Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE This is the youngest case published to date of papillary craniopharyngioma with a confirmed BRAF V600E mutation. 30069716 2019
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE Recurrent papillary craniopharyngioma with BRAF V600E mutation treated with dabrafenib: case report. 29701552 2018
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE BRAF V600E mutations render PCP susceptible to BRAF/MEK inhibitors, but effective targeted therapies are needed for ACP. 29509940 2018
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE BRAF V600E mutant papillary craniopharyngiomas: a single-institutional case series. 30187175 2018
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
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
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE Dramatic Response of BRAF V600E Mutant Papillary Craniopharyngioma to Targeted Therapy. 26498373 2016
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE ENDOCRINE TUMORS: BRAF V600E mutations in papillary craniopharyngioma. 26563980 2016
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE BRAF V600E analysis for the differentiation of papillary craniopharyngiomas and Rathke's cleft cysts. 25442675 2015
Papillary craniopharyngioma
CUI: C0431128
Disease: Papillary craniopharyngioma
0.100 GeneticVariation BEFREE Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas (36 of 39 tumors) and mutation of CTNNB1 in 96% of adamantinomatous craniopharyngiomas (51 of 53 tumors). 24413733 2014