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Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer

PURPOSE: Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the APC and other polyposis genes, suggesting additional pathomechanisms. METHODS: We applied multidimensional genomic analysis employing chromosomal microarr...

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Detalles Bibliográficos
Autores principales: Scharf, Florentine, Leal Silva, Rafaela Magalhaes, Morak, Monika, Hastie, Alex, Pickl, Julia M A, Sendelbach, Kai, Gebhard, Christian, Locher, Melanie, Laner, Andreas, Steinke-Lange, Verena, Koehler, Udo, Holinski-Feder, Elke, Wolf, Dieter A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554066/
https://www.ncbi.nlm.nih.gov/pubmed/34911816
http://dx.doi.org/10.1136/jmedgenet-2021-108147