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rs754818927(A;G)

From SNPedia
DICER1-related tumor susceptibility (predicted)
Is agenotype
ofrs754818927
GeneDICER1
Chromosome14
Position95,115,704
mentionedby
Magnitude6
ReputeBad
Geno Mag Summary
(A;G) 6 DICER1-related tumor susceptibility (predicted)
(G;G) 0 common in clinvar

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.