作者: Lyubov E. Salnikova
DOI: 10.1007/S12017-014-8290-1
关键词: Brain tumor 、 Pathology 、 Database 、 Missense mutation 、 Gene 、 Genetic heterogeneity 、 Germline mutation 、 Somatic cell 、 Age of onset 、 Biology 、 Neurology
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.