Article

Missense but mis-spliced: germline <i>TP53</i> variant c.671A>C (p.E224A) and the path from uncertainty to pathogenicity

2025-08-01

Abstract excerpt

The TP53 gene encodes the well-known P53 tumor suppressor protein, which plays a crucial role in preventing cancer development. Germline TP53 variants cause Li-Fraumeni Syndrome (LFS), an autosomal dominant disorder associated with early-onset cancers, including breast cancer, brain tumors, leukemias, bone cancers, and soft tissue sarcomas. Functional studies in yeast and human cells demonstrated that TP53 variant...

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Literature Corpus work: f94afa1e-061e-56bd-96c2-0e14cc6148e3
DOI: 10.1101/2025.07.31.25332437

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Missense but mis-spliced: germline <i>TP53</i> variant c.671A>C (p.E224A) and the path from uncertainty to pathogenicityDOI 10.1101/2025.07.31.25332437Read

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