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By Dr Tushar Chauhan October 16, 2022
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The P53 gene often known as the TP53 gene is associated with many different somatic cancers.
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It encodes a tumor protein and is categorized as a tumor suppressor gene. The gene is located on chromosome 17 at 17p13.1 with a size of 20kB.
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The normal function of the P53 gene is to control cell division by regulating the process of cell proliferation.
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Other common names are antigen-NY-CO-13, P53_HUMAN, Phosphoprotein P53 and TRP53.
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Alterations of the P53 are majorly associated with breast cancer, Lung cancer, Melanoma, Ovarian cancer, Wilms Tumor and Bladder cancer.
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More than 40% of ovarian, colorectum, oesophagus, head and neck cancer and less than 10% of cervical cancer are caused by P53 gene mutations.
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A missense mutation is one of the most common P53 gene mutations with a prevalence of 73% followed by nonsense mutation (7.63%).
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Interestingly, 90% of common P53 gene mutations are located in introns or non-coding exons.
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P53 is a primary genetic marker for screening cancer. RT-PCR and gene sequencing techniques are used for screening the P53 gene.
Image credit: National cancer institute on Unplash