PIK3CA EXON 10 MUTATION

PIK3CA外显子10突变(例如E545K/E542K;如果只计算编码外显子,则通常称为外显子9突变)是乳腺癌中第二大复发性PIK3CA突变,并且在许多其他癌症类型中高度复发性突变。E545K,以及E545区域的其他突变,可能比其他PIK3CA变异体或野生型PIK3CA患者的预后差。也有数据表明,外显子10突变可能会对类似西妥昔单抗的EGFR抑制剂产生耐药性。虽然PIK3CA变种的靶向治疗非常普遍,但仍处于早期临床试验阶段。
PIK3CA Exon 10 Mutations (e.g. E545K/E542K; often referred to as Exon 9 mutations if counting only coding exons) are the second most recurrent PIK3CA mutations in breast cancer, and highly recurrent mutations in many other cancer types. E545K, and possibly the other mutations in the E545 region, may present patients with a poorer prognosis than patients with either patients with other PIK3CA variant or wild-type PIK3CA. There is also data to suggest that exon 10 mutations may confer resistance to EGFR inhibitors like cetuximab. While very prevalent, targeted therapies for variants in PIK3CA are still in early clinical trial phases.

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突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178935998178936122
Transcript
ENST00000263967.3

基因序列