Clinicopathologic Characteristics of Brain Tumors are Associated with the Presence and Patterns of TP53 Mutations: Evidence from the IARC TP53 Database

作者: Lyubov E. Salnikova

DOI: 10.1007/S12017-014-8290-1

关键词: Brain tumorPathologyDatabaseMissense mutationGeneGenetic heterogeneityGermline mutationSomatic cellAge of onsetBiologyNeurology

摘要: Biological diversity in the development and progression of brain tumors may be based on consequences nature TP53 mutation cancer sample. This study was designed to estimate possible impact presence spectrum mutations clinical variability using IARC Database (R17). Somatic germline patterns differ tumor carriers. The most frequent sporadic is R273C, which relatively rare grade 4 compared with lower-grade (p = 1.2 × 10−5, OR 0.43, 95 % CI 0.29–0.63). Mutations at all hot spots, DNA contact mutations, conserved regions gene are also more common 1–3 than tumors. frequencies missense hotspot codons gradually decrease three age groups studied, indicating role these early-onset somatic has been elucidated individual-participant meta-analysis that provided, for first time, strong evidence mean onset significantly lower patients mutated wild-type stratified by grade. associated mainly less malignant Malignant degeneration depend other genetic determinants.

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