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


Sneddon, S and Leon, JS and Dick, IM and Cadby, G and Olsen, N and Brims, F and Allcock, RJN and Moses, EK and Melton, PE and de Klerk, N and Musk, AW and Robinson, BWS and Creaney, J, Absence of germline mutations in BAP1 in sporadic cases of malignant mesothelioma, Gene, 563, (1) pp. 103-5. ISSN 0378-1119 (2015) [Refereed Article]

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2015 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (

DOI: doi:10.1016/j.gene.2015.03.031


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.

Item Details

Item Type:Refereed Article
Keywords:BAP1; Cancer syndrome; Mesothelioma; Mutation; Sporadic; Targeted sequencing.
Research Division:Biological Sciences
Research Group:Genetics
Research Field:Gene mapping
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Melton, PE (Dr Phillip Melton)
ID Code:141433
Year Published:2015
Web of Science® Times Cited:23
Deposited By:Menzies Institute for Medical Research
Deposited On:2020-10-20
Last Modified:2021-07-29
Downloads:5 View Download Statistics

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