Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan–Riley–Ruvalcaba syndrome clinical features

Cowden syndrome (CS) is an important hereditary cancer syndrome, is caused by mutations in the PTEN gene, which causes significantly increased risks for breast, thyroid, uterine and perhaps colon cancers.  Since 1996 the clinical diagnosis of CS has been based upon criteria established by a research consortium. These criteria, however, have not been rigorously examined in large cohorts. We reviewed the clinical features in a group of 172 patients with PTEN mutations and found significant differences from the reported frequencies of several features. We also found that the “Consortium” criteria missed many patients who were found to have PTEN mutations. Conversely, many patients with PTEN mutations did not meet the Consortium criteria. This argues for a re-evaluation of the criteria widely used to diagnose CS. (By Rob Pilarski, http://jmg.bmj.com/content/early/2011/06/08/jmg.2011.088807.abstract?papetoc )