You don't need to be signed in to read BMJ Blogs, but you can register here to receive updates about other BMJ products and services via our site.

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome

18 Jan, 13 | by hqqu

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 BergoniƩ 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, )

By submitting your comment you agree to adhere to these terms and conditions
You can follow any responses to this entry through the RSS 2.0 feed.
JMG blog homepage

JMG Contact

Research developments and evidence-based medical genetics. Visit site

Creative Comms logo

Latest from Journal of Medical Genetics

Latest from Journal of Medical Genetics