Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Identical BRAF V600E and telomerase reverse transcriptase promoter mutations were identified in both the original and recurrent tumor. 29620581

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Identical BRAF V600E and telomerase reverse transcriptase promoter mutations were identified in both the original and recurrent tumor. 29620581

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The primary and recurrent tumors both harbored the BRAF V600E mutation, and the recurrent tumor was immunonegative for ATRX. 28185325

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The primary and recurrent tumors both harbored the BRAF V600E mutation, and the recurrent tumor was immunonegative for ATRX. 28185325

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The tumor showed necrosis and the BRAF V600E mutation on histological examination, with no evidence of tumor recurrence 1 year after gross-total resection. 27015517

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE TERT promoter mutations are associated with aggressive thyroid tumor characteristics, tumor recurrence and patient mortality as well as BRAF V600E</span> mutation. 26733501

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The tumor showed necrosis and the BRAF V600E mutation on histological examination, with no evidence of tumor recurrence 1 year after gross-total resection. 27015517

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE TERT promoter mutations are associated with aggressive thyroid tumor characteristics, tumor recurrence and patient mortality as well as BRAF V600E</span> mutation. 26733501

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Decreased CPSF2 gene expression was associated with shorter disease-free survival (P = .03), large tumor size (T3 and T4) (P = .03), tumor recurrence (P < .01), and mortality (P < .01), independent of BRAF V600E mutation status. 24654752

2014

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Decreased CPSF2 gene expression was associated with shorter disease-free survival (P = .03), large tumor size (T3 and T4) (P = .03), tumor recurrence (P < .01), and mortality (P < .01), independent of BRAF V600E mutation status. 24654752

2014

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Genetic analyses revealed amplification of the BRAF gene in both the primary cerebellar pilocytic astrocytoma and the recurrent tumor with biphasic features, as well as a BRAF V600E missense mutation in the oligodendroglioma-like component. 23082883

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Although multivariate analysis showed that tumor recurrence was not associated with BRAF(V600E) mutation, it has not been shown that treating these patients more aggressively changes outcomes. 23370668

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Genetic analyses revealed amplification of the BRAF gene in both the primary cerebellar pilocytic astrocytoma and the recurrent tumor with biphasic features, as well as a BRAF V600E missense mutation in the oligodendroglioma-like component. 23082883

2013

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Although multivariate analysis showed that tumor recurrence was not associated with BRAF(V600E) mutation, it has not been shown that treating these patients more aggressively changes outcomes. 23370668

2013

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The proportion of BRAF(V600E) mutation was significantly associated with the number of high-risk factors of tumor recurrence (P < 0.001). 22190222

2012

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The proportion of BRAF(V600E) mutation was significantly associated with the number of high-risk factors of tumor recurrence (P < 0.001). 22190222

2012

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. 21526955

2011

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In addition to the diagnostic use, BRAF V600E mutation can also be used for tumor prognostication, as this mutation is associated with higher rate of tumor recurrence and tumor-related mortality. 21526955

2011

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Most clinical studies have demonstrated an association of BRAF(V600E) mutation with aggressive clinicopathologic characteristics and high tumor recurrence, although the results are controversial. 20230995

2010

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Most clinical studies have demonstrated an association of BRAF(V600E) mutation with aggressive clinicopathologic characteristics and high tumor recurrence, although the results are controversial. 20230995

2010

dbSNP: rs16949649
rs16949649
0.010 GeneticVariation BEFREE TT genotype at rs16949649 and CC genotype at rs2302254 were associated with higher rates of tumors larger than 20 mm, Ki67 LI and tumor recurrence. 31734851

2020

dbSNP: rs2302254
rs2302254
0.010 GeneticVariation BEFREE TT genotype at rs16949649 and CC genotype at rs2302254 were associated with higher rates of tumors larger than 20 mm, Ki67 LI and tumor recurrence. 31734851

2020

dbSNP: rs121434592
rs121434592
0.010 GeneticVariation BEFREE One patient harbored an AKT1 E17K mutation in the recurrent tumor, whereas PIK3CA E542K and E88Q mutations were detected in the primary and untreated metastatic tumor samples. 30898102

2019

dbSNP: rs747489687
rs747489687
0.010 GeneticVariation BEFREE The MCPH1 p.Arg304ValfsTer3 carrier breast tumors showed recurrent tumor suppressor gene TP53 mutations, which were also significantly over-represented in breast tumors with somatically inactivated MCPH1. 30809794

2019

dbSNP: rs1056892
rs1056892
0.010 GeneticVariation BEFREE Our results suggest that NOS3 895G>T and CBR3 730G>A are genetic markers that can be used to predict tumor recurrence in NMIBC patients receiving intravesical instillations of THP. 30125887

2018