Article

Population-based Characterization of PTEN Hamartoma Tumor Syndrome

2026-01-29

Abstract excerpt

<title>Abstract</title> <p> PTEN hamartoma tumor syndrome (PHTS) is a cancer predisposition disorder caused by germline <italic>PTEN</italic> 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 o...

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Literature Corpus work: d4f8c815-12c8-5c80-9b37-be2dcd9abc30
DOI: 10.21203/rs.3.rs-8279719/v1

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