Article
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.
American journal of human genetics - 1 Aug 2003
Zhou Xiao-Ping, Waite Kristin A, Pilarski Robert, Hampel Heather, Fernandez Magali J, Bos Cindy, Dasouki Majed, Feldman Gerald L, Greenberg Lois A, Ivanovich Jennifer, Matloff Ellen, Patterson Annette, Pierpont Mary Ella, Russo Donna, Nassif Najah T, Eng Charis
Abstract excerpt
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 cha...
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