Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

Anne Marie Jelsig,1 Anna Byrjalsen,1 Majbritt Busk Madsen,2 Tine Plato Kuhlmann,3 Thomas van Overeem Hansen,1 Karin AW Wadt,1,4 John Gásdal Karstensen4,5 1Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark; 2Center for Genomic Medicine, University Hospital of Cop...

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Autores principales:	Jelsig AM, Byrjalsen A, Busk Madsen M, Kuhlmann TP, van Overeem Hansen T, Wadt KAW, Karstensen JG
Formato:	article
Lenguaje:	EN
Publicado:	Dove Medical Press 2021
Materias:	polyposis hereditary familial adenomatous polyposis cancer management Medicine (General) R5-920 Genetics QH426-470
Acceso en línea:	https://doaj.org/article/541d824162694bf7bc61e338250c3420
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spelling	oai:doaj.org-article:541d824162694bf7bc61e338250c34202021-11-28T19:13:10ZNovel Genetic Causes of Gastrointestinal Polyposis Syndromes1178-704Xhttps://doaj.org/article/541d824162694bf7bc61e338250c34202021-11-01T00:00:00Zhttps://www.dovepress.com/novel-genetic-causes-of-gastrointestinal-polyposis-syndromes-peer-reviewed-fulltext-article-TACGhttps://doaj.org/toc/1178-704XAnne Marie Jelsig,1 Anna Byrjalsen,1 Majbritt Busk Madsen,2 Tine Plato Kuhlmann,3 Thomas van Overeem Hansen,1 Karin AW Wadt,1,4 John Gásdal Karstensen4,5 1Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark; 2Center for Genomic Medicine, University Hospital of Copenhagen, Copenhagen, Denmark; 3Department of Pathology, University Hospital of Copenhagen, Herlev Hospital, Herlev, Denmark; 4Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; 5Danish Polyposis Registry, Gastro Unit, Copenhagen University Hospital – Amager and Hvidovre, Copenhagen, DenmarkCorrespondence: Anne Marie JelsigDepartment of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, 2100, DenmarkTel +45 20 36 18 85Email anne.marie.jelsig@regionh.dkAbstract: Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient’s family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10– 12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.Keywords: polyposis, hereditary, familial adenomatous polyposis, cancer, managementJelsig AMByrjalsen ABusk Madsen MKuhlmann TPvan Overeem Hansen TWadt KAWKarstensen JGDove Medical Pressarticlepolyposishereditaryfamilial adenomatous polyposiscancer managementMedicine (General)R5-920GeneticsQH426-470ENThe Application of Clinical Genetics, Vol Volume 14, Pp 455-466 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	polyposis hereditary familial adenomatous polyposis cancer management Medicine (General) R5-920 Genetics QH426-470
spellingShingle	polyposis hereditary familial adenomatous polyposis cancer management Medicine (General) R5-920 Genetics QH426-470 Jelsig AM Byrjalsen A Busk Madsen M Kuhlmann TP van Overeem Hansen T Wadt KAW Karstensen JG Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
description	Anne Marie Jelsig,1 Anna Byrjalsen,1 Majbritt Busk Madsen,2 Tine Plato Kuhlmann,3 Thomas van Overeem Hansen,1 Karin AW Wadt,1,4 John Gásdal Karstensen4,5 1Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark; 2Center for Genomic Medicine, University Hospital of Copenhagen, Copenhagen, Denmark; 3Department of Pathology, University Hospital of Copenhagen, Herlev Hospital, Herlev, Denmark; 4Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; 5Danish Polyposis Registry, Gastro Unit, Copenhagen University Hospital – Amager and Hvidovre, Copenhagen, DenmarkCorrespondence: Anne Marie JelsigDepartment of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, Copenhagen, 2100, DenmarkTel +45 20 36 18 85Email anne.marie.jelsig@regionh.dkAbstract: Hereditary polyposis syndromes are characterized by a large number and/or histopathologically specific polyps in the gastrointestinal tract and a high risk of both colorectal cancer and extracolonic cancer at an early age. While the genes responsible for some of the syndromes, eg, APC in familial adenomatous polyposis and STK11 in Peutz-Jeghers syndrome, have been known for decades, novel genetic causes have recently been detected that have shed light on the broader clinical spectrum of syndromes. Genetic diagnoses are important because they can facilitate a personalized surveillance program. Furthermore, at-risk members of the patient’s family can be tested and enrolled in surveillance as needed. In some cases, prenatal diagnostics should be offered. In this paper, we describe the development in germline genetics of the hereditary polyposis syndromes over the last 10– 12 years, their clinical characteristics, as well as how to implement genetic analyses in the diagnostic pipeline.Keywords: polyposis, hereditary, familial adenomatous polyposis, cancer, management
format	article
author	Jelsig AM Byrjalsen A Busk Madsen M Kuhlmann TP van Overeem Hansen T Wadt KAW Karstensen JG
author_facet	Jelsig AM Byrjalsen A Busk Madsen M Kuhlmann TP van Overeem Hansen T Wadt KAW Karstensen JG
author_sort	Jelsig AM
title	Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
title_short	Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
title_full	Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
title_fullStr	Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
title_full_unstemmed	Novel Genetic Causes of Gastrointestinal Polyposis Syndromes
title_sort	novel genetic causes of gastrointestinal polyposis syndromes
publisher	Dove Medical Press
publishDate	2021
url	https://doaj.org/article/541d824162694bf7bc61e338250c3420
work_keys_str_mv	AT jelsigam novelgeneticcausesofgastrointestinalpolyposissyndromes AT byrjalsena novelgeneticcausesofgastrointestinalpolyposissyndromes AT buskmadsenm novelgeneticcausesofgastrointestinalpolyposissyndromes AT kuhlmanntp novelgeneticcausesofgastrointestinalpolyposissyndromes AT vanovereemhansent novelgeneticcausesofgastrointestinalpolyposissyndromes AT wadtkaw novelgeneticcausesofgastrointestinalpolyposissyndromes AT karstensenjg novelgeneticcausesofgastrointestinalpolyposissyndromes
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Novel Genetic Causes of Gastrointestinal Polyposis Syndromes

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