF-mutant melanoma responded and 15 (56%, 35·3-74·5) had a confirmed response. 22608338 2012
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE 3'-Deoxy-3'-18F-fluorothymidine PET predicts response to (V600E)BRAF-targeted therapy in preclinical models of colorectal cancer. 23341544 2013
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE 38.2% of human PTCs displayed high expression of AXL that positively correlated with RAI-refractoriness and disease persistence or recurrence, especially when combined with v-raf murine sarcoma viral oncogene homolog B(BRAF) V600E mutation. 31181609 2019
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE 42 (37 PTC; 5 benign) surgical tissue samples were analysed for the BRAF V600E activating point mutation. 17298986 2007
Adenocarcinoma of colon
CUI: C0338106
Disease: Adenocarcinoma of colon
0.030 GeneticVariation BEFREE 51 cases of primary colon adenocarcinoma were stained with BRAF V600E-specific clone VE1 antibody against mutated BRAF protein. 27569082 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE 58% PTCs presented a genetic alteration either RET/PTC rearrangement, BRAF V599E mutation or both: three cases of PTCs (25%) presented a RET/PTC rearrangement; three cases of PTCs (25%) presented a BRAF V599E mutation and in one case (8%) both alterations were identified. 15859312 2005
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE 80 (60.61%) of papillary thyroid carcinomas exhibited BRAF(V600E) mutation in a range of 7.7% to 46.3% of the total BRAF alleles. 25400776 2014
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.100 GeneticVariation BEFREE 99 PTC and 11 nodular hyperplasia FFPE thyroid tissues are evaluated for the BRAF V600E mutation by the Idylla tests and compared with peptide nucleic acid-clamping PCR, real-time PCR and pyrosequencing. 27543599 2017
Follicular thyroid carcinoma
CUI: C0206682
Disease: Follicular thyroid carcinoma
0.060 GeneticVariation BEFREE : The prevalence of BRAF V600E mutation was higher in conventional papillary thyroid cancer (51.0%) than in follicular variant of papillary thyroid cancer (24.1%) and follicular thyroid cancer (1.4%) (P < 0.0001). 17717450 2007