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Article

The prevalence of germline DICER1 pathogenic variation in cancer populations

22 Jan 2019

Abstract excerpt

BACKGROUND: The DICER1 syndrome is an autosomal dominant tumor-predisposition disorder associated with pleuropulmonary blastoma, a rare pediatric lung cancer. Somatic missense variation in "hotspot" codons in the RNaseIIIb domain (E1705, D1709, G1809, D1810, E1813) is observed in DICER1-associated tumors. Previously, we found the prevalence of germline pathogenic DICER1 variation in the general population is...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30672147
DOI: 10.1002/mgg3.555

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