Detecting germline BAP1 mutations in patients with peritoneal mesothelioma: benefits to patient and family members

J Transl Med. 2018 Jul 13;16(1):194. doi: 10.1186/s12967-018-1559-7.

Abstract

Germline mutations in the BRCA-1 associated tumor protein 1 (BAP1) increase susceptibility to mesothelioma and other cancers. We describe a patient with a family history of peritoneal mesothelioma, who developed malignant peritoneal mesothelioma at age 45 in the absence of known asbestos exposure. These findings lead us to hypothesize that the mesothelioma occurred in the setting of germline a BAP1 mutation. This was confirmed by genetic testing. The subsequent therapeutic choices for the patient and testing of at-risk family members highlight the importance of recognizing this genetic syndrome and screening for individuals at high risk.

Keywords: BAP1; Early detection; Familial; Germline; Melanoma; Mesothelioma; Screening.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Germ-Line Mutation / genetics*
  • Humans
  • Laparoscopy
  • Lung Neoplasms / diagnostic imaging
  • Lung Neoplasms / genetics*
  • Lung Neoplasms / pathology
  • Male
  • Mesothelioma / diagnostic imaging
  • Mesothelioma / genetics*
  • Mesothelioma / pathology
  • Mesothelioma, Malignant
  • Middle Aged
  • Pedigree
  • Peritoneal Neoplasms / diagnostic imaging
  • Peritoneal Neoplasms / genetics*
  • Peritoneal Neoplasms / pathology
  • Tumor Suppressor Proteins / genetics*
  • Ubiquitin Thiolesterase / genetics*

Substances

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