DICER1 rs137852978: what the research says
This variant is linked to hereditary cancer-predisposing syndromes, including pleuropulmonary blastoma.
What each genotype means
Typical DICER1 genetic profile
This is the common, non-variant genotype for this position in the DICER1 gene. It is not associated with the increased tumor susceptibility linked to pathogenic variants in this gene.
This is the most common genotype observed in the general population.
Increased tumor susceptibility risk
This genotype indicates the presence of one copy of a variant associated with DICER1-related tumor predisposition syndrome. Individuals with this variant have an increased risk for developing specific tumors, such as pleuropulmonary blastoma, ovarian Sertoli-Leydig cell tumors, and thyroid nodules, though penetrance is reduced and many carriers remain unaffected. You should discuss these findings with a genetic counselor or medical professional to understand your personal risk and appropriate screening options.
This specific variant is rare in the general population.
High tumor susceptibility risk
This genotype indicates the presence of two copies of a variant associated with DICER1-related tumor predisposition syndrome. This condition is characterized by an increased risk for a spectrum of malignancies, including pleuropulmonary blastoma and other benign or malignant neoplasms. Please consult with a clinical geneticist or oncologist to discuss the implications of this result and potential clinical management.
This homozygous genotype is extremely rare in the general population.
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