Increase In Mortality And Second Neoplasms In Chronic Lymphocytic Leukemia With Pro/Pro Genotype Of Tp53 Codon 72

Martin Cabero-Becerra,Jose Antonio Garcia Vela,Pedro Sanchez-Godoy,Angel Arias-Arias,Miguel Piris-Villaespesa, Nuria Pérez Sanz, Sara Nova-Gurumeta, Belen Fernández-Cuevas,Jose A. Garcia-Marco

BLOOD(2020)

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摘要
Chronic Lymphocytic Lymphoma (CLL) is a heterogeneous disease in which many important factors for its prognosis have been identified. The normal functioning of p53 is one of the most critical barriers against cancer; therefore, if it has a deletion and/or mutation, it is a robust biomarker for the therapeutic response in CLL. The possibility was raised that some germline single - nucleotide polymorphisms of TP53 in healthy populations may also affect p53 function. One of the most studied polymorphisms of the TP53 gene is codon 72 in exon 4, a CGC to CCC transition (R72P), due to its potential effect on cancer risk. As with many types of cancer, its association with a worse prognosis in CLL is unclear. We analyzed the relationship of the genotypes of the TP53 codon 72 polymorphism in a large cohort of patients with CLL, to demonstrate the association of codon 72 with the evolution of the disease.
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