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:

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

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome;Ahmed;J Clin Endocrinol Metab,2000

2. Deletion of PTEN in a patient with Bannayan-Riley-Ruvalcaba syndrome suggests allelism with Cowden disease;Arch;Am J Med Genet,1997

3. Will the real Cowden syndrome please stand up: revised diagnostic criteria;Eng;J Med Genet,2000

4. Bannayan-Riley-Ruvalcaba syndrome;Gorlin;Am J Med Genet,1992

5. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome;Liaw;Nat Genet,1997

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