| DICER1-related tumor susceptibility (predicted) |
| Geno
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Mag
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Summary
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| (A;G)
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6
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DICER1-related tumor susceptibility (predicted)
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| (G;G)
|
0
|
common in clinvar
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This is a genotype with recommended actions if clinically confirmed. In brief:
- DICER1-related disorders are a familial tumor susceptibility syndrome that confers increased risk for pleuropulmonary blastoma (PPB) and at least four other tumor types.
- In order to detect pulmonary cysts or PPB, chest x-rays are recommended every 6 months from birth to through age 7 years and then annually from 8-12 years.
- Abdominal ultrasound is recommended for the detection in infancy or at the time of the first chest CT then every 6-12 months until at least 8 years of age.
- Beginning at ages 8-10 females should receive pelvic ultrasound performed in conjunction with abdominal ultrasound (every 6-12 months) until at least age 40 or as needed for signs and symptoms.
- Individuals should undergo thyroid ultrasound with assessment for regional adenopathy every 2 to 3 years starting at age 8 or as needed for signs and symptoms.
- An annual routine dilated ophthalmologic exam with visual acuity screening is recommended from age 3 to at least age 10.
The full ClinGen Actionability report about DICER1-related disorders can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
