Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE Among 41 response-evaluable patients, 2 (5 %) patients with cutaneous melanoma (one with BRAF L597R mutant melanoma) had partial responses. 27650277

2017
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		0.720 GeneticVariation BEFREE This study shows that cells harboring BRAF(L597R) mutants are sensitive to MEK inhibitor treatment, providing a rationale for routine screening and therapy of BRAF(L597R)-mutant melanoma. 22798288

2012
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.710 GeneticVariation BEFREE Among 41 response-evaluable patients, 2 (5 %) patients with cutaneous melanoma (one with BRAF L597R mutant melanoma) had partial responses. 27650277

2017
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 GeneticVariation BEFREE The rare BRAF L597Q mutation may be associated with aggressive tumor behavior in CRC. 31704811

2019
dbSNP: rs121913366
rs121913366
BRAF
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		0.010 GeneticVariation BEFREE The aim of this study was to examine clonal heterogeneity, to test the utility of liquid biopsy in monitoring disease progression and to evaluate the usefulness of ex vivo drug screening in a BRAF L597Q-mutated colorectal cancer (CRC) patient developing metastases during adjuvant therapy. 31704811

2019
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 GeneticVariation BEFREE Liquid biopsy based BRAF L597Q ddPCR testing was a sensitive personalized biomarker predicting the rise of clinically aggressive metastatic disease. 31704811

2019
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		0.010 GeneticVariation BEFREE Trametinib has antitumour activity in patients with BRAF K601E and L597Q mutation-positive metastatic melanoma. 24933606

2014
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 GeneticVariation BEFREE Analysis of BRAF sequence from 127 primary human lung adenocarcinomas revealed mutations in two tumor specimens, one in exon 11 (G465V), and a second in exon 15 (L596R). 12460919

2002