TP53 R175H

虽然TP53中的功能丧失事件在癌症中很常见，但R175H变体似乎不仅导致肿瘤抑制功能的丧失，而且在小鼠模型中作为促进肿瘤发生的功能获得突变发挥作用。含有这种突变体的细胞株对阿霉素治疗的反应也比野生型的细胞株强。虽然个体TP53突变的预后影响受所研究队列的影响，但研究表明，与野生型TP53相比，R175H突变与更差的总生存率相关，但并没有R248W突变那么有害。这种变异在人口数据库中很少见（acmg编码：pm2；0.000003980总外显子af gnomad v2.1.1）。
While loss-of-function events in TP53 are very common in cancer, the R175H variant seems not only to result in loss of tumor-suppression, but also acts as a gain-of-function mutation that promotes tumorigenesis in mouse models. Cell lines harboring 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, it has been shown that the R175H mutation is correlated with worse overall survival than wild-type TP53, but is not as detrimental as the R248W variant. This variant is rare in population databases (ACMG code: PM2; 0.000003980 total exome AF gnomAD v2.1.1).