PTEN hamartoma tumor syndrome (PHTS) encompasses several clinical syndromes with germline mutations in the PTEN tumor suppressor gene, including Cowden syndrome, characterized by an increased risk of breast and thyroid cancers. Because PHTS is rare, data regarding cancer risks are limited.
We recruited a significant number of PHTS patients with germline PTEN mutations from the Institut Bergonié genetic lab in order to better estimate cancer risks. This study showed a considerably high cumulative risk of different cancers for patients with PHTS, especially for women, and enables us to clarify and adapt recommendations for management of these patients. (By Dr. Virginie Bubien, http://jmg.bmj.com/content/early/2013/01/17/jmedgenet-2012-101339 )