[New hereditary polyposis syndromes in the patient with intestinal polyps].
Ugeskr Laeger
; 183(38)2021 09 20.
Article
em Da
| MEDLINE
| ID: mdl-34596519
ABSTRACT
Hereditary polyposis syndromes (HPS) are a group of rare, inherited syndromes characterised by the presence of histopathological specific or numerous intestinal polyps and a high risk of intestinal and extraintestinal cancer. During the last decade, several new HPS have been discovered, as it is possible to detect pathogenic germline variants in genes not previously known to be associated with polyposis. This review summarises the current knowledge on the syndromes and discusses genetic testing as part of the diagnostic pipeline when suspecting a polyposis syndrome.
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Base de dados:
MEDLINE
Assunto principal:
Síndromes Neoplásicas Hereditárias
/
Neoplasias Colorretais
/
Neoplasias Nasofaríngeas
/
Polipose Intestinal
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
Da
Revista:
Ugeskr Laeger
Ano de publicação:
2021
Tipo de documento:
Article