Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.900 GeneticVariation BEFREE Current clinical guidelines recommend mutation analysis for select codons in KRAS and NRAS exons 2, 3, and 4 and BRAF V600E to guide therapy selection and prognostic stratification in advanced colorectal cancer. 31589789

2020

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. 31667545

2020

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE Half of the tumors in our patient cohort were V600-wildtype and half were V600E mutant.All tumors expressed PD-L1. 31819973

2020

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE While under normoxic conditions the expression of glycolysis-related genes showed no correlation with origin or BRAF mutation status, GLUT1 expression was significantly elevated in metastatic and BRAF-V600E mutated melanoma cell lines under hypoxic conditions. 31791701

2020

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs113488022
rs113488022
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.800 GeneticVariation BEFREE We then knocked a mutation into BRAF encoding the V600E substitution and overexpressed the GREM1 transgene; the organoids were transplanted into colons of NOG mice and growth of xenograft tumors was measured. 31622618

2020

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE A 39-year-old white male was treated with vemurafenib, cobimetinib, and atezolizumab for a stage IV (T0, N3, M1) BRAF-V600E mutated malignant melanoma in the context of a clinical trial. 31157737

2020

dbSNP: rs113488022
rs113488022
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma
0.800 GeneticVariation BEFREE The p.V600E mutation in the BRAF protein is the most frequent mutation in cutaneous melanoma and is a recurrent alteration found in common benign naevi. 31102256

2020

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE Combinations of BRAF inhibitors and MEK inhibitors (BRAFi + MEKi) are FDA-approved to treat BRAF V600E/K mutant melanoma. 31796433

2020

dbSNP: rs113488022
rs113488022
CUI: C0025202
Disease: melanoma
melanoma
0.800 GeneticVariation BEFREE The V600E mutation of BRAF (BRAF<sup>V600E</sup>), which constitutively activates the ERK/MAPK signaling pathway, is frequently found in melanoma and other cancers. 31548614

2020

dbSNP: rs113488022
rs113488022
CUI: C1709457
Disease: Papillary Thyroid Microcarcinoma
Papillary Thyroid Microcarcinoma
0.100 GeneticVariation BEFREE BRAF V600E differentiates the recurrence risk of PTMC, particularly low-risk PTMC. 31790974

2020

dbSNP: rs113488022
rs113488022
CUI: C1332969
Disease: Childhood Ganglioglioma
Childhood Ganglioglioma
0.100 GeneticVariation BEFREE Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type. 31667545

2020

dbSNP: rs113488022
rs113488022
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE A BRAF V600E mutation was identified in 15% of PD-L1-positive malignancies. 31821747

2020

dbSNP: rs113488022
rs113488022
CUI: C0206716
Disease: Ganglioglioma
Ganglioglioma
0.100 GeneticVariation BEFREE PA and GG BRAF V600E-mutant had significantly lower rADCmean (p < 0.001) and rADCmin (p < 0.001) values than wild type, regardless of tumor histology and location. 31667545

2020

dbSNP: rs113488022
rs113488022
CUI: C1332995
Disease: Childhood Pilocytic Astrocytoma
Childhood Pilocytic Astrocytoma
0.100 GeneticVariation BEFREE Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type. 31667545

2020

dbSNP: rs113488022
rs113488022
Malignant neoplasm of colon and/or rectum
0.100 GeneticVariation BEFREE Current clinical guidelines recommend mutation analysis for select codons in KRAS and NRAS exons 2, 3, and 4 and BRAF V600E to guide therapy selection and prognostic stratification in advanced colorectal cancer. 31589789

2020

dbSNP: rs113488022
rs113488022
CUI: C0280781
Disease: Adult Pilocytic Astrocytoma
Adult Pilocytic Astrocytoma
0.100 GeneticVariation BEFREE Role of diffusion weighted imaging for differentiating cerebral pilocytic astrocytoma and ganglioglioma BRAF V600E-mutant from wild type. 31667545

2020

dbSNP: rs113488022
rs113488022
CUI: C0017638
Disease: Glioma
Glioma
0.100 GeneticVariation BEFREE BRAF V600E mutation is a distinctive genomic alteration of pediatric low-grade gliomas with prognostic and therapeutic implications. 31667545

2020

dbSNP: rs113488022
rs113488022
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.100 GeneticVariation BEFREE Thyroid neoplasms with PD-L1 expression also ae enriched with BRAF V600E mutations, suggesting that they are associated with more aggressive behavior. 31821747

2020

dbSNP: rs113488022
rs113488022
CUI: C0334586
Disease: Pleomorphic Xanthoastrocytoma
Pleomorphic Xanthoastrocytoma
0.100 GeneticVariation BEFREE Review of histology showed malignant PXA with BRAF V600E mutation. 31748891

2020

dbSNP: rs113488022
rs113488022
CUI: C0040137
Disease: Thyroid Nodule
Thyroid Nodule
0.100 GeneticVariation BEFREE Testing for BRAF (V600E) Mutation in Thyroid Nodules with Fine-Needle Aspiration (FNA) Read as Suspicious for Malignancy (Bethesda V, Thy4, TIR4): a Systematic Review and Meta-analysis. 31811566

2020

dbSNP: rs113488022
rs113488022
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
0.100 GeneticVariation BEFREE BRAF- and MEK-targeted therapies are effective in BRAF V600E/K metastatic melanoma and lung cancers; however, responses are short-lived due to emergence of resistance. 31744895

2020

dbSNP: rs113488022
rs113488022
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma
0.100 GeneticVariation BEFREE Currently, several targeted therapy regimens are approved as first-line treatment in V600E/K-mutant advanced and metastatic melanoma. 31305324

2020

dbSNP: rs113488022
rs113488022
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE BRAF (V600E) mutation was found in about one in two nodules with thyroid FNA read as SFM, its PPV to detect cancers was excellent, and its NPV was very poor. 31811566

2020

dbSNP: rs113488022
rs113488022
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE Testing for BRAF (V600E) Mutation in Thyroid Nodules with Fine-Needle Aspiration (FNA) Read as Suspicious for Malignancy (Bethesda V, Thy4, TIR4): a Systematic Review and Meta-analysis. 31811566

2020