Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

M Longy; V Coulon; B Duboué; A David; M Larrègue; C Eng; P Amati; J L Kraimps; A Bottani; D Lacombe; D Bonneau

doi:10.1136/jmg.35.11.886

Mutations of PTEN in patients with Bannayan-Riley-Ruvalcaba phenotype

J Med Genet. 1998 Nov;35(11):886-9. doi: 10.1136/jmg.35.11.886.

Authors

M Longy¹, V Coulon, B Duboué, A David, M Larrègue, C Eng, P Amati, J L Kraimps, A Bottani, D Lacombe, D Bonneau

Affiliation

¹ Laboratoire d'Oncologie Moléculaire, Institut Bergonié, Bordeaux, France.

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Child
Exons
Female
Genes, Tumor Suppressor
Hamartoma Syndrome, Multiple / genetics
Humans
Male
Middle Aged
Mutation*
Neoplastic Syndromes, Hereditary / genetics*
PTEN Phosphohydrolase
Pedigree
Phenotype
Phosphoric Monoester Hydrolases / genetics*
Pigmentation Disorders / genetics
Syndrome
Tumor Suppressor Proteins*

Substances

Tumor Suppressor Proteins
Phosphoric Monoester Hydrolases
PTEN Phosphohydrolase
PTEN protein, human