Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE This is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. 30069716

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma. 31200374

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The genetic analysis with whole-exome sequencing studies showed no differential mutations of CTNNB1 (β-catenin) and BRAF (V600E) between TC and NC subtypes, but there was a difference between adamantinomatous craniopharyngioma and papillary craniopharyngioma. 31200374

2019

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE This is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. 30069716

2019

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR. 30074466

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. 28840946

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E mutant papillary craniopharyngiomas: a single-institutional case series. 30187175

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report. 29701552

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE OBJECTIVE Exome sequencing studies have recently demonstrated that papillary craniopharyngiomas (PCPs) and adamantinomatous craniopharyngiomas (ACPs) have distinct genetic origins, each primarily driven by mutually exclusive alterations: either BRAF ( V600E), observed in 95% of PCPs, or CTNNB1, observed in 75%-96% of ACPs. 28707994

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report. 29701552

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE OBJECTIVE Exome sequencing studies have recently demonstrated that papillary craniopharyngiomas (PCPs) and adamantinomatous craniopharyngiomas (ACPs) have distinct genetic origins, each primarily driven by mutually exclusive alterations: either BRAF ( V600E), observed in 95% of PCPs, or CTNNB1, observed in 75%-96% of ACPs. 28707994

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E and CTNNB1 in papCP and adaCP samples were sequenced by next-generation sequencing and the Sanger method, and mRNA expression levels of Axin2 and BMP4 were evaluated by RT-PCR. 30074466

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE In this study, we first evaluated BRAF V600E and CTNNB1 mutations in four and 14 cases of pCP and aCP, respectively, using high-resolution melting analysis followed by Sanger sequencing. 28840946

2018

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE BRAF V600E mutant papillary craniopharyngiomas: a single-institutional case series. 30187175

2018

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Finally, we reveal that papillary craniopharyngioma (PCP), a benign human pituitary tumour harbouring <i>BRAF p.V600E</i> also contains Sox2<sup>+</sup> cells with sustained proliferative capacity and disrupted pituitary differentiation. 28506993

2017

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Finally, we reveal that papillary craniopharyngioma (PCP), a benign human pituitary tumour harbouring <i>BRAF p.V600E</i> also contains Sox2<sup>+</sup> cells with sustained proliferative capacity and disrupted pituitary differentiation. 28506993

2017

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy. 26498373

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. 27903124

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma. 26563980

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE The authors have previously shown high mutation rates of BRAF V600E in papillary craniopharyngioma and of CTNNB1 in adamantinomatous craniopharyngioma. 27903124

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy. 26498373

2016

dbSNP: rs121913377
rs121913377
0.100 GeneticVariation BEFREE ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma. 26563980

2016

dbSNP: rs113488022
rs113488022
0.100 GeneticVariation BEFREE BRAF V600E analysis for the differentiation of papillary craniopharyngiomas and Rathke's cleft cysts. 25442675

2015