PT - JOURNAL ARTICLE AU - M Longy AU - V Coulon AU - B Duboué AU - A David AU - M Larrègue AU - C Eng AU - P Amati AU - J L Kraimps AU - A Bottani AU - D Lacombe AU - D Bonneau TI - Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype. AID - 10.1136/jmg.35.11.886 DP - 1998 Nov 01 TA - Journal of Medical Genetics PG - 886--889 VI - 35 IP - 11 4099 - http://jmg.bmj.com/content/35/11/886.short 4100 - http://jmg.bmj.com/content/35/11/886.full SO - J Med Genet1998 Nov 01; 35 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.