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

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...

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Autores principales: Vimercati, Luigi, Cavone, Domenica, Fortarezza, Francesco, Delfino, Maria Celeste, Ficarella, Romina, Gentile, Angela, De Palma, Angela, Marulli, Giuseppe, De Maria, Luigi, Caporusso, Concetta, Marzullo, Andrea, d’Amati, Antonio, Romano, Daniele Egidio, Caputi, Antonio, Sponselli, Stefania, Serio, Gabriella, Pezzuto, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386481/
https://www.ncbi.nlm.nih.gov/pubmed/35992853
http://dx.doi.org/10.3389/fonc.2022.966063
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author Vimercati, Luigi
Cavone, Domenica
Fortarezza, Francesco
Delfino, Maria Celeste
Ficarella, Romina
Gentile, Angela
De Palma, Angela
Marulli, Giuseppe
De Maria, Luigi
Caporusso, Concetta
Marzullo, Andrea
d’Amati, Antonio
Romano, Daniele Egidio
Caputi, Antonio
Sponselli, Stefania
Serio, Gabriella
Pezzuto, Federica
author_facet Vimercati, Luigi
Cavone, Domenica
Fortarezza, Francesco
Delfino, Maria Celeste
Ficarella, Romina
Gentile, Angela
De Palma, Angela
Marulli, Giuseppe
De Maria, Luigi
Caporusso, Concetta
Marzullo, Andrea
d’Amati, Antonio
Romano, Daniele Egidio
Caputi, Antonio
Sponselli, Stefania
Serio, Gabriella
Pezzuto, Federica
author_sort Vimercati, Luigi
collection PubMed
description 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.
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spelling pubmed-93864812022-08-19 Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health Vimercati, Luigi Cavone, Domenica Fortarezza, Francesco Delfino, Maria Celeste Ficarella, Romina Gentile, Angela De Palma, Angela Marulli, Giuseppe De Maria, Luigi Caporusso, Concetta Marzullo, Andrea d’Amati, Antonio Romano, Daniele Egidio Caputi, Antonio Sponselli, Stefania Serio, Gabriella Pezzuto, Federica Front Oncol Oncology 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. Frontiers Media S.A. 2022-08-04 /pmc/articles/PMC9386481/ /pubmed/35992853 http://dx.doi.org/10.3389/fonc.2022.966063 Text en Copyright © 2022 Vimercati, Cavone, Fortarezza, Delfino, Ficarella, Gentile, De Palma, Marulli, De Maria, Caporusso, Marzullo, d’Amati, Romano, Caputi, Sponselli, Serio and Pezzuto https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Oncology
Vimercati, Luigi
Cavone, Domenica
Fortarezza, Francesco
Delfino, Maria Celeste
Ficarella, Romina
Gentile, Angela
De Palma, Angela
Marulli, Giuseppe
De Maria, Luigi
Caporusso, Concetta
Marzullo, Andrea
d’Amati, Antonio
Romano, Daniele Egidio
Caputi, Antonio
Sponselli, Stefania
Serio, Gabriella
Pezzuto, Federica
Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title_full Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title_fullStr Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title_full_unstemmed Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title_short Case report: Mesothelioma and BAP1 tumor predisposition syndrome: Implications for public health
title_sort case report: mesothelioma and bap1 tumor predisposition syndrome: implications for public health
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9386481/
https://www.ncbi.nlm.nih.gov/pubmed/35992853
http://dx.doi.org/10.3389/fonc.2022.966063
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