Publications by authors named "Aubrey Anne Mattingly"
The BAP1 tumor suppressor gene encodes a deubiquitinase enzyme involved in several cellular activities, including DNA repair and apoptosis. Germline pathogenic variants in BAP1 have been associated with heritable conditions including BAP1 tumor predisposition syndrome 1 (BAP1-TPDS1) and a neurodevelopmental disorder known as Kury-Isidor syndrome (KURIS). Both these conditions are caused by monoallelic, dominant alterations of BAP1 but have never been reported in the same subject or family, suggesting a mutually exclusive genotype-phenotype correlation.
View Article and Find Full Text PDFThe genetic susceptibility in the development of malignant pleural mesothelioma: somatic and germline variants, clinicopathological features and implication in practical medical/surgical care: a narrative review.
Maria Teresa Congedo Elizabeth Casey West Jessica Evangelista Aubrey Anne Mattingly Giuseppe Calabrese
J Thorac Dis
January 2024
Article Synopsis
- - Malignant pleural mesothelioma (MPM) is a highly aggressive cancer linked primarily to asbestos exposure, but recent trends show a growing number of cases without clear asbestos links, suggesting genetic factors may also play a significant role in susceptibility.
- - About 20% of MPM cases could be influenced by genetic predisposition, particularly involving the BAP1 gene, where those carrying specific variants tend to experience less aggressive forms of the disease and have different treatment needs.
- - The review summarizes research on both genetic (germline) and non-genetic (asbestos-related) causes of MPM, highlighting the importance of genetic testing and surveillance for at-risk individuals.