A Genome-First Approach to Characterize DICER1 Pathogenic Variant Prevalence, Penetrance, and Phenotype

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...

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Detalhes bibliográficos
Publicado no:JAMA Netw Open
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Medical Association 2021
Assuntos:
Original Investigation
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7907958/
https://ncbi.nlm.nih.gov/pubmed/33630087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamanetworkopen.2021.0112
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