Detectible mosaic truncating PPM1D mutations, age and breast cancer risk

Mosaic protein truncating variants (PTVs) in the phosphatase, Mg2+/Mn2+dependent 1D (PPM1D) gene in blood-derived DNA have been associated with increased risk of breast cancer. We analyzed PPM1D PTVs in blood from 3817 breast cancer cases and 3058 controls by deep sequencing of a previously defined...

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Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Machiela, Mitchell J., Myers, Timothy A., Lyons, Christopher J., Koster, Roelof, Figg, William D., Colli, Leandro M., Jessop, Lea, Ahearn, Thomas U., Freedman, Neal D., García-Closas, Montserrat, Chanock, Stephen J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8211387/
https://ncbi.nlm.nih.gov/pubmed/30850729
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s10038-019-0589-1
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