Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.100 | GeneticVariation | disease | BEFREE | BAP1 loss-of-function is increasingly reported in cancers including thoracic malignancies, with frequent mutation in malignant pleural mesothelioma. | 25970771 | 2015 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Here we report mRNA splicing analysis on a homozygous substitution mutation, BAP1 c. 2054 A&T (p.Glu685Val), identified in an MPM cell line derived from a mesothelioma patient. | 25830670 | 2015 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | An asbestos-exposed family with multiple cases of pleural malignant mesothelioma without inheritance of a predisposing BAP1 mutation. | 26364129 | 2015 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Taking into account previous similar screenings, the prevalence of germline BAP1 mutations in sporadic MPM patients can be estimated around 1-2%, suggesting a minor role of germline BAP1 mutation in the pathogenesis of sporadic MPM. | 25468148 | 2015 | ||||
|
0.100 | Biomarker | disease | BEFREE | Further investigations need to be performed to characterize the BAP1 mutations and to identify the BAP1 downstream targets in MPM. | 23963927 | 2014 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Recent reports have also focused upon germline mutations in the BRCA1-associated protein 1 (BAP1), not only in cases of familial mesothelioma, but also BAP1 deletion in sporadic MM. | 23833051 | 2013 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | No other clinical feature was significantly different among those with and without BAP1 mutations in their MPM. | 24128712 | 2013 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | Recent work has focused on the frequent somatic inactivation of two tumor suppressor genes in MPM-NF2 (Neurofibromatosis type 2) and the recently identified BAP1 (BRCA associated protein 1). | 22825583 | 2012 | ||||
|
0.100 | GeneticVariation | disease | BEFREE | The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. | 21642991 | 2011 |