Article

Population-based Characterization of PTEN Hamartoma Tumor Syndrome

2025-12-20

Abstract excerpt

PTEN hamartoma tumor syndrome (PHTS) is a cancer predisposition disorder caused by germline PTEN variants, yet its full clinical spectrum remains poorly defined due to reliance on highly selected cohorts. Accordingly, PHTS is underrecognized and its prevalence underestimated. Leveraging genomic and electronic health record data from 414,830 participants in the All of Us (AoU) Research Program, we identified 55 in...

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Literature Corpus work: 18836931-671b-55af-9335-2b2b0a1c3d54
DOI: 10.64898/2025.12.19.25342661

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