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Article

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53

21 Jul 2025

Abstract excerpt

Disease-causing variants with penetrance that is lower than the average expected for a given gene complicate classification, even when using gene-specific guidelines. For TP53, a gene associated with some of the highest cancer risks, even reduced penetrance disease-predisposition variants remain clinically actionable. We conducted a review of ClinVar submissions to identify TP53 variants flagged as having reduced...

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PMID: 40696762
DOI: 10.1016/j.xhgg.2025.100484

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