PIK3CA H1047R

PIK3CA H1047R是癌症特别是乳腺癌中最常见的单核苷酸变异之一。在PIK3CA突变型乳腺癌中,有一半以上含有这种突变。荟萃分析表明,携带这种突变的患者总体生存率可能更差,但从预后的角度来看,其他研究显示H1047R和其他PIK3CA突变体没有差异。尽管非常普遍,但针对这种特殊突变的靶向治疗仍处于早期临床试验阶段。
PIK3CA H1047R is one of the most recurrent single nucleotide variants in cancer, especially breast cancer. Of PIK3CA-mutant breast cancers, over half harbor this mutation. Meta-analyses have shown that patients harboring this mutation may have worse overall survival, but other studies have shown no difference between H1047R and other PIK3CA mutants from a prognostic standpoint. While very prevalent, targeted therapies for this particular mutation are still in early clinical trial phases.

别名

HIS1047ARG,RS121913279
Allele Registry ID:CA123326
ClinVar ID:13652

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178952085178952085AG
Transcript
ENST00000263967.3

基因序列

NM_006218.3:c.3140A>003eG
NP_006209.2:p.His1047Arg
ENST00000263967.3:c.3140A>003eG
NC_000003.11:g.178952085A>003eG