Abstract: Germline mutations in PTEN on 10q23.3 cause 80% of classic Cowden syndrome (CS) and SO of Bannayan-Riley-Ruvalcaba syndrome (CS) as well as up to 20% of Proteus syndrome and up to 50 of unclassified Proteus-like syndromes. The major thrust of this grant was to identify and characterize PTEN's involvement in families and individuals with one ore more CS component tumors, of which prominently is breast cancer. During the funding period, the PT has found that approximately 5% of CS-like presentations have germline PTEN mutations, and the probability is increased by the presence of endometrial cancer. Because of this and related work by the PT, endometrial carcinoma has been added in as a true component cancer of CS and has been incorporated into the International Cowden Consotium Operational Diagnostic Criteria as well as the NCCN Guidelines. In contrast, site-specific breast cancer is not associated with germline PTEN mutations although 5% of apparently sporadic breast cancer presentations are associated with such mutations. Extending her work on breast and endometrial carcinomas, the PT has uncovered epigenetic mechanisms of inactivation of PTEN in progression of breast cancer and in the initiation of the earliest endometrial precancers.
| Limitations: |
 APPROVED FOR PUBLIC RELEASE |
| Description: |
Final rept. 1 Oct 1998-30 Sep 2001 |
| Pages: |
66 |
| Report Date: |
OCT 2001 |
| Contract Number: |
DAMD17-98-1-8058 |
| Report Number: |
A303893 |
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