MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE

We report three new mutations in PTEN, the gene responsible for Cowden disease in five patients with Bannayan-Riley-Ruvalcaba syndrome from three unrelated families. This finding confirms that Cowden disease, a dominant cancer predisposing syndrome, and Bannayan-Riley-Ruvalcaba s yndrome, which includes macrocephaly, multiple lipomas, intestinal ham artomatous polyps, vascular malformations, and pigmented macules of th e penis, are allelic disorders at the PTEN locus on chromosome 10q.