Interpretation 317
Tier 2|
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Variants
Interpretation
PTEN is an obligate haplo-insufficient tumor suppressor gene and is commonly mutated in a large number of cancers. It negatively regulates intracellular levels of Phosphatidylinositol (3,4,5)-trisphosphate (PIP3) in cells and functions as a tumor suppressor by negatively regulating AKT/mTOR signaling pathway. PTEN somatic point mutations are infrequent, but allelic loss or altered expression is seen in approximately 20% and 40% of the melanoma cases, respectively. Clinical trials using PI3K-beta inhibitor are available for patients with PTEN-deficient tumors.
Citations
- Keniry M, et al. The role of PTEN signaling perturbations in cancer and in targeted therapy. Oncogene 2008;27(41):5477-85
- Hill VK, et al. The genetics of melanoma: recent advances. Annu Rev Genomics Hum Genet 2013;14():257-79
- Chin L, et al. Malignant melanoma: genetics and therapeutics in the genomic era. Genes Dev 2006;20(16):2149-82
Last updated: 2016-11-04 00:38:40 UTC