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December 22, 2025Open Access

Population-based Characterization of PTEN Hamartoma Tumor Syndrome

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Authors

YNYing NiLYLamis YehiaGIGideon Idumah

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Overview

Population-based analysis reveals higher prevalence and undiagnosed PTEN hamartoma tumor syndrome, indicating genomic data enhances diagnosis.

Key Points

  • Characterizes PTEN hamartoma tumor syndrome in a population-based manner to better define its clinical spectrum.
  • Analyzed genomic data and electronic health records from 414,830 participants in the All of Us Research Program
  • Identified 55 individuals with pathogenic or likely pathogenic PTEN variants
  • Assessed cancer prevalence among PTEN variant carriers compared to other gene variant carriers
  • PTEN hamartoma tumor syndrome affects approximately 1 in 7500 individuals, higher than past estimates
  • PTEN variant carriers had significantly younger ages at first cancer diagnosis
  • Broadened phenotype includes sleep apnea and acanthosis nigricans, indicating systemic effects beyond overgrowth

Cite This Study

Ni et al. (2025) studied this question.

synapsesocial.com/papers/69488bc877063b71e748ce15https://doi.org/10.64898/2025.12.19.25342661
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