Gene Variant Detail

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Gene PIK3CA
Variant M1043L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA M1043L lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). M1043L has not been biochemically characterized, but is predicted to confer a gain of function on the Pik3ca protein as demonstrated by increased transformation ability in two different cell lines (PMID: 29533785).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179234284A>C
cDNA c.3127A>C
Protein p.M1043L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179234284A>C c.3127A>C p.M1043L RefSeq GRCh38/hg38
NM_006218 chr3:g.179234284A>C c.3127A>C p.M1043L RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234284A>C c.3127A>C p.M1043L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA E545K PIK3CA M1043L breast cancer sensitive Everolimus Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA M1043L in cis demonstrated increased sensitivity to growth inhibition by Afinitor (everolimus) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E545K PIK3CA M1043L breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable ??In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA M1043L in cis demonstrated increased sensitivity to growth inhibition by Piqray (Alpelisib) treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932
PIK3CA E545K PIK3CA M1043L breast cancer sensitive GDC-0077 Preclinical - Cell culture Actionable In a preclinical study, breast epithelial cells expressing PIK3CA E545K and PIK3CA M1043L in cis demonstrated increased sensitivity to growth inhibition by GDC-0077 treatment compared to cells expressing individual PIK3CA mutations in culture (PMID: 31699932). 31699932