Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

@article{Zhou2003GermlinePP,
  title={Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.},
  author={Xiao-ping Zhou and Kristin A. Waite and Robert T. Pilarski and Heather Hampel and Magali J. Fernandez and Cindy Bos and Majed J. Dasouki and Gerald L Feldman and Lois A Greenberg and Jennifer L. Ivanovich and Ellen T. Matloff and Annette E. Patterson and Mary Ella Pierpont and Donna M Russo and Najah Therese Nassif and Charis Eng},
  journal={American journal of human genetics},
  year={2003},
  volume={73 2},
  pages={404-11}
}
Germline intragenic mutations in PTEN are associated with 80% of patients with Cowden syndrome (CS) and 60% of patients with Bannayan-Riley-Ruvalcaba syndrome (BRRS). The underlying genetic causes remain to be determined in a considerable proportion of classic CS and BRRS without a polymerase chain reaction (PCR)-detectable PTEN mutation. We hypothesized that gross gene deletions and mutations in the PTEN promoter might alternatively account for a subset of apparently mutation-negative patients… CONTINUE READING

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PTEN Hamartoma Tumor Syndrome ( PHTS )

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Highly Influenced
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