Session # P-030

Importance of accurate EPCAM deletion characterization to prevent misdiagnosis of Lynch syndrome

Take home points:  

1. Standard EPCAM deletion assessment via MLPA lacks precision and does not differentiate whole and partial deletions.  

2. Patients with whole vs partial EPCAM deletions have a different clinical presentation. 

3. Study underscores reevaluation of EPCAM to determine deletion size for accurate Lynch syndrome diagnosis. 

• Authors: Carolyn Horton; Rebecca Mar-Heyming; Felicia Hernandez; Ashley P.L. Marsh; Steven Harrison; Jessica Grzybowski; Marcy E. Richardson; Daniel Kostecki; Christopher Lau; Elizabeth Chao; Heather Hampel
• Conference: CGA-IGC 2023
• Date: Thursday, Oct 26, 2023 8:00am - 1:30pm