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Erschienen in: Familial Cancer 4/2018

30.06.2018 | Original Article

Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma

verfasst von: Marieke Hylebos, Ken Op de Beeck, Jenneke van den Ende, Patrick Pauwels, Martin Lammens, Jan P. van Meerbeeck, Guy Van Camp

Erschienen in: Familial Cancer | Ausgabe 4/2018

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Abstract

Familial clustering of malignant mesothelioma (MM) has been linked to the presence of germline mutations in BAP1. However, families with multiple MM patients, without segregating BAP1 mutation were described, suggesting the existence of other predisposing genetic factors. In this study, we report a previously undescribed Belgian family, in which BAP1 was found to be absent in the epithelial malignant mesothelial cells of the index patient. Whole exome analysis did not reveal a germline or somatic BAP1 variant. Also, no germline or somatic copy number changes in the BAP1 region could be identified. However, germline variants, predicted to be damaging, were detected in 11 other ‘Cancer census genes’ (i.e. MPL, RBM15, TET2, FAT1, HLA-A, EGFR, KMT2C, BRD3, NOTCH1, RB1 and MYO5A). Of these, the one in RBM15 seems to be the most interesting given its low minor allele frequency and absence in the germline DNA of the index patient’s mother. The importance of this ‘Cancer census gene’ in familial MM clustering needs to be evaluated further. Nevertheless, this study strengthens the suspicion that, next to germline BAP1 alterations, other genetic factors might predispose families to the development of MM.
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Metadaten
Titel
Molecular analysis of an asbestos-exposed Belgian family with a high prevalence of mesothelioma
verfasst von
Marieke Hylebos
Ken Op de Beeck
Jenneke van den Ende
Patrick Pauwels
Martin Lammens
Jan P. van Meerbeeck
Guy Van Camp
Publikationsdatum
30.06.2018
Verlag
Springer Netherlands
Erschienen in
Familial Cancer / Ausgabe 4/2018
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-018-0095-1

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