rs121913377, BRAF

N. diseases: 480
Disease: Malignant melanoma of conjunctiva ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
0.050 GeneticVariation BEFREE The MAPK pathway activity in CJM is increased, not only as a consequence of the BRAF V600E mutation. 31247083 2019
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
0.050 GeneticVariation BEFREE Herein, we report a case of a 70-years old patient with a metastatic conjunctival melanoma harboring V600E BRAF mutation successfully treated with dabrafenib and trametinib. 31024839 2019
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
0.050 GeneticVariation BEFREE This report demonstrates a unique case of conjunctival melanoma harboring a BRAF V600E mutation responsive to systemic therapy with BRAF and MEK inhibitors. 27893585 2017
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
0.050 GeneticVariation BEFREE Immunohistochemistry detected BRAF V600E mutations with a sensitivity of 0.94 and a specificity of 1.00 in newer conjunctival melanoma samples (2000-2012, n = 47). 27009410 2016
Malignant melanoma of conjunctiva
CUI: C0346360
Disease: Malignant melanoma of conjunctiva
0.050 GeneticVariation BEFREE Multiplex ligation-dependent probe amplification of conjunctival melanoma reveals common BRAF V600E gene mutation and gene copy number changes. 21693616 2011