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Author

D. Shaiken

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Open access Oct 2026

A PATHOGENIC TP53 GENE C.154C>T (P.GLN52TER) NONSENSE VARIANT IN A WOMAN WITH EARLY-ONSET BREAST CANCER: A CASE REPORT

Relevance: Pathogenic constitutional variants of Tumor Protein 53 (TP53) underlie Li-Fraumeni syndrome and confer susceptibility to several malignancies that may arise at unusually young ages. Breast cancer diagnosed before 31 years is included in the modified Chompret criteria for TP53 testing, irrespective of family...

L. Skvortsova, D. Shaiken, K. Zhumagozhayev et al. · 0 citations

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