Article

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene <i>TP53</i>

2025-05-11

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 reduc...

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Literature Corpus work: 03e3aceb-6b40-5259-a63b-49077dcaa6df
DOI: 10.1101/2025.05.06.652567

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