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

Summary: 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 r...

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Bibliographic Details
Main Authors: Cristina Fortuno, Marcy E. Richardson, Tina Pesaran, Kelly McGoldrick, Paul A. James, Amanda B. Spurdle
Format: Article
Language:English
Published: Elsevier 2025-10-01
Series:HGG Advances
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Online Access:http://www.sciencedirect.com/science/article/pii/S2666247725000879
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