title: Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype.
abstract: 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.
authors.affiliation: Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.
authors.forename: M
authors.initials: M
authors.lastname: Longy
authors.forename: V
authors.initials: V
authors.lastname: Coulon
authors.forename: B
authors.initials: B
authors.lastname: Duboué
authors.forename: A
authors.initials: A
authors.lastname: David
authors.forename: M
authors.initials: M
authors.lastname: Larrègue
authors.forename: C
authors.initials: C
authors.lastname: Eng
authors.forename: P
authors.initials: P
authors.lastname: Amati
authors.forename: J L
authors.initials: JL
authors.lastname: Kraimps
authors.forename: A
authors.initials: A
authors.lastname: Bottani
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: D
authors.initials: D
authors.lastname: Bonneau
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D005091:Exons; D005260:Female; D016147:Genes, Tumor Suppressor; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009386:Neoplastic Syndromes, Hereditary / Q000235:genetics*; D051059:PTEN Phosphohydrolase; D010375:Pedigree; D010641:Phenotype; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D010859:Pigmentation Disorders / Q000235:genetics; D013577:Syndrome; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human