What is the DICER1 gene?

Everyone inherits two copies of the DICER1 [glossary term:] geneAn abnormal mass of tissue that results when cells divide more than they should or do not die when they should. Tumors may be benign (not cancer), or malignant (cancer). Also called neoplasm. 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).

Conditions other than cancer, such as [glossary term:] Multinodular goiterGoiter is a term used to describe any enlargement of the thyroid gland, which can be caused by iodine deficiency or a thyroid disorder. A multinodular goiter contains multiple distinct nodules within the goiter, but its cause is less clear. Sometimes this condition can be caused by certain genetic factors., 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.