A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.101...

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Autores principales: Yagi, Yasuto, Abeto, Naoko, Shiraishi, Junichi, Miyata, Chieko, Inoue, Satomi, Murakami, Haruka, Nakashima, Moeko, Sugano, Kokichi, Ushiama, Mineko, Yoshida, Teruhiko, Yamazawa, Kazuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761746/
https://www.ncbi.nlm.nih.gov/pubmed/35034951
http://dx.doi.org/10.1038/s41439-021-00180-8
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author Yagi, Yasuto
Abeto, Naoko
Shiraishi, Junichi
Miyata, Chieko
Inoue, Satomi
Murakami, Haruka
Nakashima, Moeko
Sugano, Kokichi
Ushiama, Mineko
Yoshida, Teruhiko
Yamazawa, Kazuki
author_facet Yagi, Yasuto
Abeto, Naoko
Shiraishi, Junichi
Miyata, Chieko
Inoue, Satomi
Murakami, Haruka
Nakashima, Moeko
Sugano, Kokichi
Ushiama, Mineko
Yoshida, Teruhiko
Yamazawa, Kazuki
author_sort Yagi, Yasuto
collection PubMed
description Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.
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spelling pubmed-87617462022-01-26 A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma Yagi, Yasuto Abeto, Naoko Shiraishi, Junichi Miyata, Chieko Inoue, Satomi Murakami, Haruka Nakashima, Moeko Sugano, Kokichi Ushiama, Mineko Yoshida, Teruhiko Yamazawa, Kazuki Hum Genome Var Data Report Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM_000143.3:c.1013_1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs. Nature Publishing Group UK 2022-01-17 /pmc/articles/PMC8761746/ /pubmed/35034951 http://dx.doi.org/10.1038/s41439-021-00180-8 Text en © The Author(s) 2021 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) .
spellingShingle Data Report
Yagi, Yasuto
Abeto, Naoko
Shiraishi, Junichi
Miyata, Chieko
Inoue, Satomi
Murakami, Haruka
Nakashima, Moeko
Sugano, Kokichi
Ushiama, Mineko
Yoshida, Teruhiko
Yamazawa, Kazuki
A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title_full A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title_fullStr A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title_full_unstemmed A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title_short A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma
title_sort novel pathogenic variant of the fh gene in a family with hereditary leiomyomatosis and renal cell carcinoma
topic Data Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8761746/
https://www.ncbi.nlm.nih.gov/pubmed/35034951
http://dx.doi.org/10.1038/s41439-021-00180-8
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