%0 Journal Article %A M Longy %A V Coulon %A B Duboué %A A David %A M Larrègue %A C Eng %A P Amati %A J L Kraimps %A A Bottani %A D Lacombe %A D Bonneau %T Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. %D 1998 %R 10.1136/jmg.35.11.886 %J Journal of Medical Genetics %P 886-889 %V 35 %N 11 %X 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 syndrome, which includes macrocephaly, multiple lipomas, intestinal hamartomatous polyps, vascular malformations, and pigmented macules of the penis, are allelic disorders at the PTEN locus on chromosome 10q. %U https://jmg.bmj.com/content/jmedgenet/35/11/886.full.pdf