rs730882002, TP53

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE NGS of the tumor showed an NRAS mutation (c.182A>G:p.Q61R) in 78%, a TP53 mutation (c.856G>A:p.E286K) in 60%, and a TERT gene mutation (1295250C>T) in 28% of the reads. 28973495 2017
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.020 GeneticVariation BEFREE The primary tumor and all the available metastases exhibited the same molecular oncogenic markers (namely, the RAS mutation p.Q61R and the telomerase promoter mutation C228T). 28781658 2017
Neuroendocrine Tumors
CUI: C0206754
Disease: Neuroendocrine Tumors
0.010 GeneticVariation BEFREE TP53 (p.R337C and p.R213*), PTEN (p.W111*, p.Q214*), CDKN2A (p.W110*), FBXW7 (p.R465H), and AKT1 (p.R23Q) were repetitive mutations found exclusively in rectal NETs, whereas SMAD4 (p.R361C) and STK11 (p.D176N) were repetitive mutations found only in gastric NETs. 30851333 2019
Eccrine porocarcinoma
CUI: C1266065
Disease: Eccrine porocarcinoma
0.010 GeneticVariation BEFREE Hotspot HRAS mutations were identified in two poromas (p.G13R and p.Q61R) and one porocarcinoma (p.G13C). 29269125 2018
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.010 GeneticVariation BEFREE All LUADs were found to harbor somatic mutations in the Kras oncogene (p. G12D or p. Q61R). 28653505 2017
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.010 GeneticVariation BEFREE The primary tumor and all the available metastases exhibited the same molecular oncogenic markers (namely, the RAS mutation p.Q61R and the telomerase promoter mutation C228T). 28781658 2017
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE The primary tumor and all the available metastases exhibited the same molecular oncogenic markers (namely, the RAS mutation p.Q61R and the telomerase promoter mutation C228T). 28781658 2017