Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372

2003

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE We observed mutations resulting in the V599E amino-acid substitution in 41 of 60 (68%) melanoma metastases, 4 of 5 (80%) primary melanomas and, unexpectedly, in 63 of 77 (82%) nevi. 12447372

2003

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889

2003

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE None of the 30 metastases and 10 primary uveal melanomas tested expressed the V599E mutation. 14522889

2003

dbSNP: rs121913227
rs121913227
0.080 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889

2003

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and 6 of 10 distant metastases) harbored the V599E B-RAF mutation (39%), 12 contained a Q61R N-RAS mutation and 5 a Q61K N-RAS mutation. 14695143

2003

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Thirty-three samples (7 of 25 primaries, 15 of 25 regional metastases, 5 of 25 nodal metastases, and 6 of 10 distant metastases) harbored the V599E B-RAF mutation (39%), 12 contained a Q61R N-RAS mutation and 5 a Q61K N-RAS mutation. 14695143

2003

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. 15272920

2004

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF(V599E) tended to be associated, although not significantly, with a greater volume and extension of the tumour and with lymph-nodal metastases at surgery. 15272920

2004

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Detection of B-raf exon 15 mutations or prediction of the activating mutation V599E were not statistically associated with the risk for subsequent metastasis in the follow-up of patients. 15331929

2004

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Detection of B-raf exon 15 mutations or prediction of the activating mutation V599E were not statistically associated with the risk for subsequent metastasis in the follow-up of patients. 15331929

2004

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, and 9 of 12 distant metastases) harbored the V599E B-RAF mutation (59%), 17 contained a Q61R N-RAS mutation, and 4 contained a Q61K N-RAS mutation. 15737846

2005

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Sixty-eight samples (20 of 36 primaries, 18 of 27 regional metastases, 16 of 40 nodal metastases, and 9 of 12 distant metastases) harbored the V599E B-RAF mutation (59%), 17 contained a Q61R N-RAS mutation, and 4 contained a Q61K N-RAS mutation. 15737846

2005

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Unexpectedly, V599 and V599E mutations were absent in cutaneous/subcutaneous metastases derived from acrolentiginous melanomas as preceding primary tumours. 15935100

2005

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Unexpectedly, V599 and V599E mutations were absent in cutaneous/subcutaneous metastases derived from acrolentiginous melanomas as preceding primary tumours. 15935100

2005

dbSNP: rs121913227
rs121913227
0.080 GeneticVariation BEFREE As to the B-raf protein sequence, the acidic amino acid transitions V599E and V599K were predicted in 19/60 (32%) and 6/60 (10%) cases, respectively, but were not associated with enhanced risk for subsequent metastasis in patients' follow up. 15935100

2005

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In line with the previous reports, NRAS/BRAF mutations were rare; only one metastatic tumor had an NRAS E61R mutation, and one primary tumor and two metastases harbored BRAF V599E mutations. 16098043

2005

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In line with the previous reports, NRAS/BRAF mutations were rare; only one metastatic tumor had an NRAS E61R mutation, and one primary tumor and two metastases harbored BRAF V599E mutations. 16098043

2005

dbSNP: rs121913227
rs121913227
0.080 GeneticVariation BEFREE The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications. 16179870

2005

dbSNP: rs121913364
rs121913364
0.020 GeneticVariation BEFREE Further studies are necessary to clarify the putative clinical significance (e.g. association to blood-born metastases) of PAX8-PPARgamma rearrangement, RAS mutations, and BRAF(K601E) in FVPTCs. 16219715

2006

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) significantly correlated with absence of node metastasis. 16452550

2006

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF(V600E) significantly correlated with absence of node metastasis. 16452550

2006

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In summary, this study provides a mechanistic basis for targeting Mek and not B-Raf in the mutant (V600E)B-Raf signaling cascade to inhibit melanoma metastases. 16912199

2006

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In summary, this study provides a mechanistic basis for targeting Mek and not B-Raf in the mutant (V600E)B-Raf signaling cascade to inhibit melanoma metastases. 16912199

2006

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF(V600E) mutation is identified in a subset of cutaneous metastases from PTC. 17387744

2007