Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis

Simple Summary: Familiarity with nonmalignant features and comorbidities of cancer predisposition syndromes may raise awareness and assist clinicians in the diagnosis and interpretation of molecular test results. Genetic predisposition to colorectal cancer (CRC) should be suspected mainly in young p...

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Autores: Haimov, Diana, Lieberman, Sari, Castellví Bel, Sergi, Nielsen, Maartje, Goldberg, Yael
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2022
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:2445/201465
Acceso en línea:https://hdl.handle.net/2445/201465
Access Level:acceso abierto
Palabra clave:Càncer colorectal
Malalties hereditàries
Diagnòstic
Colorectal cancer
Genetic diseases
Diagnosis
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spelling Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for DiagnosisHaimov, DianaLieberman, SariCastellví Bel, SergiNielsen, MaartjeGoldberg, YaelCàncer colorectalMalalties hereditàriesDiagnòsticColorectal cancerGenetic diseasesDiagnosisSimple Summary: Familiarity with nonmalignant features and comorbidities of cancer predisposition syndromes may raise awareness and assist clinicians in the diagnosis and interpretation of molecular test results. Genetic predisposition to colorectal cancer (CRC) should be suspected mainly in young patients, in patients with significant family histories, multiple polyps, mismatch repair-deficient tumors, and in association with malignant or nonmalignant comorbidities. The aim of this review is to describe the main nonmalignant comorbidities associated with selected CRC predisposition syndromes that may serve as valuable diagnostic clues for clinicians and genetic professionals.& nbsp;Genetic diagnosis of affected individuals and predictive testing of their at-risk relatives, combined with intensive cancer surveillance, has an enormous cancer-preventive potential in these families. A lack of awareness may be part of the reason why the underlying germline cause remains unexplained in a large proportion of patients with CRC. Various extracolonic features, mainly dermatologic, ophthalmic, dental, endocrine, vascular, and reproductive manifestations occur in many of the cancer predisposition syndromes associated with CRC and polyposis. Some are mediated via the WNT, TGF-beta, or mTOR pathways. However the pathogenesis of most features is still obscure. Here we review the extracolonic features of the main syndromes, the existing information regarding their prevalence, and the pathways involved in their pathogenesis. This knowledge could be useful for care managers from different professional disciplines, and used to raise awareness, enable diagnosis, and assist in the process of genetic testing and interpretation.MDPI2023202320222023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion21 p.application/pdfhttps://hdl.handle.net/2445/201465Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)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/cancers14030628Cancers, 2022, vol. 14, num. 3, p. 628https://doi.org/10.3390/cancers14030628cc by (c) Haimov, Diana et al., 2022http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2014652026-05-29T05:05:01Z
dc.title.none.fl_str_mv Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
title Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
spellingShingle Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
Haimov, Diana
Càncer colorectal
Malalties hereditàries
Diagnòstic
Colorectal cancer
Genetic diseases
Diagnosis
title_short Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
title_full Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
title_fullStr Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
title_full_unstemmed Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
title_sort Nonmalignant Features Associated with Inherited Colorectal Cancer Syndromes-Clues for Diagnosis
dc.creator.none.fl_str_mv Haimov, Diana
Lieberman, Sari
Castellví Bel, Sergi
Nielsen, Maartje
Goldberg, Yael
author Haimov, Diana
author_facet Haimov, Diana
Lieberman, Sari
Castellví Bel, Sergi
Nielsen, Maartje
Goldberg, Yael
author_role author
author2 Lieberman, Sari
Castellví Bel, Sergi
Nielsen, Maartje
Goldberg, Yael
author2_role author
author
author
author
dc.subject.none.fl_str_mv Càncer colorectal
Malalties hereditàries
Diagnòstic
Colorectal cancer
Genetic diseases
Diagnosis
topic Càncer colorectal
Malalties hereditàries
Diagnòstic
Colorectal cancer
Genetic diseases
Diagnosis
description Simple Summary: Familiarity with nonmalignant features and comorbidities of cancer predisposition syndromes may raise awareness and assist clinicians in the diagnosis and interpretation of molecular test results. Genetic predisposition to colorectal cancer (CRC) should be suspected mainly in young patients, in patients with significant family histories, multiple polyps, mismatch repair-deficient tumors, and in association with malignant or nonmalignant comorbidities. The aim of this review is to describe the main nonmalignant comorbidities associated with selected CRC predisposition syndromes that may serve as valuable diagnostic clues for clinicians and genetic professionals.& nbsp;Genetic diagnosis of affected individuals and predictive testing of their at-risk relatives, combined with intensive cancer surveillance, has an enormous cancer-preventive potential in these families. A lack of awareness may be part of the reason why the underlying germline cause remains unexplained in a large proportion of patients with CRC. Various extracolonic features, mainly dermatologic, ophthalmic, dental, endocrine, vascular, and reproductive manifestations occur in many of the cancer predisposition syndromes associated with CRC and polyposis. Some are mediated via the WNT, TGF-beta, or mTOR pathways. However the pathogenesis of most features is still obscure. Here we review the extracolonic features of the main syndromes, the existing information regarding their prevalence, and the pathways involved in their pathogenesis. This knowledge could be useful for care managers from different professional disciplines, and used to raise awareness, enable diagnosis, and assist in the process of genetic testing and interpretation.
publishDate 2022
dc.date.none.fl_str_mv 2022
2023
2023
2023
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/2445/201465
url https://hdl.handle.net/2445/201465
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/cancers14030628
Cancers, 2022, vol. 14, num. 3, p. 628
https://doi.org/10.3390/cancers14030628
dc.rights.none.fl_str_mv cc by (c) Haimov, Diana et al., 2022
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Haimov, Diana et al., 2022
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 21 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 (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
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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