Pathogenic variants (disease-causing) in the DICER1 gene are associated with DICER1 tumor predisposition syndrome. This condition increases the risk of developing a variety of rare tumors, most notably pleuropulmonary blastoma (lung cancer) in children. Other associated tumors include cystic nephroma (kidney tumor), ovarian sex cord-stromal tumors (such as Sertoli-Leydig cell tumors), thyroid tumors, and certain brain tumors (e.g., pineoblastoma). The spectrum is broad, and individuals with pathogenic variants in DICER1 may develop multiple tumor types across their lifetime. Management of DICER1–related tumor risk includes regular surveillance tailored to guidelines to detect tumors early. DICER1 variants are not known to be more common in the Ashkenazi Jewish population.
Pathogenic variants in DICER1 exhibit autosomal dominant inheritance. This means there is a 50% chance the condition can be passed from generation-to-generation. First degree relatives (parents, siblings, children) have a 50% chance to have the same pathogenic variant whereas second degree relatives (grandparents, aunts/uncles, nieces/nephews, half-siblings) have a 25% chance. More distant relatives have lower chances of having the same pathogenic variant when one is identified in the family.
Resources:
The International PPB/DICER1 Registry
Written December 2025
