The 'unnatural' history of colorectal cancer in Lynch syndrome: Lessons from colonoscopy surveillance

Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent stud...

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Detalles Bibliográficos
Autores: Ahadova, Aysel, Seppälä, Toni T., Engel, Christoph, Gallon, Richard, Burn, John, Holinski Feder, Elke, Steinke-Lange, Verena, Möslein, Gabriela, Nielsen, Maartje, Ten Broeke, Sanne W., Laghi, Luigi, Dominguez Valentin, Mev, Capellá, G. (Gabriel), Macrae, Finlay, Scott, Rodney J., Hüneburg, Robert, Nattermann, Jacob, Hoffmeister, Michael, Brenner, Hermann, Bläker, Hendrik, von Knebel Doeberitz, Magnus, Sampson, Julian R., Vasen, Hans, Mecklin, Jukka-Pekka, Møller, Pål, Kloor, Matthias
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2021
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/175251
Acceso en línea:https://hdl.handle.net/2445/175251
Access Level:acceso abierto
Palabra clave:Càncer colorectal
Colonoscòpia
Colorectal cancer
Colonoscopy
Descripción
Sumario:Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy. The reasons for this surprising observation confirmed by large prospective studies are a matter of debate. In this review, we collect existing evidence from clinical, epidemiological and molecular studies and interpret them with regard to the origins and progression of LS-associated CRC. Alongside with hypotheses addressing colonoscopy quality and pace of progression from adenoma to cancer, we discuss the role of alternative precursors and immune system in LS-associated CRC. We also identify gaps in current knowledge and make suggestions for future studies aiming at improved CRC prevention for LS individuals.