PIK3CA E542K

PIK3CA E545K/E542K是乳腺癌中第二大复发性PIK3CA突变,是许多其他癌症类型的高度复发性突变。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患者预后较差。也有数据表明E545/542突变可能会对像西妥昔单抗这样的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 E545K/E542K are the second most recurrent PIK3CA mutations in breast cancer, and are 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 other PIK3CA variants or wild-type PIK3CA. There is also data to suggest that E545/542 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.

别名

GLU542LYS,RS121913273
Allele Registry ID:CA333572
ClinVar ID:31944

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
3178936082178936082GA
Transcript
ENST00000263967.3

基因序列

NM_006218.3:c.1624G>003eA
NP_006209.2:p.Glu542Lys
ENST00000263967.3:c.1624G>003eA
NC_000003.11:g.178936082G>003eA