Interpretation 2269
Tier 2|
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Variants
Primary Sites
Tumor Types
Interpretation
PIK3CA mutations activate the PI3K-PTEN-AKT pathway which is downstream from both the EGFR and the RAS-RAF-MAPK pathways. PIK3CA mutations are present in ~5% of cutaneous melanomas. PIK3CA M1043I is a known oncogenic hotspot mutation. M1043I confers a gain of function on the protein as indicated by in increased activation of downstream signaling and and transformation in cell culture. Clinical trials targeting PI3K/Akt/mTor pathway inhibitors are available for patients with PIK3CA mutated tumors.
Citations
- Gymnopoulos M, et al. Rare cancer-specific mutations in PIK3CA show gain of function. Proc Natl Acad Sci U S A 2007;104(13):5569-74
- Ng PK, et al. Systematic Functional Annotation of Somatic Mutations in Cancer. Cancer Cell 2018;33(3):450-462.e10
- Karakas B, et al. Mutation of the PIK3CA oncogene in human cancers. Br J Cancer 2006;94(4):455-9
- Lee JW, et al. PIK3CA gene is frequently mutated in breast carcinomas and hepatocellular carcinomas. Oncogene 2005;24(8):1477-80
- Skin Cutaneous Melanoma (TCGA, PanCancer Atlas)
Last updated: 2018-10-11 19:03:22 UTC