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Updated: Jun 14, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
[Mutations of tumor suppressor gemne TP53 in tobacco smoke-associated tumors]
Krzysztof Szyfter1, Katarzyna Kiwerska, Małgorzata Rydzanicz
1Zakład Mutagenezy Srodowiskowej, Instytut Genetyki Człowieka PAN, Poznań. szyfkris@man.poznan.pl
Abstract:
Tumour suppressor gene TP53 is a subject of frequent lesions and mutations in a majority of cancer types that is followed by its dysfunction in regulation of cell proliferation, apoptosin and DNA repair. Mutation profile reflects the presence of mutagen-vulnerable sites (including tobacco smoke carcinogens) in its structure. A number of mutations in tobacco smoke-associated cancers are higher than in other types. Particularly, G > T mutation is recognized a signature to benzo(a)pyrene exposure. Further, a mutation profile is dependent on cancer anatomic localization and histological type. There were put forward suggestions concerning estimation of cancer risk and disease prognosis basing of TP53 gene status and expression. The protocols of gene therapy involving TP53 gene are still not satisfactory.
Insights
The TP53 tumor suppressor gene frequently mutates in many cancers, impacting cell regulation. Its mutation profile, especially G > T, can indicate exposure to carcinogens like tobacco smoke.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Context:
- The TP53 gene is a critical tumor suppressor involved in cell cycle regulation, apoptosis, and DNA repair.
- TP53 is frequently altered in a wide range of human cancers.
- Specific mutation patterns in TP53 correlate with environmental exposures and cancer types.
Purpose:
- To analyze the mutation profile of the TP53 gene in various cancer types.
- To investigate the relationship between TP53 mutations, carcinogen exposure (e.g., tobacco smoke), and cancer characteristics.
- To explore the potential of TP53 status for cancer risk assessment and prognosis.
Summary:
- TP53 gene mutations are common across many cancer types, leading to loss of its tumor-suppressive functions.
- The specific mutation profile of TP53, including G > T mutations linked to benzo(a)pyrene, can serve as a biomarker for mutagen exposure, particularly from tobacco smoke.
- Mutation patterns vary based on cancer's location and histology, suggesting distinct mutagenic pathways.
Impact:
- Understanding TP53 mutation patterns can aid in estimating cancer risk and improving disease prognosis.
- Current gene therapy strategies targeting TP53 remain suboptimal, highlighting the need for further research and development.
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