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PIK3CA N1044K
GenePIK3CA
Variantmissense
Amino Acid ChangeN1044K
Transcript ID (GRCh37/hg19)ENST00000263967
Codon1044
Exon21
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 2
PIK3CA
Variants
PIK3CA N1044K
Primary Sites
Ampulla (Pancreaticobiliary Duct)
Tumor Types
Adenocarcinoma
Interpretation

The catalytic subunit of phosphatidylinositol-3-kinase (PI3K) is encoded by the PIK3CA gene. PIK3CA is among the most commonly mutated genes in cancer and aberrant activation of PI3K is a transforming event. PIK3CA mutations activate the PI3K-PTEN-AKT pathway which is downstream from both the EGFR and the RAS-RAF-MAPK pathways. The somatic mutations found thus far in PIK3CA are oncogenic, and the majority of them are clustered within exon 9 and 20 (helical and kinase domains), with three hotspots (E542K, E545K, and H1047R/L). PIK3CA mutations have been reported in various tumor types including up to 36% and 11% of hepatocellular carcinoma and gastric cancer, respectively. They are detected less frequently in cholangiocarcinoma (~6%) and pancreatic adenocarcinoma (~4%). The predictive and prognostic significance of PIK3CA mutations is unclear and needs further elucidation. Clinical trials targeting PI3K/Akt/mTor pathway inhibitors are available for patients with PIK3CA mutated tumors. The PIK3CA N1044K mutation is known to be oncogenic.

Last updated: 2019-01-22 18:41:27 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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