The Inherited and Familial Component of Early-Onset Colorectal Cancer

Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such i...

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Autores: Daca-Alvarez, Maria, Quintana, Isabel, Terradas, Mariona, Mur, Pilar, Balaguer Prunés, Francesc, Valle, Laura
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/176248
Acceso en línea:https://hdl.handle.net/2445/176248
Access Level:acceso abierto
Palabra clave:Càncer colorectal
Carcinogènesi
Colorectal cancer
Carcinogenesis
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spelling The Inherited and Familial Component of Early-Onset Colorectal CancerDaca-Alvarez, MariaQuintana, IsabelTerradas, MarionaMur, PilarBalaguer Prunés, FrancescValle, LauraCàncer colorectalCarcinogènesiColorectal cancerCarcinogenesisEarly-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, ≈13% (range: 9-26%) of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% of patients with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. Approximately 28% of EOCRC patients have family history of the disease. This article recapitulates current evidence on the inherited syndromes that predispose to EOCRC and its familial component. The evidence gathered support that all patients diagnosed with an EOCRC should be referred to a specialized genetic counseling service and offered somatic and germline pancancer multigene panel testing. The identification of a germline pathogenic variant in a known hereditary cancer gene has relevant implications for the clinical management of the patient and his/her relatives, and it may guide surgical and therapeutic decisions. The relative high prevalence of hereditary cancer syndromes and familial component among EOCRC patients supports further research that helps understand the genetic background, either monogenic or polygenic, behind this increasingly common disease.MDPI2021202120212021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion19 p.application/pdfhttps://hdl.handle.net/2445/176248Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.3390/cells10030710Cells, 2021, vol. 10, num. 3https://doi.org/10.3390/cells10030710cc by (c) Daca Alvarez et al., 2021http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/1762482026-05-29T05:05:01Z
dc.title.none.fl_str_mv The Inherited and Familial Component of Early-Onset Colorectal Cancer
title The Inherited and Familial Component of Early-Onset Colorectal Cancer
spellingShingle The Inherited and Familial Component of Early-Onset Colorectal Cancer
Daca-Alvarez, Maria
Càncer colorectal
Carcinogènesi
Colorectal cancer
Carcinogenesis
title_short The Inherited and Familial Component of Early-Onset Colorectal Cancer
title_full The Inherited and Familial Component of Early-Onset Colorectal Cancer
title_fullStr The Inherited and Familial Component of Early-Onset Colorectal Cancer
title_full_unstemmed The Inherited and Familial Component of Early-Onset Colorectal Cancer
title_sort The Inherited and Familial Component of Early-Onset Colorectal Cancer
dc.creator.none.fl_str_mv Daca-Alvarez, Maria
Quintana, Isabel
Terradas, Mariona
Mur, Pilar
Balaguer Prunés, Francesc
Valle, Laura
author Daca-Alvarez, Maria
author_facet Daca-Alvarez, Maria
Quintana, Isabel
Terradas, Mariona
Mur, Pilar
Balaguer Prunés, Francesc
Valle, Laura
author_role author
author2 Quintana, Isabel
Terradas, Mariona
Mur, Pilar
Balaguer Prunés, Francesc
Valle, Laura
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Càncer colorectal
Carcinogènesi
Colorectal cancer
Carcinogenesis
topic Càncer colorectal
Carcinogènesi
Colorectal cancer
Carcinogenesis
description Early-onset colorectal cancer (EOCRC), defined as that diagnosed before the age of 50, accounts for 10-12% of all new colorectal cancer (CRC) diagnoses. Epidemiological data indicate that EOCRC incidence is increasing, despite the observed heterogeneity among countries. Although the cause for such increase remains obscure, ≈13% (range: 9-26%) of EOCRC patients carry pathogenic germline variants in known cancer predisposition genes, including 2.5% of patients with germline pathogenic variants in hereditary cancer genes traditionally not associated with CRC predisposition. Approximately 28% of EOCRC patients have family history of the disease. This article recapitulates current evidence on the inherited syndromes that predispose to EOCRC and its familial component. The evidence gathered support that all patients diagnosed with an EOCRC should be referred to a specialized genetic counseling service and offered somatic and germline pancancer multigene panel testing. The identification of a germline pathogenic variant in a known hereditary cancer gene has relevant implications for the clinical management of the patient and his/her relatives, and it may guide surgical and therapeutic decisions. The relative high prevalence of hereditary cancer syndromes and familial component among EOCRC patients supports further research that helps understand the genetic background, either monogenic or polygenic, behind this increasingly common disease.
publishDate 2021
dc.date.none.fl_str_mv 2021
2021
2021
2021
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/176248
url https://hdl.handle.net/2445/176248
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3390/cells10030710
Cells, 2021, vol. 10, num. 3
https://doi.org/10.3390/cells10030710
dc.rights.none.fl_str_mv cc by (c) Daca Alvarez et al., 2021
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Daca Alvarez et al., 2021
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 19 p.
application/pdf
dc.publisher.none.fl_str_mv MDPI
publisher.none.fl_str_mv MDPI
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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