Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913279
rs121913279
0.030 GeneticVariation BEFREE One hundred twenty-three patients were evaluated and the PIK3CA-H1047R mutation was assayed in sentinel LNs (SLNs), non-SLNs without metastasis, and serum by digital PCR. 30805870

2019

dbSNP: rs121913279
rs121913279
0.030 GeneticVariation BEFREE This is best illustrated by an activating PIK3CA mutation (H1047R) which was clonal in the primary tumor, but completely absent from either the metastasis or cfDNA. 26317216

2015

dbSNP: rs121913279
rs121913279
0.030 GeneticVariation BEFREE In addition, the oncogenic PIK3CA(H1047R) mutation was detected in a subpopulation of PV1, but this mutation did not seem to play a major role in vemurafenib resistance in this metastasis. 23948972

2013

dbSNP: rs71310379
rs71310379
0.020 GeneticVariation BEFREE The absence of PTEN leads to caveolin-1 (CAV1)-dependent β-catenin transcriptional modulation in vitro, cooperates with NRAS(Q61K) to initiate melanomagenesis in vivo and induces efficient metastasis formation associated with E-cadherin internalization. 26307673

2015

dbSNP: rs71310379
rs71310379
0.020 GeneticVariation BEFREE We identified two NRAS-activating somatic mutations, Q61R and Q61K, affecting two main subpopulations in the metastasis PV1 and a BRAF alternative splicing, involving exons 4-10, in the metastasis PV2. 23948972

2013

dbSNP: rs7646409
rs7646409
0.010 GeneticVariation BEFREE However, after stratified analysis, the genotype AA of AKT rs6973569 carried a higher risk of osteosarcoma metastasis (OR:2.94, 95%CL:1.00-8.59); the difference of rs7646409 genotype distributions between the case and control groups was statistically significant (P = 0.032). 24175786

2013