Article
A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype.
JAMA network open - 1 Feb 2021
Mirshahi Uyenlinh L, Kim Jung, Best Ana F, Chen Zongming E, Hu Ying, Haley Jeremy S, Golden Alicia, Stahl Richard, Manickam Kandamurugu, Carr Ann G, Harney Laura A, Field Amanda, Hatton Jessica, Schultz Kris Ann P, Bauer Andrew J, Hill D Ashley, Rosenberg Philip S, Murray Michael F, Carey David J, Stewart Douglas R
Abstract excerpt
Importance: Genetic disorders are historically defined through phenotype-first approaches. However, risk estimates derived from phenotype-linked ascertainment may overestimate severity and penetrance. Pathogenic variants in DICER1 are associated with increased risks of rare and common neoplasms and thyroid disease in adults and children. This study explored how effectively a genome-first approach could...
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