title: Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes.
abstract: The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features-eg, macrocephaly, lipomatosis, and vascular malformations-can be seen in all three syndromes. We examined PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified de-novo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.
authors.forename: X
authors.initials: X
authors.lastname: Zhou
authors.forename: H
authors.initials: H
authors.lastname: Hampel
authors.forename: H
authors.initials: H
authors.lastname: Thiele
authors.forename: R J
authors.initials: RJ
authors.lastname: Gorlin
authors.forename: R C
authors.initials: RC
authors.lastname: Hennekam
authors.forename: M
authors.initials: M
authors.lastname: Parisi
authors.forename: R M
authors.initials: RM
authors.lastname: Winter
authors.forename: C
authors.initials: C
authors.lastname: Eng
mesh_terms: D016147:Genes, Tumor Suppressor / Q000235:genetics*; D018095:Germ-Line Mutation; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D051059:PTEN Phosphohydrolase; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D016715:Proteus Syndrome / Q000235:genetics*; D025521:Tumor Suppressor Proteins
chemical_list: D025521:Tumor Suppressor Proteins; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human