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

Autores
Giannoni, Ana Paula; Sevic, Ina; Parenti, Fernanda; Alaniz, Laura Daniela
Año de publicación
2023
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
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. No especifíca;
Fil: Sevic, Ina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina
Fil: Parenti, Fernanda. No especifíca;
Fil: Alaniz, Laura Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina
Materia
CANCER RISK
GENETIC SCREENING
LIPOMAS
LYNCH SYNDROME
MSH6
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/219796
Acceder
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network_name_str CONICET Digital (CONICET)
spelling A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with LipomasGiannoni, Ana PaulaSevic, InaParenti, FernandaAlaniz, Laura DanielaCANCER RISKGENETIC SCREENINGLIPOMASLYNCH SYNDROMEMSH6https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Colorectal 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. No especifíca;Fil: Sevic, Ina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; ArgentinaFil: Parenti, Fernanda. No especifíca;Fil: Alaniz, Laura Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; ArgentinaMDPI2023-04info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/219796Giannoni, Ana Paula; Sevic, Ina; Parenti, Fernanda; Alaniz, Laura Daniela; A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas; MDPI; Clinics and Practice; 13; 2; 4-2023; 515-5192039-7283CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2039-7283/13/2/47info:eu-repo/semantics/altIdentifier/doi/10.3390/clinpract13020047info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:10:36Zoai:ri.conicet.gov.ar:11336/219796instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:10:36.419CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
title A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
spellingShingle A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
Giannoni, Ana Paula
CANCER RISK
GENETIC SCREENING
LIPOMAS
LYNCH SYNDROME
MSH6
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 A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas
dc.creator.none.fl_str_mv Giannoni, Ana Paula
Sevic, Ina
Parenti, Fernanda
Alaniz, Laura Daniela
author Giannoni, Ana Paula
author_facet Giannoni, Ana Paula
Sevic, Ina
Parenti, Fernanda
Alaniz, Laura Daniela
author_role author
author2 Sevic, Ina
Parenti, Fernanda
Alaniz, Laura Daniela
author2_role author
author
author
dc.subject.none.fl_str_mv CANCER RISK
GENETIC SCREENING
LIPOMAS
LYNCH SYNDROME
MSH6
topic CANCER RISK
GENETIC SCREENING
LIPOMAS
LYNCH SYNDROME
MSH6
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv 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. No especifíca;
Fil: Sevic, Ina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina
Fil: Parenti, Fernanda. No especifíca;
Fil: Alaniz, Laura Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires. Universidad Nacional del Noroeste de la Provincia de Buenos Aires. Centro de Investigaciones y Transferencia del Noroeste de la Provincia de Buenos Aires; Argentina
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.
publishDate 2023
dc.date.none.fl_str_mv 2023-04
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/219796
Giannoni, Ana Paula; Sevic, Ina; Parenti, Fernanda; Alaniz, Laura Daniela; A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas; MDPI; Clinics and Practice; 13; 2; 4-2023; 515-519
2039-7283
CONICET Digital
CONICET
url http://hdl.handle.net/11336/219796
identifier_str_mv Giannoni, Ana Paula; Sevic, Ina; Parenti, Fernanda; Alaniz, Laura Daniela; A Novel MSH6 Gene Variant in a Lynch Syndrome Patient with Lipomas; MDPI; Clinics and Practice; 13; 2; 4-2023; 515-519
2039-7283
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.mdpi.com/2039-7283/13/2/47
info:eu-repo/semantics/altIdentifier/doi/10.3390/clinpract13020047
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.13397

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