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PIK3CA
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Interpretation 312
Tier 2
PIK3CA
Variants
PIK3CA E542K
PIK3CA E545K
PIK3CA H1047R
PIK3CA codon(s) 542, 545, 1047 any
Primary Sites
Liver
Pancreas
Stomach
Tumor Types
Hepatocellular Carcinoma
Adenocarcinoma
Cholangiocarcinoma
Interpretation

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.

Citations
  1. Karakas B, et al. Mutation of the PIK3CA oncogene in human cancers. Br J Cancer 2006;94(4):455-9
  2. Lee JW, et al. PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene 2005;24(8):1477-80
  3. Velho S, et al. The prevalence of PIK3CA mutations in gastric and colon cancer. Eur J Cancer 2005;41(11):1649-54
  4. Jiao Y, et al. Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas. Nat Genet 2013;45(12):1470-3
  5. Witkiewicz AK, et al. Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets. Nat Commun 2015;6():6744
Last updated: 2016-10-05 22:29:42 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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