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Landscape of TP53 Alterations in Chronic Lymphocytic Leukemia via Data Mining Mutation Databases
Abstract
Locus-specific databases are invaluable tools for both basic and clinical research. The extensive information they contain is gathered from the literature and manually curated by experts. Cancer genome sequencing projects generate an immense amount of data, which are stored directly in large repositories (cancer genome databases). The presence of a TP53 defect (17p deletion and/or TP53 mutations) is an independent prognostic factor in chronic lymphocytic leukemia (CLL) and TP53 status analysis has been adopted in routine clinical practice. For that reason, TP53 mutation databases have become essential for the validation of the plethora of TP53 variants detected in tumor samples. TP53 profiles in CLL are characterized by a great number of subclonal TP53 mutations with low variant allelic frequencies and the presence of multiple minor subclones harboring different TP53 mutations. In this review, we describe the various characteristics of the multiple levels of heterogeneity of TP53 variants in CLL through the analysis of TP53 mutation databases and the utility of their diagnosis in the clinic.
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“However, any clinical applications of these findings are, so far, restricted to just a few cancer types, such as chronic lymphocytic leukemia (CLL) or acute myeloid leukemia (AML) [83, 84].”
From The TP53 tumor suppressor gene: From molecular biology to clinical investigations (2025) · cites this paper as [84]
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Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
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A Specific Chemical Difference Between the Globins of Normal Human and Sickle-Cell Anæmia Hæmoglobin
INGRAM, V. M. (1956) · Nature · doi:10.1038/178792a0 · Cited by 896
Mutational processes shape the landscape of TP53 mutations in human cancer
Giacomelli, A. O., Yang, X., Lintner, R. E., McFarland, J. M., Duby, M., Kim, J., Howard, T. P., Takeda, D. Y., Ly, S. H., Kim, E., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0204-y · Cited by 556
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Cited by
The TP53 tumor suppressor gene: From molecular biology to clinical investigations
Baliakas, P., & Soussi, T. (2025) · Journal of Internal Medicine · doi:10.1111/joim.20106 · Cited by 50
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Metadata
- Authors
- Soussi, T., & Baliakas, P.
- Venue
- Frontiers in Oncology
- Publisher
- Frontiers Media SA
- Published
- 2022-02-16
- Volume
- 12
- ISSN
- 2234-943X
- Cited by
- 17
- References
- 7
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