PTEN: one gene, many syndromes.

@article{Eng2003PTENOG,
  title={PTEN: one gene, many syndromes.},
  author={Charis Eng},
  journal={Human mutation},
  year={2003},
  volume={22 3},
  pages={183-98}
}
PTEN, on 10q23.3, encodes a major lipid phosphatase which signals down the phosphoinositol-3-kinase/Akt pathway and effects G1 cell cycle arrest and apoptosis. Germline PTEN mutations have been found to occur in 80% of classic Cowden syndrome (CS), 60% of Bannayan-Riley-Ruvalcaba syndrome (BRRS), up to 20% of Proteus syndrome (PS), and approximately 50% of a Proteus-like syndrome (PSL). CS is a heritable multiple hamartoma syndrome with a high risk of breast, thyroid, and endometrial carcinomas… CONTINUE READING
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PTEN Hamartoma Tumor Syndrome ( PHTS )

  • Bannayan - Zonana Syndrome Bannayan - Riley - Ruvalcaba Syndrome Bannayan -, Ruvalcaba - Myhre - Smith Syndrome Riley - Smith Syndrome
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