PBRM1, polybromo 1, 55193

N. diseases: 105; N. variants: 54
Disease: Neoplasm Metastasis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 GeneticVariation phenotype BEFREE Overall, the most common mutations in the metastases were VHL (66.8%), PBRM1 (41.87%), and SETD2 (24.7%). 29674707 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 AlteredExpression phenotype BEFREE We analyzed BAP1 and PBRM1 loss of protein expression in patient-matched primary and metastatic tumors from 97 patients. 28327121 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 GeneticVariation phenotype BEFREE Kaplan-Meier and Cox regression models were used to evaluate association of PBRM1 and BAP1 expression with the risk of death from renal cell carcinoma and the risk of metastasis after adjustment for age and the Mayo Clinic SSIGN (stage, size, grade and necrosis) score. 26300218 2016
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.040 GeneticVariation phenotype BEFREE BAP1-mutated tumors were associated with metastatic disease at presentation (P = 0.023), advanced clinical stage (P = 0.042) and a trend towards shorter recurrence free survival (P = 0.059) when compared with tumors exclusively mutated for PBRM1. 24166983 2014