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A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient
Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419138/ https://www.ncbi.nlm.nih.gov/pubmed/37569793 http://dx.doi.org/10.3390/ijms241512418 |
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author | Bandini, Erika Zampiga, Valentina Cangini, Ilaria Ravegnani, Mila Arcangeli, Valentina Rossi, Tania Mammi, Isabella Schiavi, Francesca Zovato, Stefania Falcini, Fabio Calistri, Daniele Danesi, Rita |
author_facet | Bandini, Erika Zampiga, Valentina Cangini, Ilaria Ravegnani, Mila Arcangeli, Valentina Rossi, Tania Mammi, Isabella Schiavi, Francesca Zovato, Stefania Falcini, Fabio Calistri, Daniele Danesi, Rita |
author_sort | Bandini, Erika |
collection | PubMed |
description | Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt–Hogg–Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers. |
format | Online Article Text |
id | pubmed-10419138 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-104191382023-08-12 A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient Bandini, Erika Zampiga, Valentina Cangini, Ilaria Ravegnani, Mila Arcangeli, Valentina Rossi, Tania Mammi, Isabella Schiavi, Francesca Zovato, Stefania Falcini, Fabio Calistri, Daniele Danesi, Rita Int J Mol Sci Case Report Subjects with pathogenic (PV) and likely pathogenic (LPV) FLCN variants have an increased risk of manifesting benign and malignant disorders that are related to Birt–Hogg–Dubé syndrome (BHDS): an autosomal dominantly inherited disorder whose severity can vary significantly. Renal cell carcinoma (RCC) development in BHD (Birt–Hogg–Dubé) patients has a very high incidence; thus, identifying this rare syndrome at early stages and preventing metastatic spread is crucial. Over the last decade, the advancement of Next Generation Sequencing (NGS) and the implementation of multigene panels for hereditary cancer syndromes (HCS) have led to a subsequent focus on additional genes and variants, including those of uncertain significance (VUS). Here, we describe a novel FLCN variant observed in a subject manifesting disorders that were suspected to be related to BHDS and with a family history of multiple cancers. MDPI 2023-08-04 /pmc/articles/PMC10419138/ /pubmed/37569793 http://dx.doi.org/10.3390/ijms241512418 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Case Report Bandini, Erika Zampiga, Valentina Cangini, Ilaria Ravegnani, Mila Arcangeli, Valentina Rossi, Tania Mammi, Isabella Schiavi, Francesca Zovato, Stefania Falcini, Fabio Calistri, Daniele Danesi, Rita A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title | A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title_full | A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title_fullStr | A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title_full_unstemmed | A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title_short | A Novel FLCN Variant in a Suspected Birt–Hogg–Dubè Syndrome Patient |
title_sort | novel flcn variant in a suspected birt–hogg–dubè syndrome patient |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10419138/ https://www.ncbi.nlm.nih.gov/pubmed/37569793 http://dx.doi.org/10.3390/ijms241512418 |
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