rs113488022, BRAF

N. diseases: 490
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 CausalMutation CLINVAR
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 CausalMutation CLINVAR
Cardio-facio-cutaneous syndrome
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
0.710 CausalMutation CLINVAR
ASTROCYTOMA, LOW-GRADE, SOMATIC
CUI: C2674727
Disease: ASTROCYTOMA, LOW-GRADE, SOMATIC
0.700 CausalMutation CLINVAR
Nongerminomatous Germ Cell Tumor
CUI: C1266158
Disease: Nongerminomatous Germ Cell Tumor
0.700 CausalMutation CLINVAR
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
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
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
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
0.800 GeneticVariation BEFREE <b>Purpose:</b> Sixty percent of papillary thyroid cancers (PTC) have an oncogenic (V600E) BRAF mutation. 30065097 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.900 GeneticVariation BEFREE <i>BRAF</i> (v-raf murine sarcoma viral oncogene homolog B1) V600E mutant colorectal cancer is associated with short survival. 30719102 2019
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
0.900 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
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.800 GeneticVariation BEFREE <i>BRAF</i>V600E (c.1799T>A) somatic mutation evaluation in fine needle aspiration biopsies (FNAB) is a powerful diagnostic tool in the settings of papillary thyroid cancer (PTC). 30374428 2018
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
0.800 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