TP53 R248W

虽然TP53中的功能丧失事件在癌症中很常见，但r248变异体似乎不仅导致肿瘤抑制的丧失，而且作为一种功能获得突变，可促进小鼠模型中的肿瘤发生。与野生型突变株相比，这种突变株对阿霉素治疗反应更灵敏。虽然个体TP53突变的预后影响受正在研究的队列的影响，但已证明R248突变会导致更差的总生存率。
While loss-of-function events in TP53 are very common in cancer, the R248 variants seem not only to result in loss of tumor-suppression, but also act as a gain-of-function mutation that can promote tumorigenesis in mouse models. This mutant is also more responsive to treatment with doxorubicin than its wild-type counterparts. While the prognostic impact of individual TP53 mutations is influenced by the cohort being studied, R248 mutations have been shown to confer worse overall survival.