Genetic Basis of Mesothelioma--More Than Asbestos Exposure

Our plain-English summary of Genetic Basis of Mesothelioma--More Than Asbestos Exposure, by D. Lee (Journal of Thoracic Oncology, 2016).

The study

• Author: D. Lee
• Journal: Journal of Thoracic Oncology
• Published: 2016;11(2):e27-8
• Type of article: Letter, Comment
• Cited by: 1 article, as counted by NIH iCite
• Read it: PubMed · Publisher

In plain English

This is a letter to the editor, not an original study. The author discussed published research on genetic factors in mesothelioma. The author noted that an earlier study had found germline and somatic mutations in the tumor suppressor gene BAP1 in families with a high incidence of mesothelioma, all of whose members had nonoccupational, residential asbestos exposure, and also in sporadic cases. The letter cited a study by Nasu et al. that found somatic BAP1 mutations in more than 60% of 22 frozen mesothelioma biopsies, a finding repeated in another 70 biopsy samples, with no significant correlation between BAP1 mutation frequency and asbestos exposure. Other cited work reported mutations in chromatin-remodeling genes in eight cell lines from patients who all had asbestos exposure, and mutations in genes including NF2, LATS2, CDKN2A and CUL1. The author concluded that published reports point to asbestos exposure as the predominant cause of mesothelioma, with susceptibility increased by genetic predisposition. The author added that it has not yet been shown whether a genetic mutation by itself is sufficient to cause mesothelioma.

We wrote this plain-English summary from the full article with the help of AI, and a second AI model checked each sentence against the article. It is not the authors' wording; the abstract and the article are their own account.

What the study did and found

• Design: Letter to the editor discussing published studies; no original data
• Who was studied: No study population of its own; the letter discusses published studies of families with mesothelioma, sporadic cases, mesothelioma biopsies, and mesothelioma cell lines and tissues
• Exposure: Asbestos exposure (no fiber types named), including nonoccupational, residential exposure in the BAP1 families, considered together with genetic mutations
• Main results:
  • A cited earlier study (Testa et al.) found both germline and somatic BAP1 mutations in families with a high incidence of mesothelioma and in sporadic cases
  • A cited study by Nasu et al. found somatic BAP1 mutations in more than 60% of 22 frozen mesothelioma biopsies and duplicated the finding in another 70 biopsy samples
  • In the Nasu et al. study, there was no significant correlation between the frequency of BAP1 mutations and asbestos exposure among patients
  • A cited study found germline and somatic mutations in mSWI/SNF chromatin-remodeling genes; these results came from eight mesothelioma cell lines from patients who all had a history of asbestos exposure
  • Other cited studies reported somatic mutations in NF2, LATS2, CDKN2A and CUL1 in mesothelioma cell lines and tissues, and fusion transcripts such as LATS1-PSEN1
  • The author stated that it has not yet been shown whether a genetic mutation by itself is sufficient to cause mesothelioma
• The authors' conclusion: The author concluded that reports in the literature point toward asbestos exposure as the predominant cause of mesothelioma, with susceptibility increased by genetic predisposition

Topics

The National Library of Medicine indexes this study under subjects our site covers: Lung cancer, Mesothelioma.

Medical terms in this study, explained in our Lexicon: Mesothelioma, Asbestos Exposure.

Related studies

• BAP1 Is Altered by Copy Number Loss, Mutation, and/or Loss of Protein Expression in More Than 70% of Malignant Peritoneal Mesotheliomas — N. Leblay, F. Leprêtre, et al. (2017)
• High Incidence of Somatic BAP1 alterations in sporadic malignant mesothelioma — M. Nasu, M. Emi, et al. (2015)
• Whole-exome sequencing reveals frequent genetic alterations in BAP1, NF2, CDKN2A, and CUL1 in malignant pleural mesothelioma — G. Guo, J. Chmielecki, et al. (2015)
• Tumours associated with BAP1 mutations — R. Murali, T. Wiesner, et al. (2013)
• Comprehensive review of BAP1 tumor predisposition syndrome with report of two new cases — K. Rai, R. Pilarski, et al. (2016)
• Germline BAP1 mutations induce a Warburg effect — A. Bononi, H. Yang, et al. (2017)

Browse more research in Journal of Thoracic Oncology, or return to medical research.