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.