RT Journal Article SR Electronic T1 Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 886 OP 889 DO 10.1136/jmg.35.11.886 VO 35 IS 11 A1 M Longy A1 V Coulon A1 B Duboué A1 A David A1 M Larrègue A1 C Eng A1 P Amati A1 J L Kraimps A1 A Bottani A1 D Lacombe A1 D Bonneau YR 1998 UL http://jmg.bmj.com/content/35/11/886.abstract AB 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.