Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE To establish preoperative prediction criteria to identify patients with a BRAF mutant craniopharyngioma. 30481321 2019
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE Recent insight in molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations. 31678973 2019
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE Although established approaches along with new surgical and radiotherapeutic approaches remain the main treatment modalities, recent evidence has provided insight into their molecular pathogenesis involving, other than chemotherapy, treatments with targeted agents as in gliomas and craniopharyngiomas bearing BRAF mutations. 30779850 2019
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE In conclusion, mutation profiles of BRAF wild-type craniopharyngiomas and ameloblastomas share mutations of FGFR genes and have additional mutations with potential for targeted therapy. 29546640 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 Biomarker disease BEFREE A thorough analysis of the alterations of β-catenin/CTNNB1 and BRAF genes investigated in 1123 CP cases included in 27 studies, showed that, on average, CTNNB1 mutations were present in two-thirds of adamantinomatous CPs and BRAF mutations in 90% of papillary CPs. 29700680 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE RESULTS Eight of the 52 patients had BRAF-mutated craniopharyngiomas, and the remaining 44 had BRAF WT tumors. 28984520 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE Papillary craniopharyngiomas are defined by BRAF <sup>V600E</sup> mutations while β-catenin alterations characterize adamantinomatous craniopharyngiomas. 29396598 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 Biomarker disease BEFREE The advent of targeted therapy of the BRAF/MEK pathway is associated with new therapeutic opportunities for patients with craniopharyngiomas. 29952427 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas. 30187175 2018
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE In total, 14-50% of adult-onset craniopharyngioma are papillary; the majority with a mutation in exon 3 of BRAF and may respond to BRAF inhibitors and mitogen-activated protein kinase inhibitors. 27258775 2016
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE BRAF V600E mutations were solely found in the papCP subgroup and were not detectable in adaCP samples. 26927026 2016
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 Biomarker disease BEFREE As these targetable mutations warrant prospective research, the authors will be conducting a national National Cancer Institute-sponsored multicenter clinical trial to investigate BRAF/MEK inhibition in the treatment of craniopharyngioma. 27903124 2016
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease BEFREE Here, we describe our treatment of a man age 39 years with multiply recurrent BRAF V600E craniopharyngioma using dabrafenib (150mg, orally twice daily) and trametinib (2mg, orally twice daily). 26498373 2016
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 GeneticVariation disease 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
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 SomaticCausalMutation disease ORPHANET 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
CUI: C0010276
Disease: Craniopharyngioma
Craniopharyngioma
0.600 Biomarker disease CTD_human 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