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Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health

Authors :
Luigi Vimercati
Domenica Cavone
Francesco Fortarezza
Maria Celeste Delfino
Romina Ficarella
Angela Gentile
Angela De Palma
Giuseppe Marulli
Luigi De Maria
Concetta Caporusso
Andrea Marzullo
Antonio d’Amati
Daniele Egidio Romano
Antonio Caputi
Stefania Sponselli
Gabriella Serio
Federica Pezzuto
Source :
Frontiers in Oncology, Vol 12 (2022)
Publication Year :
2022
Publisher :
Frontiers Media S.A., 2022.

Abstract

BRCA-1 associated protein 1 (BAP1) tumour predisposition syndrome (TPDS) is a hereditary condition characterised by germline mutation of the tumour suppressor BAP1. This disorder is associated with the development of various benign and malignant tumours, mainly involving the skin, eyes, kidneys, and mesothelium. In this article, we report the case of a man recruited through the Apulia (Southern Italy) Mesothelioma Regional Operational Centre of the National Register of Mesotheliomas, who suffered from uveal melanoma, renal cancer, and mesothelioma, and a familial cluster of BAP1 germline mutations demonstrated by molecular analyses. The family members of the proband developed multiple malignancies. As tumours arising in this context have specific peculiarities in terms of clinical behaviour, identification of this condition through appropriate genetic counselling should be considered for adequate primary, secondary, and tertiary prevention measures for offspring.

Details

Language :
English
ISSN :
2234943X
Volume :
12
Database :
Directory of Open Access Journals
Journal :
Frontiers in Oncology
Publication Type :
Academic Journal
Accession number :
edsdoj.63f77b219ea54002aae7920bfced9f33
Document Type :
article
Full Text :
https://doi.org/10.3389/fonc.2022.966063