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

Conclusions
Based on comprehensive genomic analysis, we propose that constitutional chromothripsis dampening APC expression, possibly modified by additional APC–Axin–GSK3B–β-catenin pathway disruptions, underlies the patient’s clinical phenotype. The combinatorial approach we deployed provides a powerful tool set for deciphering unsolved familial polyposis and potentially other tumour syndromes and monogenic diseases.

Source: Journal of Medical Genetics - September 26, 2022 Category: Genetics & Stem Cells Authors: Scharf, F., Leal Silva, R. M., Morak, M., Hastie, A., Pickl, J. M. A., Sendelbach, K., Gebhard, C., Locher, M., Laner, A., Steinke-Lange, V., Koehler, U., Holinski-Feder, E., Wolf, D. A. Tags: Open access Chromosomal rearrangements Source Type: research