A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas

Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (M...

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Autores principales: Giannoni, Ana Paula, Sevic, Ina, Parenti, Fernanda, Alaniz, Laura
Formato: Artículo publishedVersion
Lenguaje:Inglés
Publicado: 2023
Materias:
MSH6
Lynch syndrome
Lipomas
Genetic screening
Cancer risk
Acceso en línea:http://repositorio.unnoba.edu.ar/xmlui/handle/23601/666
Aporte de:
Re DI Repositorio Digital UNNOBA de Universidad Nacional del Noroeste de la Provincia de Buenos Aires
id I103-R405-23601-666
record_format dspace
spelling I103-R405-23601-6662025-10-21T21:15:19Z A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas Giannoni, Ana Paula Sevic, Ina Parenti, Fernanda Alaniz, Laura MSH6 Lynch syndrome Lipomas Genetic screening Cancer risk Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help evaluate the cancer risk and, consequently, a proper course of clinical management for the person harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence of lipomas in this patient and his family could be related to this syndrome. Further investigation may provide a possible visual clue that can indicate a need for genetic screening. Fil: Giannoni, Ana Paula. Centro Médico de Cirugía Famyl. Clínica Centro; Argentina. Fil: Sevic, Ina. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones Básicas y Aplicadas. Laboratorio de Microambiente Tumoral; Argentina. Fil: Sevic, Ina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina. Fil: Parenti, Fernanda. Centro Médico de Cirugía Famyl. Clínica Centro; Argentina. Fil: Alaniz, Laura. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones Básicas y Aplicadas. Laboratorio de Microambiente Tumoral; Argentina. Fil: Alaniz, Laura. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina. Con referato 2023-12-18T19:16:47Z 2023-12-18T19:16:47Z 2023-04-07 info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article info:ar-repo/semantics/artículo info:eu-repo/semantics/publishedVersion Giannoni AP, Sevic I, Parenti F, y Alaniz L. (2023). Una nueva variante del gen MSH6 en un paciente con síndrome de Lynch y lipomas. Clínicas y Práctica, 13(2),515-519. 2039-7283 http://repositorio.unnoba.edu.ar/xmlui/handle/23601/666 eng eu-repo/grantAgreement/ ANPCyT/PICTO/2019-00011 eu-repo/grantAgreement/UNNOBA/SIB 2019/0561-2019 https://doi.org/10.3390/clinpract13020047 info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ application/pdf application/pdf Clinics and practice
institution Universidad Nacional del Noroeste de la Provincia de Buenos Aires
institution_str I-103
repository_str R-405
collection Re DI Repositorio Digital UNNOBA
language Inglés
topic MSH6
Lynch syndrome
Lipomas
Genetic screening
Cancer risk
spellingShingle MSH6
Lynch syndrome
Lipomas
Genetic screening
Cancer risk
Giannoni, Ana Paula
Sevic, Ina
Parenti, Fernanda
Alaniz, Laura
A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
topic_facet MSH6
Lynch syndrome
Lipomas
Genetic screening
Cancer risk
description Colorectal cancer is one of the most frequently occurring cancers today, with a large percentage of cases having a hereditary basis. Lynch syndrome is the most common cause of hereditary colorectal cancer. The genetic defect characteristics of this syndrome involve mutations in mismatch repair (MMR) genes, which result in microsatellite instability. Early detection of the mutation can help evaluate the cancer risk and, consequently, a proper course of clinical management for the person harboring the mutation. Herein, we describe the first report of a c.1458dup (p.Glu487*) new mutation in a 53-year-old colorectal cancer patient with diagnosed Lynch syndrome. Additionally, the existence of lipomas in this patient and his family could be related to this syndrome. Further investigation may provide a possible visual clue that can indicate a need for genetic screening.
format Artículo
Artículo
publishedVersion
Artículo
Artículo
publishedVersion
Artículo
Artículo
publishedVersion
author Giannoni, Ana Paula
Sevic, Ina
Parenti, Fernanda
Alaniz, Laura
author_facet Giannoni, Ana Paula
Sevic, Ina
Parenti, Fernanda
Alaniz, Laura
author_sort Giannoni, Ana Paula
title A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title_short A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title_full A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title_fullStr A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title_full_unstemmed A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title_sort novel msh6 gene variant in a lynch syndrome patient with lipomas
publishDate 2023
url http://repositorio.unnoba.edu.ar/xmlui/handle/23601/666
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