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    Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma

    Access Status
    Open access via publisher
    Authors
    Sneddon, S.
    Leon, J.
    Dick, I.
    Cadby, G.
    Olsen, N.
    Brims, F.
    Allcock, R.
    Moses, Eric
    Melton, P.
    de Klerk, N.
    Musk, A.
    Robinson, B.
    Creaney, J.
    Date
    2015
    Collection
    • Curtin Research Publications
    Type
    Journal Article
    Metadata
    Show full item record
    Abstract

    Malignant mesothelioma (MM) is a uniformly fatal tumour caused predominantly by exposure to asbestos. It is not known why some exposed individuals get mesothelioma and others do not. There is some epidemiological evidence of host susceptibility. BAP1 gene somatic mutations and allelic loss are common in mesothelioma and recently a BAP1 cancer syndrome was described in which affected individuals and families had an increased risk of cancer of multiple types, including MM. To determine if BAP1 mutations could underlie any of the sporadic mesothelioma cases in our cohort of patients, we performed targeted deep sequencing of the BAP1 exome on the IonTorrent Proton sequencer in 115 unrelated MM cases. No exonic germline BAP1 mutations of known functional significance were observed, further supporting the notion that sporadic germline BAP1 mutations are not relevant to the genetic susceptibility of MM.

    Citation
    Sneddon, S. and Leon, J. and Dick, I. and Cadby, G. and Olsen, N. and Brims, F. and Allcock, R. et al. 2015. Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma. Gene. 563 (1): pp. 103-105.
    Source Title
    Gene
    URI
    http://hdl.handle.net/20.500.11937/26202
    DOI
    10.1016/j.gene.2015.03.031
    Department
    School of Biomedical Sciences

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