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

Sophie Sneddon, Justine S. Leon, Ian M. Dick, Gemma Cadby, Nola Olsen, Fraser Brims, Richard J.N. Allcock, Eric K. Moses, Phillip E. Melton, Nicholas de Klerk, A. W.B. Musk, Bruce W.S. Robinson, Jenette Creaney

    Research output: Contribution to journalArticlepeer-review

    20 Scopus citations

    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.

    Original languageEnglish (US)
    Pages (from-to)103-105
    Number of pages3
    JournalGene
    Volume563
    Issue number1
    DOIs
    StatePublished - May 25 2015

    Keywords

    • BAP1
    • Cancer syndrome
    • Mesothelioma
    • Mutation
    • Sporadic
    • Targeted sequencing

    ASJC Scopus subject areas

    • Genetics

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