Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913399
rs121913399
CTNNB1
C 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913399
rs121913399
CTNNB1
A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28931588
rs28931588
CTNNB1
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs28931589
rs28931589
CTNNB1
T 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913399
rs121913399
CTNNB1
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009
dbSNP: rs28931588
rs28931588
CTNNB1
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009
dbSNP: rs28931589
rs28931589
CTNNB1
0.710 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009
dbSNP: rs587779352
rs587779352
APC
T 0.700 CausalMutation CLINVAR

dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE Recent insight in molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations. 31678973

2019
dbSNP: rs121913377
rs121913377
BRAF
0.050 GeneticVariation BEFREE Recent insight in molecular pathogenesis of CP opens new perspectives on targeted therapy in papillary CP harboring BRAF-V600E mutations. 31678973

2019
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas. 30187175

2018
dbSNP: rs121913377
rs121913377
BRAF
0.050 GeneticVariation BEFREE BRAF V600E mutant papillary tumors represent a clearly distinct clinical-pathological entity of craniopharyngiomas. 30187175

2018
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation 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
dbSNP: rs113488022
rs113488022
BRAF
0.050 GeneticVariation BEFREE BRAF V600E mutations were solely found in the papCP subgroup and were not detectable in adaCP samples. 26927026

2016
dbSNP: rs121913377
rs121913377
BRAF
0.050 GeneticVariation BEFREE BRAF V600E mutations were solely found in the papCP subgroup and were not detectable in adaCP samples. 26927026

2016
dbSNP: rs121913377
rs121913377
BRAF
0.050 GeneticVariation 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
dbSNP: rs113488022
rs113488022
BRAF
0.050 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
dbSNP: rs121913377
rs121913377
BRAF
0.050 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
dbSNP: rs121913403
rs121913403
CTNNB1
0.010 GeneticVariation BEFREE These included 5 different point mutations, 3 of them identified in 2 different tumors: S23N (cribriform trichoblastoma), D32Y (pilomatricoma and craniopharyngioma), G34R (pilomatrical carcinoma and craniopharyngioma), S37F (2 BCCs with shadow cell differentiation), and G34V (craniopharyngioma). 19384065

2009