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

Journal of Medical Genetics 2021
Scharf F, et al.

Florentine Scharf, Rafaela Magalhaes Leal Silva, Monika Morak, Alex Hastie, Julia M A Pickl, Kai Sendelbach, Christian Gebhard, Melanie Locher, Andreas Laner, Verena Steinke-Lange, Udo Koehler, Elke Holinski-Feder, Dieter A Wolf

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.

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