DICER1
Associated conditions:
- Endocrine cancer
- Gynaecologic cancer
- Nervous system/brain cancer
- Renal/urinary tract cancer
- Sarcoma
DICER1 makes a molecular scissors enzyme that trims small RNA molecules used to fine-tune which genes switch on and off. Genetic changes in this gene are associated with an autosomal dominant condition called DICER1 syndrome, which raises the chance of usually rare tumours in the lung, kidney, ovaries and thyroid, mostly in childhood. Knowing your genetic status enables early monitoring and treatment.
Conditions linked to DICER1
Endocrine cancer
Endocrine cancers affect hormone-producing glands such as the thyroid, parathyroid, adrenal glands or pancreatic islet cells. Inherited variants can drive tumours in one or more of these glands, so awareness supports periodic hormone testing and imaging to catch changes early.
Gynaecologic cancer
Gynaecologic cancers include ovarian, uterine (endometrial) and related cancers. Inherited variants can raise the risk of one or more of these, so knowing your status guides screening discussions and risk-reducing options such as surgery after childbearing.
Nervous system/brain cancer
Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
Sarcoma
Sarcomas are cancers of connective tissues such as bone, muscle, fat and cartilage. Certain inherited syndromes raise their risk, so awareness supports prompt assessment of unexplained lumps or bone pain and, in some syndromes, imaging surveillance.
