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Author Spotlight: Impact of Intergenic Interactions on Disease-Identifying Dark Biomarkers
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PTEN Promoter Variants Are Not Associated With Common Cancers: Implications for Multigene Panel Testing

Mary Helen Black1, Shuwei Li1, Tina Pesaran1

  • 1Mary Helen Black, Shuwei Li, Tina Pesaran, Holly LaDuca, Rachid Karam, Jacob Clifford, and Brandon Smith, Ambry Genetics, Aliso Viejo, CA; and Robert Pilarski, The Ohio State University, Columbus, OH.

JCO Precision Oncology
|February 17, 2022
PubMed
Summary

PTEN promoter variants do not increase cancer risk. PTEN mutations are linked to certain cancers, but promoter variants lack association, suggesting they shouldn't be included in multigene panel testing.

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