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Gene PIK3CA
Variant E545D
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA E545D is a hotspot mutation that lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E545D results in increased transformation ability in two different cell lines in culture (PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA E545D

PIK3CA mutant PIK3CA exon10 PIK3CA E545X PIK3CA E545D

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Transcript NM_006218.4
gDNA chr3:g.179218305G>C
cDNA c.1635G>C
Protein p.E545D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218 chr3:g.179218305G>T c.1635G>T p.E545D RefSeq hg38
XM_006713658.5 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
NM_006218 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
XM_011512894 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218305G>C c.1635G>C p.E545D RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E545D Her2-receptor negative breast cancer predicted - sensitive HS-10352 Case Reports/Case Series Actionable In a Phase I trial, HS-10352 treatment resulted in an objective response rate (ORR) of 27.8% (5/18, all partial responses), disease control rate (DCR) of 55.6%, and median progression-free survival (mPFS) of 3.9 mo in HR-positive, ERBB2 (HER2)-negative advanced breast cancer patients overall, and in the 6mg group led to an ORR of 66.7% and DCR of 83.3%, with an ORR of 75.0% (3/4) and DCR of 100% in patients with PIK3CA mutations (E542K, E545K, E545D, H1047L, H1047R) (PMID: 38037839; NCT04631835). 38037839