Your browser doesn't support javascript.
loading
Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.
Jelsig, Anne Marie; Byrjalsen, Anna; Busk Madsen, Majbritt; Kuhlmann, Tine Plato; van Overeem Hansen, Thomas; Wadt, Karin A W; Karstensen, John Gásdal.
Afiliação
  • Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Byrjalsen A; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Busk Madsen M; Center for Genomic Medicine, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Kuhlmann TP; Department of Pathology, University Hospital of Copenhagen, Herlev Hospital, Herlev, Denmark.
  • van Overeem Hansen T; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Wadt KAW; Department of Clinical Genetics, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Karstensen JG; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Appl Clin Genet ; 14: 455-466, 2021.
Article em En | MEDLINE | ID: mdl-34866929
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.
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Appl Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Etiology_studies Idioma: En Revista: Appl Clin Genet Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Dinamarca