Presenting Author: Katherine L. Belshe, MS, CGC from the University of Kansas
Take home points:
- APC whole-gene deletions are incidentally identified in pan-cancer-panel-tested individuals but are most often reported as mosaic.
- Mosaic APC whole-gene deletions were older than heterozygous individuals and had a cancer history that was distinct from FAP.
- Breakpoint analysis revealed that the size of the deletion was highly variable in the mosaic cohort while the heterozygous cohort had on average a smaller deletions
- Speakers: Katherine L. Belshe; Jordyn Koehn; Alisdair Philp; Bryson Katona; Stephen Hyter; Rashna Madan; Barry Skikne; Abdulraheem Yacoub; Andrew K. Godwin; Marcy E. Richardson; Cassidy Carraway; Jeffrey N. Weitzel; Ajay Bansal
- Collaborators: Perelman School of Medicine at the University of Pennsylvania; University of Kansas Cancer Center
- Conference:
CGA-IGC 2025
- Date: Saturday, Oct 11, 2025 1:30pm - 3:00pm