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

Details

Serval ID
serval:BIB_E63FA95D6D8E
Type
Article: article from journal or magazin.
Collection
Publications
Title
Prevalence of BRCA-1 associated protein 1 germline mutation in sporadic malignant pleural mesothelioma cases.
Journal
Lung Cancer
Author(s)
Rusch A., Ziltener G., Nackaerts K., Weder W., Stahel R.A., Felley-Bosco E.
ISSN
1872-8332 (Electronic)
ISSN-L
0169-5002
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
87
Number
1
Pages
77-79
Language
english
Notes
Publication types: Journal Article Publication Status: ppublish
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.
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.
Pubmed
Web of science
Create date
26/01/2015 13:01
Last modification date
20/08/2019 16:09
Usage data