The DICER1 gene
Everyone inherits two copies of the DICER1 [glossary term:] gene from their parents, one from their mother and one from their father. This gene works to manage the function of other genes. In most people, this gene works properly. In very few people, one or both copies of the gene has changes in the DNA letters that make up the DICER1 gene that affect its function. Sometimes those changes result in tumors or other health problems. However, not everyone who has these genetic changes experiences a health problem.
A syndrome is a set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. Inherited changes, or mutations, in the DICER1 gene can result in a variety of rare tumors. We refer to this set of tumors as the DICER1 syndrome. Some of these tumors are benign (non-cancerous) growths while others are malignant (cancerous). The tumors related to DICER1 include:
- pleuropulmonary blastoma (PPB)
- cystic nephroma
- nasal chondromesenchymal hamartoma
- ovarian Sertoli-Leydig cell, and other sex cord-stromal tumors
- ocular medulloepithelioma
- Wilms tumor of the kidney
- embryonal rhabdomyosarcoma
- pineoblastoma
Conditions other than cancer, such as [glossary term:] multinodular goiter, have also been seen in individuals with changes in the DICER1 gene. This study may identify other tumors or conditions associated with the DICER1 syndrome.
How can I join?
All individuals with PPB or related tumors and conditions and their family members are encouraged to participate.
Phone: 1-800-518-8474 to speak with a member of our research team
Email: NCIFamilyStudyReferrals@nih.gov