TP53 R273C

虽然TP53的功能丧失事件在癌症中很常见,但r273变体似乎不仅导致肿瘤抑制功能的丧失,而且作为一种功能突变的获得,可以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突变的预后影响受所研究队列的影响,但有人认为,与野生型相比,R273突变与乳腺癌患者更差的总生存率相关。
While loss-of-function events in TP53 are very common in cancer, the R273 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, it has been suggested that the R273 mutants have been correlated with worse overall survival in breast cancer patients when compared to wild-type.

别名

ARG273CYS,RS121913343
Allele Registry ID:CA000432
ClinVar ID:43594

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
1775771217577121GA
Transcript
ENST00000269305.4

基因序列

NM_000546.5:c.817C>003eT
NP_000537.3:p.Arg273Cys
NC_000017.10:g.7577121G>003eA
ENST00000269305.4:c.817C>003eT