Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases

Lung Cancer. 2015 Jan;87(1):77-9. doi: 10.1016/j.lungcan.2014.10.017. Epub 2014 Nov 6.


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.

Materials and 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.

Keywords: BAP1; BAP1 cancer syndrome; Germline mutation; Germline mutation screening; Mesothelioma; Tumor predisposition syndrome.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Exons
  • Female
  • Genes, BRCA1*
  • Germ-Line Mutation*
  • Humans
  • Lung Neoplasms / diagnosis
  • Lung Neoplasms / genetics*
  • Male
  • Mesothelioma / diagnosis
  • Mesothelioma / genetics*
  • Mesothelioma, Malignant
  • Middle Aged
  • Neoplasm Staging
  • Pleural Neoplasms / diagnosis
  • Pleural Neoplasms / genetics*
  • Sequence Analysis, DNA
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics*


  • BAP1 protein, human
  • Tumor Suppressor Proteins
  • Ubiquitin Thiolesterase