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PIK3CA
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Interpretation 180
Tier 2
PIK3CA
Variants
PIK3CA codon(s) 542, 545, 1047 any
Primary Sites
Bladder
Kidney
Ureter
Tumor Types
Urothelial Carcinoma
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). Activating mutations in PIK3CA are found are found in a wide variety of human cancers including 27% urothelial bladder cancers, with a higher prevalence in low grade tumors. Up to 13.6% of renal pelvic urothelial carcinomas also harbor activating somatic mutations in PIK3CA gene. The role of PIK3CA mutations as prognosticators of outcome or predictors of therapeutic response awaits further evaluation.

Citations
  1. Knowles, Margaret, et al. Molecular biology of bladder cancer: new insights into pathogenesis and clinical diversity. Nature Reviews Cancer 15.1 (2015): 25-41.
  2. Chaux, Alcides, et al. PIK3CA Mutational Analysis in Formalin-Fixed, Paraffin-Embedded Archival Tissues of Urothelial Carcinoma of Urinary Bladder. bioRxiv (2015): 020263.
  3. Netto, George J. Molecular biomarkers in urothelial carcinoma of the bladder: are we there yet?. Nature Reviews Urology 9.1 (2012): 41-51.
  4. Qian, Chao-Nan, et al. Activation of the PI3K/AKT pathway induces urothelial carcinoma of the renal pelvis: identification in human tumors and confirmation in animal models. Cancer research 69.21 (2009): 8256-8264.
Last updated: 2018-05-16 16:40:23 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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