August 19, 2025Scientific ReportsOpen Access

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer

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A novel in-frame germline TP53 variant disrupts p53 oligomerization, leading to early-onset cancers.
Functional tests revealed significant impairment of transcriptional activity due to the variant in human cells.
Analysis showed insensitivity to MDM2 inhibition, confirming the functional defect in p53 activity.
Research highlights the variant's role in promoting Li-Fraumeni syndrome with a high risk of various cancers.

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Implication

Germline TP53 variant impairs oligomerization and reduces transcriptional activity in human cells, indicating increased cancer risk in affected individuals.

Cite This Study

Vanikova et al. (2025) studied this question.

synapsesocial.com/papers/68af33efcf1dd9ea359e9760 https://doi.org/10.1038/s41598-025-14684-8

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Implication

Germline TP53 variant impairs oligomerization and reduces transcriptional activity in human cells, indicating increased cancer risk in affected individuals.

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer

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Discussion

Implication

Cite This Study

In-frame germline TP53 variant impairs p53 oligomerization and predisposes to cancer

Key Points

Discussion

Implication

Cite This Study

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