PTEN

This website provides information on patients with mutations in the PTEN gene, including clinical data, molecular data, management and research options.

The syndrome caused by pathogenic variations in the PTENgene is a multisystem disorder called PHTS for PTENHamartoma Tumor Syndrome, characterized by macrocephaly, hamartomatous overgrowth, mucocutaneous lesions, and an increased risk of benign and malignant tumors, particularly involving the thyroid, breast, endometrium, colon and kidney. Children may have developmental delay and/or autism spectrum disorder.

Not all individuals with a pathogenic variation in the PTENgene have these features.

This website was created to share and collect information about clinical features, management and research projects in order to improve knowledge and provide better care for patients with pathogenic variations in the PTENgene.

Cyril Mignot, MD, PhD, APHP Sorbonne Université, Département de Génétique, Paris, France, cyril.mignot@aphp.fr
Virginie Bubien, MD, PhD, Institut Bergonié, Cancer genetics unit, Bordeaux, France, v.bubien@bordeaux.unicancer.fr