Enhancing clinical relevance in hereditary cancer panels: An evidence-based approach for DICER1 & SMARCA4

Presenting Author: Elyse Ryan, MS, CGC

Take home points: 

1. DICER1 and SMARCA4 have known associations with rare types of ovarian tumors but historically, positive findings in these genes were often incidental – meaning they did not explain the personal or family history that led to patient testing.
2. The lack of utility on breast & gynecological cancer panels supports their inclusion only on panels specifically designed for rare or expanded phenotype panels.