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

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 somaticBAP1 variant. Also, no germline or somatic copy number changes in theBAP1 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 andMYO5A). Of these, the one inRBM15 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 germlineBAP1 alterations, other genetic factors might predispose families to the development of MM.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research