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RNA analysis and long read sequencing identify causative APC complex rearrangement in unsolved FAP case

Date:
Thursday, Mar 20, 2025 10:30am – 11:30am
Conference:
ACMG 2025
Authors:
Abbey Jamison, Colin Young, PhD, Marcy E. Richardson, Rachid Karam, PhD, Sami Belhadj, Victoria Ellis

Presenting Author: Sami Belhadj, PhD

Take home points: 

  1. This FAP case highlights how newer technologies such as RNA sequencing and long read sequencing can identify causative variants in unsolved hereditary cancer cases.
  2. Updated testing with RNA sequencing is warranted in undiagnosed cases with high suspicion of hereditary predisposition.
Abstract Poster