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Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family

Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothora...

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Autores principales: Bandini, Erika, Cangini, Ilaria, Arcangeli, Valentina, Ravegnani, Mila, Andreotti, Virginia, Prisinzano, Giovanna, Pastorino, Lorenza, Martinelli, Giovanni, Falcini, Fabio, Calistri, Daniele, Zampiga, Valentina, Danesi, Rita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882722/
https://www.ncbi.nlm.nih.gov/pubmed/35237525
http://dx.doi.org/10.3389/fonc.2022.835346
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author Bandini, Erika
Cangini, Ilaria
Arcangeli, Valentina
Ravegnani, Mila
Andreotti, Virginia
Prisinzano, Giovanna
Pastorino, Lorenza
Martinelli, Giovanni
Falcini, Fabio
Calistri, Daniele
Zampiga, Valentina
Danesi, Rita
author_facet Bandini, Erika
Cangini, Ilaria
Arcangeli, Valentina
Ravegnani, Mila
Andreotti, Virginia
Prisinzano, Giovanna
Pastorino, Lorenza
Martinelli, Giovanni
Falcini, Fabio
Calistri, Daniele
Zampiga, Valentina
Danesi, Rita
author_sort Bandini, Erika
collection PubMed
description Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its diagnosis is not easy and consequently underestimated. Several mutations have been identified in FLCN gene, among which the majority of alterations are frameshift (insertion/deletion), nonsense, or splice-site mutations that generally produce unfunctional truncated FLCN proteins. Our aim is to present a case of a BHDS family whose proband is a 56-year-old patient who has been experiencing multiple disorders, has an FLCN genetic mutation, and has also been identified to have a pathogenic variant in BRCA2 gene. Our further purpose is to emphasize the importance of the next-generation sequencing (NGS) approach to identify potential multiple germline mutations in complex and rare oncologic disorders, allowing strict and more targeted cancer screening programs.
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spelling pubmed-88827222022-03-01 Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family Bandini, Erika Cangini, Ilaria Arcangeli, Valentina Ravegnani, Mila Andreotti, Virginia Prisinzano, Giovanna Pastorino, Lorenza Martinelli, Giovanni Falcini, Fabio Calistri, Daniele Zampiga, Valentina Danesi, Rita Front Oncol Oncology Birt–Hogg–Dubé syndrome (BHDS) is a rare autosomal dominant inherited disorder caused by a mutation in folliculin (FLCN) gene transmitted via germline autosomal dominant pattern. Patients with this syndrome have an increased susceptibility to renal cell carcinoma, lung cysts, spontaneous pneumothorax, and benign skin hamartomas, and its diagnosis is not easy and consequently underestimated. Several mutations have been identified in FLCN gene, among which the majority of alterations are frameshift (insertion/deletion), nonsense, or splice-site mutations that generally produce unfunctional truncated FLCN proteins. Our aim is to present a case of a BHDS family whose proband is a 56-year-old patient who has been experiencing multiple disorders, has an FLCN genetic mutation, and has also been identified to have a pathogenic variant in BRCA2 gene. Our further purpose is to emphasize the importance of the next-generation sequencing (NGS) approach to identify potential multiple germline mutations in complex and rare oncologic disorders, allowing strict and more targeted cancer screening programs. Frontiers Media S.A. 2022-02-14 /pmc/articles/PMC8882722/ /pubmed/35237525 http://dx.doi.org/10.3389/fonc.2022.835346 Text en Copyright © 2022 Bandini, Cangini, Arcangeli, Ravegnani, Andreotti, Prisinzano, Pastorino, Martinelli, Falcini, Calistri, Zampiga and Danesi 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
Bandini, Erika
Cangini, Ilaria
Arcangeli, Valentina
Ravegnani, Mila
Andreotti, Virginia
Prisinzano, Giovanna
Pastorino, Lorenza
Martinelli, Giovanni
Falcini, Fabio
Calistri, Daniele
Zampiga, Valentina
Danesi, Rita
Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title_full Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title_fullStr Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title_full_unstemmed Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title_short Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt–Hogg–Dubè Syndrome Family
title_sort case report: a brca2 mutation identified through next-generation sequencing in a birt–hogg–dubè syndrome family
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8882722/
https://www.ncbi.nlm.nih.gov/pubmed/35237525
http://dx.doi.org/10.3389/fonc.2022.835346
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