title: Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.
abstract: OBJECTIVE
  23% of mesothelioma tumor specimens have a mutation in the BRCA1-associated protein 1 (BAP1) gene and germline BAP1 mutations predispose to malignant pleural mesothelioma (MPM). Our aim was to investigate germline BAP1 mutations in sporadic MPM patients.
  
  
  METHODS
  Exonic DNA from peripheral blood leucocytes of 78 MPM patients was screened for germline BAP1 mutation.
  
  
  RESULTS
  One out of 78 patients showed a germline synonymous mutation in exon 11. In all other patients wild-type sequence without any single-nucleotide polymorphisms was detected.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland.
authors.forename: Andreas
authors.initials: A
authors.lastname: Rusch
authors.affiliation: Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Ziltener
authors.affiliation: KU Leuven, University Hospitals, Department of Pulmonology/Respiratory Oncology, Leuven, Belgium.
authors.forename: Kristiaan
authors.initials: K
authors.lastname: Nackaerts
authors.affiliation: Division of Thoracic Surgery, University Hospital Zürich, Zürich, Switzerland.
authors.forename: Walter
authors.initials: W
authors.lastname: Weder
authors.affiliation: Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland; Trial Chair SAKK 17/04, Swiss Group for Clinical Cancer Research, Switzerland.
authors.forename: Rolf A
authors.initials: RA
authors.lastname: Stahel
authors.affiliation: Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland. Electronic address: emanuela.felley-bosco@usz.ch.
authors.forename: Emanuela
authors.initials: E
authors.lastname: Felley-Bosco
mesh_terms: D000368:Aged; D005091:Exons; D005260:Female; D019398:Genes, BRCA1; D018095:Germ-Line Mutation; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008654:Mesothelioma / Q000175:diagnosis / Q000235:genetics*; D000086002:Mesothelioma, Malignant; D008875:Middle Aged; D009367:Neoplasm Staging; D010997:Pleural Neoplasms / Q000175:diagnosis / Q000235:genetics*; D017422:Sequence Analysis, DNA; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D043222:Ubiquitin Thiolesterase / Q000235:genetics*
chemical_list: C400134:BAP1 protein, human; D025521:Tumor Suppressor Proteins; D043222:Ubiquitin Thiolesterase
keywords: BAP1; BAP1 cancer syndrome; Germline mutation; Germline mutation screening; Mesothelioma; Tumor predisposition syndrome