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Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function

Lobo Glenn; Waite Kristin; Planchon Planchon; Todd Romigh; Nassif Najah; Eng Charis (Oxford Journals, 2009)

Germline and somatic PTEN mutations are found in Cowden syndrome (CS) and multiple sporadic malignancies, respectively. PTEN function appears to be modulated by subcellular compartmentalization, and mislocalization may ...
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

Waite Kristin; Pilarski Robert; Fernandez Magali; Zhou Xiao-Ping; Hampel Heather; Bos Cindy; Dasouki Majed; Feldman Gerald; Greenberg Lois; Ivanovich Jennifer; Matloff Ellen; Patterson Annette; Pierpont Mary; Russo Donna; Nassif Najah; Eng Charis (American Society of Human Genetics, 2003)

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 ...

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