TP53 Variations in Human Cancers: New Lessons from the IARC TP53 Database and Genomics Data: Human Mutation
Abstract
TP53 gene mutations are one of the most frequent somatic events in cancer. The IARC TP53 Database (http://p53.iarc.fr) is a popular resource that compiles occurrence and phenotype data on TP53 germline and somatic variations linked to human cancer. The deluge of data coming from cancer genomic studies generates new data on TP53 variations and attracts a growing number of database users for the interpretation of TP53 variants. Here, we present the current contents and functionalities of the IARC TP53 Database and perform a systematic analysis of TP53 somatic mutation data extracted from this database and from genomic data repositories. This analysis showed that IARC has more TP53 somatic mutation data than genomic repositories (29,000 vs. 4,000). However, the more complete screening achieved by genomic studies highlighted some overlooked facts about TP53 mutations, such as the presence of a significant number of mutations occurring outside the DNA-binding domain in specific cancer types. We also provide an update on TP53 inherited variants including the ones that should be considered as neutral frequent variations. We thus provide an update of current knowledge on TP53 variations in human cancer as well as inform users on the efficient use of the IARC TP53 Database.
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TP53 was primarily mutated at known hotspots R175, R248, R273, and R282, or had nonsense or frameshift mutations.
“TP53 was primarily mutated at known hotspots R175, R248, R273, and R282 (refs. 59–61), or had nonsense or frameshift mutations”
From The origins and genetic interactions of KRAS mutations are allele- and tissue-specific (2021) · cites this paper as [60]
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- Authors
- Bouaoun, L., Sonkin, D., Ardin, M., Hollstein, M., Byrnes, G., Zavadil, J., & Olivier, M.
- Affiliations
- Centre international de recherche sur le cancer (FR)
- National Cancer Institute (US)
- University of Leeds (GB)
- Group of Molecular Mechanisms and Biomarkers; International Agency for Research on Cancer; Lyon Cedex 08 69372 France
- Corresponding author
- Olivier, Magali
- Venue
- Human Mutation
- Publisher
- Wiley
- Published
- 2016-07-08
- Volume
- 37
- Issue
- 9
- Pages
- 865-876
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2472035483
- Cited by
- 730
- References
- 35
- Citations by year
- 2026: 28 · 2025: 49 · 2024: 65 · 2023: 54 · 2022: 94 · 2021: 118 · 2020: 102 · 2019: 92 · 2018: 77 · 2017: 44 · 2016: 6
- FWCI
- 39.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Centre International de Recherche sur le Cancer
- Topics
- Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- TP53 mutation, somatic mutations, germline mutations, cancer genomics, variant interpretation
- MeSH terms
- Protein Domains, Humans, Mutation, Neoplasms, Phenotype, Software, Tumor Suppressor Protein p53, Genetic Predisposition to Disease, Genomics, Databases, Genetic, Data Curation
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