PTEN R233*

PTEN R233*已被证明是一种功能缺失突变,PTEN缺失已成为乳腺癌大量研究的主题。PTEN缺失可能使细胞对PI3K mTOR抑制敏感。尽管仍有争议,但有数据支持PTEN丢失与预后不良相关,且预后无变化。
PTEN R233* has been shown to be a loss of function mutation, and PTEN loss has been the subject of considerable research in breast cancer. PTEN loss may sensitize cells to PI3K-mTOR inhibition. While still being debated, there is data to support that PTEN loss is both associated with poorer prognosis, and no change in prognosis.

别名

R233X,ARG233TER,RS121909219
Allele Registry ID:CA000549
ClinVar ID:7813

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
108971767289717672CT
Transcript
ENST00000371953.3

基因序列

NM_000314.6:c.697C>003eT
NP_000305.3:p.Arg233Ter
ENST00000371953.3:c.697C>003eT
NC_000010.10:g.89717672C>003eT