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

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

Author information

1
Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland.
2
KU Leuven, University Hospitals, Department of Pulmonology/Respiratory Oncology, Leuven, Belgium.
3
Division of Thoracic Surgery, University Hospital Zürich, Zürich, Switzerland.
4
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.
5
Laboratory of Molecular Oncology, Clinic of Oncology, University Hospital of Zürich, Häldeliweg 4, 8044 Zürich, Switzerland. Electronic address: emanuela.felley-bosco@usz.ch.

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.

KEYWORDS:

BAP1; BAP1 cancer syndrome; Germline mutation; Germline mutation screening; Mesothelioma; Tumor predisposition syndrome

PMID:
25468148
DOI:
10.1016/j.lungcan.2014.10.017
[Indexed for MEDLINE]

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