DICER1 gene - Cancer risk, management, and testing for genetic mutations

Associated Syndrome Name: DICER1 tumor predisposition

DICER1 Summary Cancer Risk Table

Cancer Genetic Cancer Risk
EndocrineHigh Risk
LungHigh Risk
OvarianHigh Risk
OtherElevated Risk
RenalElevated Risk

DICER1 gene Overview

DICER1 tumor predisposition 1, 2, 3, 4
  • Individuals with DICER1 mutations have DICER1 tumor predisposition.
  • Individuals assigned female sex at birth with DICER1 mutations have a high risk for ovarian cancer, particularly for a subtype called Sertoli-Leydig ovarian cell tumor (SLCT). Most are diagnosed before age 40.
  • Individuals with DICER1 mutations have a high risk for lung cysts and lung cancer, particularly for a subtype called pleuropulmonary blastoma (PPB). Symptoms may include difficulty breathing and typically present in early childhood.
  • Individuals with DICER1 mutations have a high risk for thyroid-related conditions, including goiter, nodules, and cancer.
  • Individuals with DICER1 mutations have an elevated risk for tumors of the kidney, most of which are benign and occur in childhood.
  • Other clinical features and tumors have been observed in individuals with DICER1 mutations, including tumors of the central nervous system, head and neck, and soft tissue. However, further studies are needed to determine if these are conclusively associated with DICER1 mutations.
  • Although there are increased risks for cancer in individuals with DICER1 mutations, there are interventions that may reduce these risks. Guidelines from the American Association for Cancer Research (AACR) are listed below. Since information about the cancer risks associated with DICER1 mutations is relatively new, and there is still some uncertainty about the best ways to reduce these risks, it may be appropriate to interpret these results in consultation with cancer genetics experts in this emerging area of knowledge.

DICER1 gene Cancer Risk Table

Cancer Type Age Range Cancer Risk Risk for General Population
OvarianTo age 502, 57%0.2%
LungTo age 52, 518%<0.1%
ThyroidTo age 803, 516%1.1%
RenalTo age 805Elevated risk1.4%
Other - Non-malignant features of DICER1 tumor predispositionAll agesDICER1 tumor predisposition is associated with non-malignant clinical features, some of which may require medical intervention in early childhood.NA

DICER1 Cancer Risk Management Table

The overview of medical management options provided is a summary of professional society guidelines. The most recent version of each guideline should be consulted for more detailed and up-to-date information before developing a treatment plan for a particular patient.

This overview is provided for informational purposes only and does not constitute a recommendation. While the medical society guidelines summarized herein provide important and useful information, medical management decisions for any particular patient should be made in consultation between that patient and his or her healthcare provider and may differ from society guidelines based on a complete understanding of the patient’s personal medical history, surgeries and other treatments.

Cancer Type Procedure Age to Begin Frequency
(Unless otherwise indicated by findings)
OvarianPelvic ultrasound4From birthEvery 6 months until at least age 40
LungChest X-ray4From birthEvery 6 months until age 8. Every 12 months until age 12.
Consider chest CT4Once at 3 months and 2.5 yearsNA
ThyroidThyroid ultrasound48 yearsEvery 3 years
RenalAbdominal ultrasound4From birthEvery 6 months until age 8. Every 12 months until age 12.
Other - Non-malignant features of DICER1 tumor predispositionMonitor for symptoms. Additional screenings recommended, including physical, neurological, and eye exams.4VariesAnnually

Benefits of Testing for DICER1 Gene Mutations:

Testing for DICER1 gene mutations with the MyRisk® Hereditary Cancer Test with RiskScore® provides critical insights to patients and providers about potential hereditary cancer risk. Identifying a DICER1 gene mutation can help clarify whether a patient is at increased risk for certain cancers and guide proactive, personalized care planning. With definitive answers from the MyRisk Test, healthcare providers can better tailor screening, prevention, and management strategies, while patients gain clarity and confidence about their hereditary cancer risk. In addition, understanding a DICER1 gene mutation allows family members to consider their own hereditary cancer risk, supporting informed decision-making and potentially life-saving early interventions. Learn more about the MyRisk® with RiskScore® Hereditary Cancer Test.

Information for Family Members

The following information for Family Members will appear as part of the MMT for a patient found to have a mutation in the DICER1 gene.

This patient's relatives are at risk for carrying the same mutation(s) and associated cancer risks as this patient. Cancer risks for females and males who have this/these mutation(s) are provided below.

Family members should talk to a healthcare provider about genetic testing. Close relatives such as parents, children, brothers and sisters have the highest chance of having the same mutation(s) as this patient. Other more distant relatives such as cousins, aunts, uncles, and grandparents also have a chance of carrying the same mutation(s). Testing of at-risk relatives can identify those family members with the same mutation(s) who may benefit from surveillance and early intervention.

Since risks and screening recommendations begin in infancy, genetic testing for children at risk of inheriting a DICER1 mutation is appropriate.

There are special considerations for pregnant individuals, including third trimester ultrasound screening of the lung and kidneys for fetuses at risk of inheriting a DICER1 mutation.4

References

  1. Schultz KAP, et al. DICER1 Tumor Predisposition. 2014 Apr 24 [Updated 2020 Apr 30]. In: Adam MP, et al., editors. GeneReviews® [Internet]. PMID: 24761742.
  2. Stewart DR, et al. Neoplasm Risk Among Individuals With a Pathogenic Germline Variant in DICER1. J Clin Oncol. 2019 Mar 10;37(8):668-676. PMID: 30715996.
  3. Khan NE, et al. Quantification of Thyroid Cancer and Multinodular Goiter Risk in the DICER1 Syndrome: A Family-Based Cohort Study. J Clin Endocrinol Metab. 2017 May 1;102(5):1614-1622. PMID: 28323992.
  4. Schultz KAP, et al. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex. Clin Cancer Res. 2025 Jan 17;31(2):234-244. PMID: 39540884.
  5. SEER*Explorer: An interactive website for SEER cancer statistics [Internet]. Surveillance Research Program, National Cancer Institute. [Cited 2025 Aug 12]. Available from https://seer.cancer.gov/explorer/.
Last Updated on 15-Sep-2025